I. Nishino

I. Nishino, M. Yoda, H. Suma, 2011, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

CONGENITAL MUSCULAR DYSTROPHIES P.198 TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain

F. Muntoni, I. Nishino, W. Liang, 2020, Neuromuscular Disorders.

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype

I. Nishino, W. Liang, Y. Jong, 2015, Skeletal Muscle.

Marked Respiratory Failure in an Ambulant Patient with Immune-mediated Necrotizing Myopathy and Anti-Kv1.4 and Anti-titin Antibodies

I. Nishino, Shigeaki Suzuki, S. Kuwabara, 2021, Internal medicine.

Diagnostic Significance of Membrane Attack Complex and Vitronectin in Childhood Dermatomyositis

R. Sakuta, I. Nonaka, I. Nishino, 2005, Journal of child neurology.

Cys669–Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association

I. Nishino, T. Sasaoka, S. Noguchi, 2007, Genes to cells : devoted to molecular & cellular mechanisms.

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant

I. Nishino, S. Saitoh, Kei Ohashi, 2022, Brain and Development.

[A case of dermatomyositis positive for anti-nuclear matrix protein 2 antibody without dermatologic symptoms].

N. Okiyama, I. Nishino, D. Hirozawa, 2021, Rinsho shinkeigaku = Clinical neurology.

Screening for late‐onset Pompe disease in undiagnosed myopathies

S. Sakoda, I. Nishino, Kimiko Inoue, 2017 .

Lipid Storage Myopathy

I. Nishino, W. Liang, 2011, Current neurology and neuroscience reports.

[A case of anti-Th/To antibody-positive systemic sclerosis with muscle symptoms and interstitial pneumonia].

I. Nishino, N. Hasebe, J. Sawada, 2021, Rinsho shinkeigaku = Clinical neurology.

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

D. Weeks, S. Dimauro, L. Salberg, 1998, American journal of human genetics.

High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation

I. Nishino, H. Numabe, Y. Kashiwagi, 2012, Pediatrics international : official journal of the Japan Pediatric Society.

Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: Two sibling cases

H. Togari, I. Nonaka, I. Nishino, 2010, Brain and Development.

Distal lipid storage myopathy due to PNPLA2 mutation

I. Nonaka, Y. Hayashi, I. Nishino, 2008, Neuromuscular Disorders.

Eponym: Barth syndrome.

I. Nishino, M. Yamada, T. Ariga, 2011, European journal of pediatrics.

Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review.

I. Nishino, Yuji Takahashi, T. Taminato, 2019, Journal of neuromuscular diseases.

Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair

Y. Hayashi, I. Nishino, Yuichi Goto, 2015, PLoS currents.

Determining neurodevelopmental manifestations in Duchenne muscular dystrophy using a battery of brief tests

Yoshihiko Saito, I. Nishino, M. Sasaki, 2022, Journal of the Neurological Sciences.

Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report.

I. Nishino, Yuji Takahashi, N. Minami, 2020, Journal of neuromuscular diseases.

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

I. Nishino, Y. Aoki, Yuji Takahashi, 2020, Journal of Human Genetics.

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation

N. Yonemoto, Y. Hayashi, I. Nishino, 2018, Journal of neuromuscular diseases.

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Y. Hayashi, I. Nishino, M. Okubo, 2017, Orphanet Journal of Rare Diseases.

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

Y. Hayashi, I. Nishino, S. Takeda, 2013, Orphanet Journal of Rare Diseases.

Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies

I. Nonaka, Y. Hayashi, I. Nishino, 2012, PloS one.

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium

I. Nishino, M. Yamada, T. Ariga, 2011, European Journal of Pediatrics.

Dysferlin mutation analysis in a group of Italian patients with limb‐girdle muscular dystrophy and Miyoshi myopathy

Y. Hayashi, I. Nishino, C. Angelini, 2004, European journal of neurology.

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

I. Nonaka, Y. Hayashi, I. Nishino, 2003, Journal of the Neurological Sciences.

Dysferlin Interacts with Affixin (β-Parvin) at the Sarcolemma

K. Kameyama, Y. Hayashi, I. Nishino, 2005 .

Dysferlin interacts with affixin (beta-parvin) at the sarcolemma.

K. Kameyama, Y. Hayashi, I. Nishino, 2005, Journal of neuropathology and experimental neurology.

An autopsied case of ADSSL1 myopathy

Yoshihiko Saito, I. Nishino, Tetsuya Takahashi, 2021, Neuromuscular Disorders.

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

M. Sonoo, Y. Hayashi, I. Nishino, 2012, Journal of the Neurological Sciences.

A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin

T. Kanda, I. Nishino, M. Okubo, 2021, Internal medicine.

Japanese case of Emery–Dreifuss muscular dystrophy with a novel LMNA missense mutation

I. Nishino, M. Nishizawa, S. Mitsuhashi, 2016 .

Reliability of antinuclear matrix protein 2 antibody assays in idiopathic inflammatory myopathies is dependent on target protein properties

T. Morio, N. Okiyama, M. Fujimoto, 2021, The Journal of dermatology.

A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.

I. Nishino, N. Omori, K. Abe, 2013, Internal medicine.

Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy

I. Nonaka, Y. Hayashi, I. Nishino, 2013, Neuromuscular Disorders.

Disorders of Lipid Metabolism

I. Nishino, W. Liang, 2013 .

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype

D. Birchall, K. Bushby, F. Muntoni, 2013, Neuromuscular Disorders.

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

Yoshihiko Saito, Y. Goto, I. Nishino, 2022, Journal of Translational Medicine.

Muscle magnetic resonance imaging abnormality in neuroleptic malignant syndrome: a case report

I. Nishino, R. Amano, Yuki Kakinuma, 2022, BMC Neurology.

Case of elderly‐onset multiple acyl‐CoA dehydrogenase deficiency with a novel ETFDH mutation shows progressive muscle weakness and rhabdomyolysis

Y. Hayashi, I. Nishino, M. Shoji, 2018 .

Riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency: A frequent condition in the southern Chinese population

I. Nishino, W. Liang, 2013 .

Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase

I. Nishino, W. Liang, H. Fujimura, 2012, Neuromuscular Disorders.

A new diagnostic test for VLCAD deficiency using immunohistochemistry

I. Nonaka, I. Nishino, Kunihiro Yoshida, 2004, Neurology.

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

Z. Molnár, N. Laing, I. Nishino, 2006, Neuromuscular Disorders.

Sudden cardiac death prevention in an Emery-Dreifuss muscular dystrophy patient.

I. Nishino, G. Izumi, H. Yamazawa, 2022, Pediatrics international : official journal of the Japan Pediatric Society.

Absence of sarcoplasmic myxovirus resistance protein A (MxA) expression in antisynthetase syndrome in a cohort of 194 cases

N. Okiyama, M. Fujimoto, I. Nishino, 2019, Neuropathology and Applied Neurobiology.

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.

I. Nishino, D. Shungu, Á. García-Cazorla, 2009, Human molecular genetics.

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.

I. Nishino, A. Spinazzola, M. Hirano, 2004, Clinical chemistry.

[A case of systemic lupus erythematosus predominantly presenting with myositis at onset].

I. Nishino, Shigeaki Suzuki, M. Ikawa, 2013, Rinshō shinkeigaku Clinical neurology.

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

A. Kakita, A. Fattal-Valevski, I. Nishino, 2016, American journal of human genetics.

[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene].

I. Nishino, K. Hara, H. Miyata, 2019, Rinsho shinkeigaku = Clinical neurology.

Distal myopathy in multi-minicore disease.

I. Nonaka, Y. Hayashi, I. Nishino, 2009, Internal medicine.

[Mitochondrial DNA depletion].

I. Nishino, I. Nonaka, 1998, Ryoikibetsu shokogun shirizu.

Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress

J. Kira, I. Nonaka, I. Nishino, 2003, Acta Neuropathologica.

[Selective muscular atrophy in a family with hereditary myopathy with early respiratory failure].

K. Hirata, I. Nishino, N. Kokubun, 2020, Rinsho shinkeigaku = Clinical neurology.

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

I. Nonaka, I. Nishino, M. Ogasawara, 2022, Acta Neuropathologica Communications.

Dietary phosphorus overload aggravates the phenotype of the dystrophin-deficient mdx mouse.

I. Nonaka, I. Nishino, R. Matsuda, 2014, The American journal of pathology.

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2

I. Nonaka, Y. Hayashi, I. Nishino, 2012, Clinical Neurology and Neurosurgery.

Clinical utility gene card for: Centronuclear and myotubular myopathies

A. Beggs, N. Romero, I. Nishino, 2012, European Journal of Human Genetics.

Myotubular/centronuclear myopathy and central core disease.

I. Nishino, G. Rácz, Chieko Fujimura-Kiyono, 2008, Neurology India.

A review of major causative genes in congenital myopathies

I. Nishino, M. Ogasawara, 2022, Journal of Human Genetics.

Beevor's sign: a potential clinical marker for GNE myopathy

I. Nishino, Hanns Lochmüller, A. Nalini, 2016, European journal of neurology.

Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow‐up muscle biopsy

I. Nishino, H. Sugie, Shinya Sato, 2012, Muscle & nerve.

Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes

Madoka Suzuki, Y. Inoue, Takayoshi Inoue, 2022, The Journal of general physiology.

Pathologic Features of Anti-Mi-2 Dermatomyositis

N. Okiyama, M. Fujimoto, I. Nishino, 2020, Neurology.

A 62‐Year‐Old Woman with A History of Muscle Pain and Skin Rash for 1 Month

I. Nishino, K. Hamanaka, A. Uruha, 2018, Brain pathology.

Skeletal Muscle Involvement in Antisynthetase Syndrome

T. Shiina, I. Nishino, Shigeaki Suzuki, 2017, JAMA neurology.

Transgenic Monkey Model of the Polyglutamine Diseases Recapitulating Progressive Neurological Symptoms

Kazuhiko Seki, Yuko Saito, Kazuhiro Yamamoto, 2017, eNeuro.

Familial reducing body myopathy

I. Nonaka, Y. Hayashi, I. Nishino, 2007, Brain and Development.

Nationwide patient registry for GNE myopathy in Japan

N. Yonemoto, Y. Hayashi, I. Nishino, 2014, Orphanet Journal of Rare Diseases.

Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: An imaging study using computed tomography

K. Hirata, Y. Hayashi, I. Nishino, 2012, Journal of the Neurological Sciences.

Clinical/scientific Notes Novel Fhl1 Mutations in Fatal and Be- Nign Reducing Body Myopathy

I. Nonaka, Y. Hayashi, I. Nishino, 2022 .

Case Report Familial reducing body myopathy

I. Nonaka, Y. Hayashi, I. Nishino, 2007 .

Thymidine Phosphorylase Deficiency Causes MNGIE: An Autosomal Recessive Mitochondrial Disorder

I. Nishino, A. Spinazzola, M. Hirano, 2004, Nucleosides, nucleotides & nucleic acids.

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

I. Nishino, J. A. Oliver, A. Andreu, 2002, Mitochondrion.

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.

I. Nishino, M. Hirano, Y. Nishigaki, 2001, Seminars in cell & developmental biology.

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

S. Dimauro, I. Nonaka, I. Nishino, 2000, Annals of neurology.

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy

I. Nishino, W. Liang, Y. Jong, 2020, Orphanet Journal of Rare Diseases.

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders

I. Nishino, S. Mitsuhashi, A. Nishikawa, 2016, Journal of Medical Genetics.

Inflammatory features in sporadic late‐onset nemaline myopathy are independent from monoclonal gammopathy

H. Goebel, I. Nishino, W. Stenzel, 2021, Brain pathology.

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

A. Takata, I. Nishino, N. Matsumoto, 2018, Genetics in Medicine.

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.

I. Nonaka, Y. Hayashi, I. Nishino, 2015, Human molecular genetics.

MNGIE: from nuclear DNA to mitochondrial DNA

I. Nishino, A. Spinazzola, M. Hirano, 2001, Neuromuscular Disorders.

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase*

I. Nishino, J. A. Oliver, A. Andreu, 2002, The Journal of Biological Chemistry.

Review article MNGIE: from nuclear DNA to mitochondrial DNA

I. Nishino, A. Spinazzola, M. Hirano, 2001 .

Reversible infantile respiratory chain deficiency: A clinical and molecular study

Tsutomu Suzuki, Y. Goto, I. Nonaka, 2010, Annals of neurology.

Mutation Spectrum of Primary Lipid Storage Myopathies

I. Nishino, A. Nalini, M. Faruq, 2022, Annals of Indian Academy of Neurology.

Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B

I. Nishino, A. Watanabe, A. Iida, 2018, Journal of the Neurological Sciences.

Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy

I. Nonaka, I. Nishino, S. Yoshida, 2019, Neuromuscular Disorders.

Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan

Y. Hayashi, I. Nishino, W. Liang, 2016, Journal of the Neurological Sciences.

Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.

I. Nishino, W. Liang, Y. Jong, 2015, Pediatrics and neonatology.

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan

I. Nonaka, I. Nishino, N. Minami, 1999, Journal of the Neurological Sciences.

Limb-girdle muscular dystrophy

I. Nishino, W. Liang, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

GNE myopathy: New name and new mutation nomenclature

W. Gahl, I. Nishino, M. Huizing, 2014, Neuromuscular Disorders.

Novel DYSF mutations in Thai patients with distal myopathy

Y. Hayashi, I. Nishino, T. Liewluck, 2009, Clinical Neurology and Neurosurgery.

Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

Y. Hayashi, I. Nishino, T. Liewluck, 2006, Muscle & nerve.

“Boule du biceps” in dysferlinopathy

I. Nishino, R. Hussein, R. el Sherif, 2019, Neurology.

Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.

I. Nishino, S. Okahashi, G. Ogawa, 2008, Internal medicine.

Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen

I. Nishino, T. Kumutpongpanich, K. Boonyapisit, 2018, Neuromuscular Disorders.

Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy.

I. Nishino, M. Murata, T. Okamoto, 2016, Rinsho shinkeigaku = Clinical neurology.

Dropped Head in Sporadic Late-onset Nemaline Myopathy

I. Nishino, S. Kuwabara, K. Shibuya, 2019, Internal medicine.

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

I. Nonaka, Y. Hayashi, I. Nishino, 2012, Neuromuscular Disorders.

A new congenital form of X-linked autophagic vacuolar myopathy

N. Murase, I. Nonaka, Y. Hayashi, 2005, Neurology.

Actin mutations are one cause of congenital fibre type disproportion

I. Nonaka, N. Laing, I. Nishino, 2004, Annals of neurology.

A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene

I. Nishino, K. Abe, T. Yamashita, 2017, Journal of the Neurological Sciences.

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation

I. Nonaka, Y. Hayashi, I. Nishino, 2008, Neurology.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation

I. Nishino, H. Tsuda, H. Osaka, 2022, Molecular genetics & genomic medicine.

Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation

I. Nishino, K. Abe, Kazufumi Nakamura, 2018, Journal of the Neurological Sciences.

[Two cases of nemaline myopathy presenting with hypertrophy of distal limbs with prominent asymmetry].

I. Nishino, Yuji Takahashi, M. Mori-Yoshimura, 2017, Rinsho shinkeigaku = Clinical neurology.

A case of congenital neuromuscular disease with uniform type 1 fibers

I. Nonaka, I. Nishino, M. Tsuji, 2006, Brain and Development.

Dermatomyositis: Muscle Pathology According to Antibody Subtypes

Yoshihiko Saito, N. Okiyama, I. Nishino, 2021, medRxiv.

Sarcolemmopathy: Muscular Dystrophies with Cell Membrane Defects

I. Nonaka, I. Nishino, E. Ozawa, 2001, Brain pathology.

Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: A 10-year retrospective critical review.

I. Nishino, J. Tanboon, Monawat Ngerncham, 2017, Journal of pediatric surgery.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

E. Malfatti, C. Ottenheijm, C. Bönnemann, 2020, American journal of human genetics.

Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy

Dang M. Tran, Shujiro Okuda, I. Nishino, 2022, bioRxiv.

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions

I. Nonaka, Y. Hayashi, I. Nishino, 2013, Neuromuscular Disorders.

Thigh muscle MRI findings in myopathy associated with anti‐mitochondrial antibody

N. Sawamoto, T. Mimori, I. Nishino, 2020, Muscle & nerve.

Myopathy associated with antibodies to signal recognition particle: disease progression and neurological outcome.

Y. Hayashi, I. Nishino, Shigeaki Suzuki, 2012, Archives of neurology.

Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients

Y. Hayashi, I. Nishino, Shigeaki Suzuki, 2015, Orphanet Journal of Rare Diseases.

A mild myopathy with anti-SRP plus anti-PL-12 antibodies successfully treated by oral steroid monotherapy

I. Nishino, K. Abe, T. Yamashita, 2018, Journal of the Neurological Sciences.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2015, The Journal of clinical investigation.

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations

I. Nonaka, Y. Hayashi, N. Laing, 2011, Neuromuscular Disorders.

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification

S. Robertson, I. Nonaka, I. Nishino, 2009, Neuromuscular Disorders.

Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome

Y. Goto, I. Nonaka, I. Nishino, 2016, Neurology: Genetics.

Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease

I. Nonaka, Y. Hayashi, I. Nishino, 2007, Neurology.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.

0261 Central core disease is due to RyR1 mutations in more than 90% of patients

I. Nonaka, Y. Hayashi, I. Nishino, 2005, Journal of the Neurological Sciences.

Non-collagenic etiologies of muscle weakness with joint deformities: about two paradigmatic case reports.

A. Mégarbané, I. Nishino, M. Thambyayah, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

P. Kaplan, S. Dimauro, E. Schon, 1999, Nature Genetics.

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy

Wei Zhang, Yun Yuan, Ichizo Nishino, 2019, Annals of clinical and translational neurology.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Shinichi Morishita, Yasuo Terao, Yuko Saito, 2019, Nature Genetics.

Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies

K. Campbell, K. Mathews, I. Nishino, 2002, Nature.

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

A. Takata, I. Nishino, N. Matsumoto, 2018, Genetics in Medicine.

GNE myopathy in Chinese population: hotspot and novel mutations

I. Nishino, S. Mitsuhashi, S. Luo, 2018, Journal of Human Genetics.

Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia

I. Nishino, H. Hamada, Toshimichi Yasuda, 2018, Journal of Anesthesia.

Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy

I. Nonaka, I. Nishino, T. Miike, 1999, Human mutation.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2022, Nature Communications.

Overexpression of Peroxisome Proliferator-Activated Receptor γ Co-Activator-1α Leads to Muscle Atrophy with Depletion of ATP

I. Nishino, Y. Kamei, S. Miura, 2006 .

[A case of Emery-Dreifuss muscular dystrophy with slight joint contracture].

Yoshihiko Saito, I. Nishino, I. Yabe, 2020, Rinsho shinkeigaku = Clinical neurology.

Limb-girdle muscular dystrophy due to emerin gene mutations.

K. Hirata, I. Nonaka, Y. Hayashi, 2007, Archives of neurology.

A mutation in a rare type of intron in a sodium‐channel gene results in aberrant splicing and causes myotonia

A. Krainer, S. Sakoda, I. Nishino, 2011, Human mutation.

Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy‐Like Phenotype

F. Puppo, Y. Hayashi, I. Nishino, 2015, Human mutation.

Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy

Eric T. Wang, E. Wang, M. Swanson, 2017, Genes & development.

Efficacy of Prednisolone in Generated Myotubes Derived From Fibroblasts of Duchenne Muscular Dystrophy Patients

I. Nishino, H. Hara, S. Takeda, 2018, Front. Pharmacol..

A neonatal form of glycogen storage disease type IV

I. Nonaka, I. Nishino, S. Ohta, 2003, Neurology.

LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies

K. Campbell, J. Dumanski, I. Nishino, 2004, Nature Medicine.

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

A. Laquérriere, I. Nishino, D. Dembélé, 2011, Nature Medicine.

Adiponectin and AdipoR1 regulate PGC-1α and mitochondria by Ca2+ and AMPK/SIRT1

Y. Hayashi, I. Nishino, M. Fukayama, 2010, Nature.

ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1

I. Nishino, Michinori Koebis, S. Ishiura, 2015, Genes to cells : devoted to molecular & cellular mechanisms.

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.

I. Nonaka, Y. Hayashi, I. Nishino, 2012, Developmental biology.

[Centronuclear myopathy].

I. Nishino, 2020, Ryoikibetsu shokogun shirizu.

Propofol-Induced Changes in Myoplasmic Calcium Concentrations in Cultured Human Skeletal Muscles from RYR1 Mutation Carriers

I. Nishino, O. Yuge,, M. Kawamoto, 2007, Anaesthesia and intensive care.

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

N. Miyasaka, I. Nishino, Yuji Takahashi, 2020, Orphanet Journal of Rare Diseases.

Statins and Myotoxic Effects Associated With Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Autoantibodies

I. Nishino, Shigeaki Suzuki, N. Suzuki, 2015, Medicine.

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

I. Nonaka, I. Nishino, A. Iida, 2019, Molecular genetics & genomic medicine.

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy

I. Nonaka, I. Nishino, N. Minami, 1998, Neuromuscular Disorders.

Dysferlinopathy associated with rigid spine syndrome

I. Nonaka, Y. Hayashi, I. Nishino, 2004, Neuropathology : official journal of the Japanese Society of Neuropathology.

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

I. Nonaka, Y. Hayashi, I. Nishino, 2007, Neurology.

Ullrich disease due to deficiency of collagen VI in the sarcolemma

Y Suzuki, I. Nonaka, Y. Hayashi, 2004, Neurology.

Inflammatory myopathy associated with PD-1 inhibitors.

T. Shiina, I. Nishino, Shigeaki Suzuki, 2019, Journal of autoimmunity.

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele

I. Nishino, T. Yonekawa, A. Nalini, 2016, Journal of Human Genetics.

Monoclonal gammopathy of renal significance (MGRS)-related AL amyloidosis complicated by amyloid myopathy: a case report

I. Nishino, R. Takahashi, H. Yokoi, 2021, BMC Nephrology.

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype–genotype correlation

I. Nonaka, I. Nishino, S. Noguchi, 2016, Neuromuscular Disorders.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

F. Muntoni, C. Brownstein, F. Alkuraya, 2013, American journal of human genetics.

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

L. Kunkel, J. Mendell, C. Bönnemann, 2012, neurogenetics.

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

I. Nishino, C. Wallgren‐Pettersson, J. Mandel, 2011, Acta Neuropathologica.

[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy].

Y. Hayashi, I. Nishino, N. Minami, 2008, Rinsho shinkeigaku = Clinical neurology.

Anti‐HMGCR myopathy following acute Epstein–Barr virus infection

I. Nishino, Takahiro Shimizu, M. Nagai, 2020, Muscle & nerve.

Myoclonus epilepsy associated with ragged‐red fibers: A G‐to‐A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families

I. Nonaka, I. Nishino, S. Horai, 1997, Muscle & nerve.

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

Y. Hayashi, I. Nishino, S. Noguchi, 2008, Muscle & nerve.

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients

N. Yonemoto, Y. Hayashi, I. Nishino, 2013, Journal of Neurology.

DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan

I. Nonaka, Y. Hayashi, I. Nishino, 2015, Neurology.

Clinical characteristics of dysphagic inclusion body myositis

I. Nishino, Toshiyuki Yamamoto, Yuji Takahashi, 2022, Neuromuscular Disorders.

More prominent fibrosis of the cricopharyngeal muscle in inclusion body myositis

Jun Shinmi, I. Nishino, Toshiyuki Yamamoto, 2021, Journal of the Neurological Sciences.

Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositis

Jun Shinmi, I. Nishino, Toshiyuki Yamamoto, 2020, Journal of Neurology.

A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement

I. Nonaka, I. Nishino, K. Sugie, 2003, Neurology.

Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

I. Nishino, R. Horvath, D. Nagabushana, 2021, Journal of Human Genetics.

Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

I. Nishino, R. Horvath, A. Nalini, 2021, Journal of Human Genetics.

GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing

S. Sakoda, I. Nishino, H. Mochizuki, 2017, Neuromuscular Disorders.

Causative variant profile of collagen VI-related dystrophy in Japan

Yoshihiko Saito, I. Nishino, T. Yonekawa, 2021, Orphanet Journal of Rare Diseases.

Mutation Profile of Collagen VI-Related Myopathy in Japan

Yoshihiko Saito, I. Nishino, T. Yonekawa, 2021 .

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

Y. Hayashi, I. Nishino, K. Nagao, 2020, Neurology.

A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4

I. Nishino, R. Matsuda, H. Sakurai, 2018, Human molecular genetics.

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

I. Nonaka, Y. Hayashi, I. Nishino, 2011, American journal of human genetics.

A new congenital muscular dystrophy with mitochondrial structural abnormalities

I. Nonaka, I. Nishino, S. Horai, 1998, Muscle & nerve.

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

Y. Hayashi, I. Nishino, K. Abe, 2013, Journal of Human Genetics.

Caveolin 3 suppresses phosphorylation-dependent activation of sarcolemmal nNOS.

Y. Sunada, I. Nishino, T. Murakami, 2022, Biochemical and biophysical research communications.

Two novel CAV3 gene mutations in Japanese families

I. Nonaka, Y. Hayashi, I. Nishino, 2004, Neuromuscular Disorders.

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

I. Nonaka, Y. Hayashi, I. Nishino, 2001, Human molecular genetics.

Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle.

I. Nishino, Y. Hayashi, N. Minami, 2003, Journal of biochemistry.

Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation.

I. Nishino, W. Liang, Chung-Sheng Lai, 2020, Annals of plastic surgery.

Oculopharyngeal muscular dystrophy associated with dementia.

I. Nonaka, I. Nishino, N. Araki, 2011, Internal medicine.

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

I. Nishino, T. Mizuno, N. Minami, 2021, BMC Neurology.

Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman

I. Nonaka, I. Nishino, K. Wong, 2005, Neuromuscular Disorders.

Aberrant Myokine Signaling in Congenital Myotonic Dystrophy.

Eric T. Wang, E. Wang, M. Swanson, 2017, Cell reports.

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

I. Nonaka, I. Nishino, S. Yamashita, 2008, Journal of Human Genetics.

Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles

Y. Hayashi, I. Nishino, M. Malicdan, 2014, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Distal myopathy with rimmed vacuoles in a case of opercular syndrome

I. Nonaka, I. Nishino, S. Yamaguchi, 2006, Brain and Development.

Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy

I. Nishino, Tomohiro Hayashi, Yuji Takahashi, 2021, Neuropathology and applied neurobiology.

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

R. Hanajima, Zhaoxia Wang, I. Nonaka, 2020, medRxiv.

Intra-myonuclear inclusions are diagnostic of oculopharyngeal muscular dystrophy

I. Nonaka, I. Nishino, M. Ogasawara, 2022, medRxiv.

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion

I. Nishino, N. Minami, M. Morimoto, 2023, Journal of neuromuscular diseases.

Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗)

I. Nishino, K. Abe, T. Yamashita, 2018, Journal of Clinical Neuroscience.

Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report

I. Nishino, S. Murayama, T. Kurashige, 2021, eNeurologicalSci.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

T. Matsukawa, S. Tsuji, Jun Shinmi, 2019, Nature Genetics.

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

I. Nonaka, I. Nishino, K. Chida, 2002, Neurology.

Isolated inflammatory myopathy with rimmed vacuoles presenting with dropped head

I. Nonaka, I. Nishino, S. Ueno, 2009, Neuromuscular Disorders.

Identification and characterization of PDGFRα+ mesenchymal progenitors in human skeletal muscle

M. Nakatani, A. Uezumi, I. Nishino, 2014, Cell Death and Disease.

Dominant mutations in ORAI 1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca 2 1 channels

I. Nonaka, Y. Hayashi, I. Nishino, 2014 .

Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: A case report

Y. Hayashi, I. Nishino, M. Fukuda, 2013, Neuromuscular Disorders.

HLA-DRB1 allele and autoantibody profiles in Japanese patients with inclusion body myositis

T. Shiina, I. Nishino, Shigeaki Suzuki, 2020, PloS one.

GNE genotype explains 20% of phenotypic variability in GNE myopathy

I. Nishino, Hanns Lochmüller, I. Wilson, 2019, Neurology: Genetics.

Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2.

Thomas M. Harris, K. Campbell, E. Olson, 2005, Genes & development.

Paraspinal amyotrophy in DNM-2-related centronuclear myopathy

I. Nishino, H. Nakajima, S. Arawaka, 2019, Journal of the Neurological Sciences.

Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy

I. Nishino, Y. Takeshima, H. Shimomura, 2019, Human Genome Variation.

Tonsillectomy Improved Therapeutic Response in Anti-SRP Myopathy With Chronic Tonsillitis

I. Nishino, Shigeaki Suzuki, F. Tanaka, 2020, Frontiers in Immunology.

The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan

I. Nishino, R. Kaji, H. Nodera, 2019, Orphanet Journal of Rare Diseases.

An autopsy case of peliosis hepatis with X-linked myotubular myopathy.

A. Kakita, I. Nishino, H. Shimizu, 2019, Legal medicine.

The effects of dantrolene in the presence or absence of ryanodine receptor type 1 variants in individuals predisposed to malignant hyperthermia

I. Nishino, Toshimichi Yasuda, N. Saeki, 2022, Anaesthesia and intensive care.

TMEM43 mutations in emery‐dreifuss muscular dystrophy‐related myopathy

I. Nonaka, Y. Hayashi, I. Nishino, 2011, Annals of neurology.

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Munhyang Lee, Y. Hayashi, I. Nishino, 2003, Human molecular genetics.

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy

N. Kenmochi, S. Tsuji, T. Uechi, 2016, Journal of Human Genetics.

Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions

I. Nishino, M. Sasaki, N. Minami, 2017, Neuromuscular Disorders.

Chronic sarcoid myopathy mimicking sporadic inclusion body myositis

I. Nishino, Toshiyuki Yamamoto, Yuji Takahashi, 2019, Clinical Neurology and Neurosurgery.

Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis

D. Papanicolaou, V. S. Williams, L. Tankó, 2020, Neurology.

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan

I. Higuchi, I. Nishino, S. Nakano, 2017, Journal of the Neurological Sciences.

cDNA microarray analysis of individual Duchenne muscular dystrophy patients.

Tatsushi Toda, Satoru Noguchi, Ichizo Nishino, 2003, Human molecular genetics.

Negative result in search for human alpha‐dystrobrevin deficiency

I. Nonaka, I. Nishino, H. Ishikawa, 2003, Muscle & nerve.

RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

M. Hagiwara, I. Nishino, T. Awaya, 2022, Human Genetics.

Availability of DMD mRNA Transcripts Analysis in a patient with Dystrophinopathy having a Nonsense Mutation

A. Nakamura, Y. Hayashi, I. Nishino, 2013 .

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

I. Nishino, M. Matsuo, M. Okubo, 2020, Human Genetics.

N. Shimizu, S. Minoshima, Y. Hayashi, 2003, Neurology.

Deficiency of α-Dystroglycan in Muscle–Eye–Brain Disease

I. Nonaka, I. Nishino, H. Yoshikawa, 2002 .

Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors

Yoshihiko Saito, I. Nishino, H. Fujimura, 2021, Neuromuscular Disorders.

Localization of a gene for myoclonus‐dystonia to chromosome 7q21‐q31

D. Jennings, S. Bressman, I. Nishino, 1999, Annals of neurology.

A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy

I. Nishino, Y. Aoki, Yuji Takahashi, 2021, Neuromuscular Disorders.

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I

I. Nonaka, Y. Hayashi, I. Nishino, 2007, Brain and Development.

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

Susan C. Brown, F. Muntoni, N. Romero, 2005, Neuromuscular Disorders.

A case of delayed diagnosis of Becker muscular dystrophy due to underlying developmental disorders

I. Nishino, Yuji Takahashi, N. Sato, 2021, Brain and Development.

Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

I. Nishino, M. Hirano, Y. Nishigaki, 2006, Internal medicine.

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study

I. Nishino, Yuji Takahashi, K. Mizuno, 2022, BMJ Neurology Open.

Advances in understanding of the natural history, mechanism, extra‐muscular manifestations and treatment of GNE myopathy

I. Nishino, S. Noguchi, Madoka Mori, 2022, Neurology and Clinical Neuroscience.

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/ hereditary inclusion body myopathy, a sugar-deficient myopathy: a review

I. Nishino, M. Malicdan, S. Noguchi, 2010, Therapeutic advances in neurological disorders.

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Satoru Noguchi, Ichizo Nishino, Ikuya Nonaka, 2007, Human molecular genetics.

Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.

I. Nonaka, I. Nishino, M. Ogasawara, 2020, Journal of neuropathology and experimental neurology.

Myositis with sarcoplasmic inclusions in Nakajo–Nishimura syndrome: a genetic inflammatory myopathy

I. Nishino, R. Takahashi, Hidefumi Ito, 2020, Neuropathology and applied neurobiology.

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

E. Kerty, I. Nishino, M. Nakagawa, 2019, Neuromuscular Disorders.

A JAPANESE ADULT FORM OF CPT II DEFICIENCY ASSOCIATED WITH A HOMOZYGOUS F383Y MUTATION

I. Nishino, H. Kido, T. Fukuda, 2007, Neurology.

A neural correlate of response bias in monkey caudate nucleus

K. Campbell, K. Mathews, I. Nishino, 2022 .

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

I. Nishino, Hanns Lochmüller, H. Mansbach, 2017, Neuromuscular Disorders.

Pembrolizumab-induced Ocular Myasthenia Gravis with Anti-titin Antibody and Necrotizing Myopathy

I. Nishino, Shigeaki Suzuki, H. Yaguchi, 2019, Internal medicine.

Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment

Y. Hayashi, I. Nishino, Chao-Ching Huang, 2013, Neuromuscular Disorders.

Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients

I. Nishino, H. Morino, H. Maruyama, 2022, Journal of Human Genetics.

Chronic Myopathy Associated With Anti–Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy

M. Sonoo, Y. Hayashi, I. Nishino, 2016, Journal of clinical neuromuscular disease.

Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation

I. Nishino, Yuji Takahashi, S. Noguchi, 2019, Brain and Development.

G.P.12 Molecular defects in FAT1 are associated to facioscapulohumeral dystrophy (FSHD)

F. Puppo, I. Nishino, M. Bartoli, 2014, Neuromuscular Disorders.

Zmynd17 controls muscle mitochondrial quality and whole‐body metabolism

I. Nishino, S. Miura, R. Fujita, 2018, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.

S. Wakana, I. Nishino, M. Taniguchi, 2009, The American journal of pathology.

Unifying Nomenclature for the Isoforms of the Lysosomal Membrane Protein LAMP‐2

J. Lippincott-Schwartz, I. Nishino, P. Saftig, 2005, Traffic.

Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques

I. Nishino, K. Mamchaoui, M. Nakamori, 2020, The Journal of cell biology.

Phospholipid synthetic defect and mitophagy in muscle disease

I. Nishino, S. Mitsuhashi, 2011, Autophagy.

A new familial distal myopathy in Japan with predominant upper extremities

I. Nishino, K. Abe, Kou Tadokoro, 2018, Journal of the Neurological Sciences.

Isolated inclusion body myopathy caused by a multisystem proteinopathy–linked hnRNPA1 mutation

K. Nakayama, I. Nishino, R. Funayama, 2015, Neurology: Genetics.

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report

I. Nishino, Y. Maegaki, A. Ohtake, 2015, Brain and Development.

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report

I. Nishino, H. Nakajima, S. Kamei, 2020, BMC Neurology.

Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor.

T. Taketani, I. Nishino, Y. Okuno, 2021, The Journal of allergy and clinical immunology.

A 67‐Year‐Old Man with Leg Weakness and Hypertrophic Cardiomyopathy

I. Nishino, S. Ikeda, Yuji Takahashi, 2020, Brain pathology.

[Case of amyloidosis with amyloid deposition detected only in skeletal muscles].

I. Nishino, T. Toda, K. Sekiguchi, 2012, Rinsho shinkeigaku = Clinical neurology.

Inflammatory Myopathy Associated with Anti-mitochondrial Antibody-negative Primary Biliary Cholangitis Diagnosed by a Liver Biopsy

I. Nishino, Y. Kakuta, Takuya Sasaki, 2022, Internal medicine.

Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle

I. Nonaka, I. Nishino, P. Saftig, 2008, Neuromuscular Disorders.

Muscle pathology of antisynthetase syndrome according to antibody subtypes

N. Okiyama, M. Fujimoto, I. Nishino, 2022, medRxiv.

Anti-nuclear matrix protein 2 antibody-positive inflammatory myopathies represent extensive myositis without dermatomyositis-specific rash.

T. Morio, N. Okiyama, M. Fujimoto, 2021, Rheumatology.

Association of Dermatomyositis Sine Dermatitis and With Anti-Nuclear Matrix Protein 2 Autoantibodies.

N. Okiyama, M. Fujimoto, I. Nishino, 2020, JAMA neurology.

Author update: Sarcoplasmic MxA expression: A valuable marker of dermatomyositis

I. Nishino, Shigeaki Suzuki, A. Uruha, 2017, Neurology.

Underlying diseases in sporadic presentation of high creatine kinase levels in girls.

I. Nishino, Y. Takeshima, H. Shimomura, 2021, Clinica chimica acta; international journal of clinical chemistry.

Hypoparathyroidism and insulin‐dependent diabetes mellitus in a patient with Kearns–Sayre syndrome harbouring a mitochondrial DNA deletion

I. Nonaka, I. Nishino, N. Ohsawa, 1996, Clinical endocrinology.

Mitochondrial encephalomyopathy with elderly onset of stroke-like episodes.

Y. Goto, I. Nonaka, I. Nishino, 1996, Internal medicine.

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase &bgr;

I. Nishino, S. Mitsuhashi, 2013, Current opinion in neurology.

Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke‐like episodes/Leigh syndrome overlap patient with a novel m.3482A>G mutation in MT‐ND1

Y. Hayashi, I. Nishino, M. Yamada, 2020, Neuropathology : official journal of the Japanese Society of Neuropathology.

NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy

Y. Goto, I. Nishino, C. Sakai, 2018, Clinical genetics.

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes

I. Nishino, S. Morishita, M. Yamaguchi, 2022, Journal of Neurology.

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene

S. Dimauro, I. Nishino, C. Bruno, 1999, Neurology.

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

I. Nonaka, Y. Hayashi, I. Nishino, 2010, Acta Neuropathologica.

Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes

E. Nagata, I. Nishino, A. Mizuma, 2017, Internal medicine.

A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy.

Y. Goto, I. Nonaka, I. Nishino, 1996, Biochemical and biophysical research communications.

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.

I. Nishino, Y. Makita, T. Kaname, 2022, Journal of clinical neuromuscular disease.

[New congenital muscular dystrophy due to CHKB mutations].

I. Nishino, 2013, Rinsho shinkeigaku = Clinical neurology.

Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest

I. Nonaka, I. Nishino, G. Yamanaka, 2011, Pediatrics international : official journal of the Japan Pediatric Society.

Characteristic findings of skeletal muscle MRI in caveolinopathies

Y. Hayashi, I. Nishino, Takatoshi Sato, 2018, Neuromuscular Disorders.

A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient

S. Tsuji, I. Nishino, H. Ishiura, 2017, Internal medicine.

Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood

I. Nonaka, Y. Hayashi, I. Nishino, 2013, Neuromuscular Disorders.

Anti-nuclear matrix protein 2 antibody-positive idiopathic inflammatory myopathies represent extensive myositis without dermatomyositis-specific rash

N. Okiyama, M. Fujimoto, I. Nishino, 2021, medRxiv.

MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNALeu(UUR) gene

Y. Goto, I. Nishino, M. Sasaki, 2014, Brain and Development.

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

T. Tsunoda, T. Morio, H. Shiraishi, 2017, Scientific Reports.

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy

Y. Hayashi, I. Nishino, K. Goto, 2006, Neuromuscular Disorders.

Reply to Lemmers et al.

Y. Hayashi, I. Nishino, K. Goto, 2006, Neuromuscular Disorders.

The muscle findings in a pediatric patient with live attenuated oral polio vaccine-related flaccid monoplegia.

I. Nishino, S. Uchiyama, T. Izumi, 2014, Vaccine.

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47

I. Nishino, H. Hamada, Toshimichi Yasuda, 2009, Journal of Anesthesia.

Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1

I. Nishino, Michinori Koebis, Y. Kino, 2011, Genes to cells : devoted to molecular & cellular mechanisms.

Phase I clinical trial results of aceneuramic acid for GNE myopathy in Japan

I. Nishino, Takuhiro Yamaguchi, N. Suzuki, 2018, Translational Medicine Communications.

GNE Myopathy (Hereditary Inclusion‐Body Myopathy/Distal Myopathy with Rimmed Vacuoles): Clinical Features and Epidemiology

I. Nonaka, I. Nishino, Z. Argov, 2011 .

[Molecular pathomechanism of distal myopathy with rimmed vacuoles].

N. Kasahata, I. Nonaka, Y. Hayashi, 2005, Rinsho shinkeigaku = Clinical neurology.

A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)

I. Nishino, M. Makino, Y. Tsuji, 2023, Cureus.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

E. Malfatti, N. Romero, I. Nishino, 2019, Acta Neuropathologica Communications.

Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency

I. Shiojima, I. Nishino, H. Tsukaguchi, 2018, Scientific Reports.

Yoshihiko Saito, I. Nishino, M. Yamasaki, 2020 .

RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

J. Rilstone, C. Ackerley, I. Nishino, 2009, Cell.

VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification (Retracted article. See vol. 142, pg. 984, 2010)

J. Rilstone, C. Ackerley, I. Nishino, 2009 .

Autophagy in a Mouse Model of Distal Myopathy with Rimmed Vacuoles or Hereditary Inclusion Body Myopathy

I. Nishino, M. Malicdan, S. Noguchi, 2007, Autophagy.

Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?

I. Nishino, M. Malicdan, S. Noguchi, 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

D. Papanicolaou, V. S. Williams, P. Bergh, 2019, The Lancet Neurology.

Correlation of muscle ultrasound with clinical and pathological findings in idiopathic inflammatory myopathies

J. Albayda, I. Nishino, Y. Izumi, 2023, Muscle & nerve.

Treatment experience of Taiwanese patients with anti‐3‐hydroxy‐3‐methylglutaryl‐coenzyme A reductase myopathy

I. Nishino, Hsiu-Fen Lin, W. Liang, 2020, The Kaohsiung journal of medical sciences.

Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble

T. Shiina, I. Nishino, Shigeaki Suzuki, 2019, Neuromuscular Disorders.

Immune-mediated necrotizing myopathy in a multi-ethnic malaysian cohort

I. Nishino, Shigeaki Suzuki, N. Shahrizaila, 2021 .

Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies

Y. Hayashi, I. Nishino, T. Yonekawa, 2014, Journal of Neuroimmunology.

A case of anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody-positive paraneoplastic necrotizing myopathy associated with advanced gastric cancer that responded to intravenous immunoglobulin therapy.

I. Nishino, M. Ikawa, T. Hamano, 2017, Rinsho shinkeigaku = Clinical neurology.

Childhood-onset anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) necrotizing myopathy needs to be distinguished from muscular dystrophy: A case study.

I. Nishino, Shigeaki Suzuki, Yuji Takahashi, 2017, Rinsho shinkeigaku = Clinical neurology.

HLA-DRB1 alleles in immune-mediated necrotizing myopathy

T. Shiina, I. Nishino, Shigeaki Suzuki, 2016, Neurology.

Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure

I. Nishino, K. Imaizumi, M. Katsuno, 2021, Internal medicine.

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features

Yoshihiko Saito, T. Kanda, I. Nonaka, 2020, Neurology.

Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state

K. Yokochi, I. Nishino, T. Kibe, 2015, Brain and Development.

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

Yoshihiko Saito, I. Nishino, A. Iida, 2020, eNeurologicalSci.

Kyphoscoliosis and easy fatigability in a 14‐year‐old boy

Y. Hayashi, I. Nishino, J. Tanboon, 2015, Neuropathology : official journal of the Japanese Society of Neuropathology.

Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event

K. Yokochi, I. Nishino, N. Koyama, 2015, Brain and Development.

Anti-mitochondrial antibody-associated myositis with eosinophilia and dropped head

I. Nishino, N. Kohara, T. Ueda, 2018, eNeurologicalSci.

X-linked myotubular myopathy

J. Dowling, I. Nishino, M. Lawlor, 2021, Neuromuscular Disorders.

Overlap syndrome with antibodies against multiple transfer-RNA components presenting antisynthetase syndrome

I. Nishino, Y. Kirino, S. Suzuki, 2023, Neuromuscular Disorders.

A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

C. Caltagirone, I. Nishino, T. Kawarai, 2019, Journal of the Neurological Sciences.

Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

Sara W. Bird, Erinna F. Lee, Michael D. Kim, 2016 .

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Y. Goto, I. Nishino, A. Iida, 2019, Human Genome Variation.

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)

I. Nonaka, Y. Hayashi, I. Nishino, 2008, Neuromuscular Disorders.

Muscle biochemical and pathological diagnosis in Pompe disease

I. Nishino, T. Fukuda, S. Noguchi, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy

I. Nishino, K. Iwasawa, T. Okuyama, 2018, Brain and Development.

Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

I. Nonaka, I. Nishino, N. Takahashi, 2005, The American journal of the medical sciences.

Association of immune‐mediated necrotizing myopathy with HLA polymorphisms

T. Shiina, I. Nishino, Shigeaki Suzuki, 2022, HLA.

Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants.

I. Nishino, E. Nanba, Y. Maegaki, 2020, Human genome variation.

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

Kazuki Z. Yamamoto, Y. Okada, M. Sekijima, 2022, Scientific reports.

GNE myopathy in Chinese population: hotspot and novel mutations

I. Nishino, S. Mitsuhashi, S. Luo, 2018, Journal of Human Genetics.

A unique case of limb‐girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene

I. Nishino, E. Matsubara, M. Shoji, 2007, European Journal of Neurology.

[A Japanese family with POMT2-related limb girdle muscular dystrophy].

Yoshihiko Saito, I. Nishino, T. Fukudome, 2021, Rinsho shinkeigaku = Clinical neurology.

A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI

K. Campbell, I. Nonaka, Y. Hayashi, 2009, Brain & development (Tokyo. 1979).

P.441 Tubular aggregate myopathy with dystrophic features

I. Nishino, E. Koshimizu, S. Noguchi, 2017, Neuromuscular Disorders.

Severe lactic acidosis and neonatal death in Pearson syndrome

Y. Goto, I. Nishino, S. Horai, 1997, Journal of Inherited Metabolic Disease.

Plasma IP-10 level distinguishes inflammatory myopathy

I. Nishino, T. Yamamura, S. Noguchi, 2015, Neurology.

Mis-regulation of the alternative splicing of BIN 1 is associated with T-tubule alterations and muscle weakness in myotonic dystrophy

Ylva, A. Laquérriere, I. Nishino, 2011 .

[Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report].

I. Nishino, M. Ogasawara, N. Fujita, 2021, Rinsho shinkeigaku = Clinical neurology.

First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene

Y. Hayashi, I. Nishino, T. Taniwaki, 2015 .

Editorial :Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). DOI: 10.1080/15548627.2015.1100356;WOS:000373595400001; 2-s2.0-85013763791&;PMID: 26799652

Lee, Duchen, Izzo, 2016 .

The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

I. Nonaka, I. Nishino, S. Horai, 1996, Muscle & nerve.

A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties

I. Nonaka, I. Nishino, K. Kaida, 2017, Neuromuscular Disorders.

Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations

Yoshihiko Saito, I. Nishino, T. Fukuda, 2020, Internal medicine.

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review

I. Nishino, Yuji Takahashi, T. Fukuda, 2022, Neuromuscular Disorders.

Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency

Yoshihiko Saito, Y. Sunada, I. Nishino, 2021, Internal medicine.

Interferon beta-responsive inclusion body myositis in a hepatitis C virus carrier.

J. Satoh, I. Nishino, K. Yamaguchi, 2004, Neurology.

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy

I. Nonaka, Y. Hayashi, I. Nishino, 2018, Human Genome Variation.

Early onset distal muscular dystrophy with normal dysferlin expression

R. Sakuta, I. Nonaka, I. Nishino, 2005, Brain and Development.

Dysferlin Interacts with Afﬁxin ( b -Parvin) at the Sarcolemma

K. Kameyama, Y. Hayashi, I. Nishino, 2005 .

Noteworthy Cardiovascular Involvement with Sporadic Late-onset Nemaline Myopathy

K. Kario, I. Nishino, H. Shimazaki, 2021, Internal medicine.

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

Y. Hayashi, I. Nishino, S. Noguchi, 2012, Neuromuscular Disorders.

Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression

I. Nishino, N. Omori, K. Abe, 2012, Case Reports in Neurology.

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNATrp

Y. Goto, I. Nishino, H. Komaki, 2015, Acta neuropathologica communications.

[A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A].

Y. Goto, I. Nishino, T. Toda, 2015, Rinsho shinkeigaku = Clinical neurology.

Unique Lewy pathology in myotonic dystrophy type 1

I. Nishino, M. Hoshino, S. Murayama, 2022, Neuropathology : official journal of the Japanese Society of Neuropathology.

Perifascicular necrosis in anti-synthetase syndrome beyond anti-Jo-1.

I. Nishino, Shigeaki Suzuki, N. Suzuki, 2016, Brain : a journal of neurology.

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome

I. Nishino, T. Shimohata, Yusuke Manabe, 2019, Documenta Ophthalmologica.

Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy.

I. Nishino, S. Yamashita, M. Ueda, 2023, Neuropathology (Kyoto. 1993).

Secondary cardiac involvement in anti-SRP-antibody-positive myopathy: an 87-year-old woman with heart failure symptoms as the first clinical presentation

I. Nishino, T. Uchihara, S. Toru, 2020, BMC Neurology.

Case of dynamin 2 mutation‐related sporadic centronuclear myopathy with peripheral neuropathy

I. Nishino, Shingo Azuma, C. Tatsumi, 2015 .

A young female case of asymptomatic immune-mediated necrotizing myopathy: a potential diagnostic option of antibody testing for rhabdomyolysis

I. Nishino, E. Katsuyama, T. Yamashita, 2022, Neuromuscular Disorders.

IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy

Y. Goto, I. Nonaka, Y. Hayashi, 2017, Neurology: Genetics.

Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches.

I. Nishino, L. Rodino‐Klapac, S. Noguchi, 2021, Journal of neuromuscular diseases.

Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.

I. Nishino, Michinori Koebis, S. Ishiura, 2011, Biochemical and biophysical research communications.

Transgenic monkey model of the polyglutamine diseases recapitulating progressive neurological symptoms and polyglutamine protein inclusions

K. Seki, H. Ishibashi, N. Ichinohe, 2017, Journal of the Neurological Sciences.

Surface electromyogram and muscle ultrasonography for detection of muscle fasciculations in pediatric peripheral neuropathy

I. Nishino, M. Oguri, Y. Maegaki, 2017, Brain and Development.

Affixin activates Rac1 via βPIX in C2C12 myoblast

K. Kameyama, Y. Hayashi, I. Nishino, 2008, FEBS letters.

Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN

I. Nishino, M. Ogasawara, K. Imai, 2021, Brain and Development.

Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy

I. Nishino, A. Saraste, H. Kalimo, 2017, Neuromuscular Disorders.

Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation

I. Nishino, Y. Terao, M. Fukusaki, 2008, Journal of Anesthesia.

Identiﬁcation and characterization of PDGFR a þ mesenchymal progenitors in human skeletal muscle

M. Nakatani, A. Uezumi, I. Nishino, 2022 .

High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation

I. Nishino, H. Numabe, Y. Kashiwagi, 2012, Pediatrics International.

Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.

G. Sobue, I. Nishino, M. Seto, 1995, Human molecular genetics.

Branchpoints as potential targets of exon-skipping therapies for genetic disorders

I. Nishino, R. Kurosawa, T. Awaya, 2023, Molecular therapy. Nucleic acids.

Csk‐homologous kinase interacts with SHPS‐1 and enhances neurite outgrowth of PC12 cells

I. Nishino, E. Futai, S. Ishiura, 2008, Journal of neurochemistry.

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy

Yoshihiko Saito, I. Nishino, S. Ralston, 2023, Neurology: Genetics.

Identification of a novel mutation and genotype–phenotype relationship in MEGF10 myopathy

Yoshihiko Saito, I. Nishino, Y. Nagai, 2022, Neuromuscular Disorders.

Tulobuterol is a potential therapeutic drug in congenital myasthenic syndrome.

Yoshihiko Saito, I. Nishino, A. Ishiyama, 2022, Pediatrics international : official journal of the Japan Pediatric Society.

Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy

I. Nishino, K. Takei, T. Takeda, 2021, Human mutation.

Sjögren syndrome combined with myositis which is pathologically compatible with inclusion body myositis

I. Nishino, Y. Shiio, Tatsuya Sato, 2020 .

Creutzfeldt‐Jakob disease cluster in an Australian rural city

I. Nishino, Kyoko Takano, S. Saitoh, 2002, Annals of neurology.

FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients

Yoshihiko Saito, I. Nishino, M. Matsuo, 2021, Journal of Clinical Neuroscience.

FSHD-like patients without 4q35 deletion

Y. Hayashi, I. Nishino, K. Goto, 2004, Journal of the Neurological Sciences.

Identification of variants in the 4 q 35 gene FAT 1 in patients with a Facioscapulohumeral dystrophy ( FSHD )-like phenotype

F. Puppo, Y. Hayashi, I. Nishino, 2015 .

Detection of DNA fragments encompassing the deletion junction of mitochondrial genome.

Y. Goto, I. Nonaka, I. Nishino, 1996, Biochemical and Biophysical Research Communications - BBRC.

Increase in number of sporadic inclusion body myositis (sIBM) in Japan

I. Nonaka, Y. Hayashi, I. Nishino, 2012, Journal of Neurology.

Editorial: Inflammatory muscle diseases: an update

I. Nishino, W. Stenzel, M. Needham, 2023, Frontiers in neurology.

Expression of MBNL and CELF mRNA transcripts in muscles with myotonic dystrophy

I. Nishino, Y. Kino, S. Ishiura, 2007, Neuromuscular Disorders.

[Danon disease].

I. Nishino, 2001, Ryoikibetsu shokogun shirizu.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Yoshihiko Saito, K. Claeys, E. Malfatti, 2023, Journal of neurology.

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

I. Nishino, S. Matsuura, Kayoko Saito, 2023, American journal of human genetics.

C.P.4.06 A novel myotilin mutation in exon 9: The first LGMD1A identified in Japan

I. Nonaka, Y. Hayashi, I. Nishino, 2007, Neuromuscular Disorders.

Mitochondrial abnormalities in selenium‐deficient myopathy

I. Nonaka, I. Nishino, Y. Yokoyama, 1998, Muscle & nerve.

Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35

I. Nishino, Takuhito Nagai, O. Uemura, 2017, Internal medicine.

A case of type 1 facioscapulohumeral muscular dystrophy (FSHD) with restrictive ventilatory defect and congestive heart failure

I. Nishino, K. Abe, N. Morimoto, 2020, eNeurologicalSci.

A deep convolutional neural network-based algorithm for muscle biopsy diagnosis outperforms human specialists

M. Ogasawara, Y.-L. Chen, Y. Kabeya, 2020, medRxiv.

Sick sinus syndrome concomitant with myopathy associated with anti-mitochondrial antibodies: a case report

I. Nishino, T. Yoshikawa, S. Yoshizawa, 2022, European heart journal. Case reports.

Hyperglycemic Crisis in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS).

Y. Goto, I. Nishino, M. Sasaki, 2020, Pediatric neurology.

Anti-mitochondrial antibody–mediated myopathy with cardiac involvement: reply

I. Nishino, S. Yoshizawa, Y. Oya, 2023, European heart journal. Case reports.

Deep convolutional neural network-based algorithm for muscle biopsy diagnosis

Yoshihiko Saito, F. Matsuda, I. Nishino, 2021, Laboratory Investigation.

Proteolysis of β-dystroglycan in muscular diseases

I. Nishino, K. Matsumura, I. Higuchi, 2005, Neuromuscular Disorders.

Guidelines for the use and interpretation of assays for monitoring autophagy

Robert Clarke, Hong Jiang, Hiroyuki Ishida, 2012 .

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

Y. Hayashi, I. Nishino, S. Noguchi, 2008, Muscle & nerve.

Reduced Dnmt3a increases Gdf5 expression with suppressed satellite cell differentiation and impaired skeletal muscle regeneration

N. Fujii, I. Nishino, S. Machida, 2017, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

ミトコンドリアDNA 8729 G>A変異をみとめたneurogenic muscle weakness, ataxia, and retinitis pigmentosa（NARP）の1例

Y. Goto, I. Nishino, T. Toda, 2015 .

Physician-Level Aggregated Classifier for Genetic Muscle Disorders

Hiroki Nakano, Michio Inoue, Yusuke Takeuchi, 2019, 2019 IEEE 16th International Symposium on Biomedical Imaging (ISBI 2019).

Dropped Head Syndrome Caused by Immune-mediated Necrotizing Myopathy

I. Nishino, T. Ueno, M. Tomiyama, 2019, Internal medicine.

A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient

S. Tsuji, I. Nishino, H. Ishiura, 2017, Internal medicine.

Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of Lamp-2-deficient mice.

I. Nishino, K. Wada, Y. Uchiyama, 2015, American Journal of Pathology.

Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-Term Extension of RESILIENT.

D. Papanicolaou, V. S. Williams, L. Tankó, 2021, Neurology.

Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

I. Nonaka, I. Nishino, N. Takahashi, 2008, International journal of cardiology.

Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy

I. Nishino, K. Takei, T. Takeda, 2021, bioRxiv.

Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

J. Rilstone, C. Ackerley, I. Nishino, 2010, Cell.

Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: An imaging study using computed tomography

K. Hirata, Y. Hayashi, I. Nishino, 2012, Journal of the Neurological Sciences.

Perifascicular necrosis in anti-synthetase syndrome beyond anti-Jo-1.

I. Nishino, Shigeaki Suzuki, N. Suzuki, 2016, Brain : a journal of neurology.

Myopathy associated with antibodies to signal recognition particle: disease progression and neurological outcome.

Y. Hayashi, I. Nishino, Shigeaki Suzuki, 2012, Archives of neurology.

Emery‐Dreifuss muscular dystrophy‐related myopathy with TMEM43 mutations

M. Sonoo, I. Nishino, Yuji Takahashi, 2018, Muscle & nerve.

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands

A. Mammen, F. Mastaglia, E. Aronica, 2015, Neuromuscular Disorders.

Magnetic resonance imaging findings of the lower limb muscles in anti-mitochondrial M2 antibody-positive myositis

I. Nishino, H. Kimura, M. Hasegawa, 2023, Neuromuscular Disorders.

Anti-mitochondrial antibody-associated myositis with eosinophilia and dropped head

I. Nishino, N. Kohara, T. Ueda, 2018, eNeurologicalSci.

[Anti-mitochondrial M2 antibody-positive myositis preceded by heart failure and cardiac conduction disturbance. A case report].

I. Nishino, N. Kokubun, Keisuke Suzuki, 2022, Rinsho shinkeigaku = Clinical neurology.

Enzyme‐linked immunosorbent assays for diagnosis of immune‐mediated necrotizing myopathy

I. Nishino, Shigeaki Suzuki, N. Suzuki, 2016 .