H. Komaki

发表

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

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

Seizure imitators monitored using video-EEG in children with intellectual disabilities

M. Sasaki, E. Nakagawa, K. Sugai, 2018, Epilepsy & Behavior.

Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania

N. Yonemoto, I. Nonaka, I. Nishino, 2020, Brain and Development.

Renal dysfunction can occur in advanced‐stage Duchenne muscular dystrophy

M. Eguchi, A. Ishiyama, H. Komaki, 2019, Muscle & nerve.

A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy

Y. Goto, I. Nonaka, A. Ikota, 2003, Journal of Human Genetics.

A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis

K. Bushby, K. Wada, Hanns Lochmüller, 2016, Neuromuscular Disorders.

Unusual exocrine complication of pancreatitis in mitochondrial disease

I. Nishino, Yu‐ichi Goto, M. Sasaki, 2013, Brain and Development.

Psychosis and progressing dementia: Presenting features of a mitochondriopathy

Y. Goto, I. Nonaka, I. Nishino, 2000, Neurology.

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms

Y. Goto, M. Ōsawa, M. Sasaki, 2009, Brain and Development.

Inflammatory changes in infantile-onset LMNA-associated myopathy

I. Nonaka, Y. Hayashi, I. Nishino, 2011, Neuromuscular Disorders.

The nSMase2/Smpd3 gene modulates the severity of muscular dystrophy and the emotional stress response in mdx mice

Y. Inoue, Takayoshi Inoue, S. Takeda, 2020, BMC Medicine.

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia

Y. Hayashi, I. Nishino, W. Liang, 2012, Neuromuscular Disorders.

Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches

S. Takeda, Y. Aoki, T. Yokota, 2019, Journal of personalized medicine.

Recent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: from discovery to clinical trials.

S. Takeda, Y. Aoki, H. Komaki, 2016, American journal of translational research.

Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B

I. Nonaka, Y. Hayashi, I. Nishino, 2009, Neuromuscular Disorders.

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline high serum creatine kinase.

B. Banwell, L. Medne, C. Bönnemann, 2021, Brain : a journal of neurology.

Cochlear damage due to germanium-induced mitochondrial dysfunction in guinea pigs

Y. Goto, T. Yamasoba, Mitsuya Suzuki, 2006, Neuroscience Letters.

Utility of Cystatin C for Estimating Glomerular Filtration Rate in Patients With Muscular Dystrophy.

I. Komuro, T. Komori, H. Morita, 2016, International heart journal.

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

J. J. Padilla, C. Palermo, M. Pane, 2018, Neuromuscular Disorders.

Improvement in Behavioral Problems in Children with Intractable Epilepsy Using the Child Behavior Checklist after Surgical Intervention

A. Takahashi, Y. Inoue, M. Kaga, 2011 .

Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia

T. Maehara, H. Shimizu, K. Sugai, 2001, Brain and Development.

Surgical Treatment of a Case of Early Infantile Epileptic Encephalopathy with Suppression‐Bursts Associated with Focal Cortical Dysplasia

T. Maehara, H. Shimizu, M. Sasaki, 1999, Epilepsia.

Postnatal evolution of cortical malformation in the “non-affected” hemisphere of hemimegalencephaly

M. Sasaki, T. Otsuki, E. Nakagawa, 2010, Brain and Development.

A Nationwide Survey on Danon Disease in Japan

I. Nonaka, I. Nishino, H. Tsukaguchi, 2018, International journal of molecular sciences.

Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome.

E. Engle, Y. Nakata, Toshiyuki Yamamoto, 2014, Pediatric neurology.

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

H. Tada, S. Saitoh, J. Tohyama, 2019, Orphanet Journal of Rare Diseases.

Decreased resting energy expenditure in patients with Duchenne muscular dystrophy

H. Mochizuki, M. Sasaki, E. Nakagawa, 2012, Brain and Development.

Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride

M. Hoshino, Y. Aoki, A. Ishiyama, 2019, Scientific Reports.

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

I. Nonaka, Y. Hayashi, I. Nishino, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

M. Tarnopolsky, Y. Chien, J. Charrow, 2021, The Lancet Neurology.

[Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey].

Y. Sunada, M. Takahashi, T. Matsuura, 2020, Rinsho shinkeigaku = Clinical neurology.

Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome

M. Kubota, M. Sasaki, K. Kurosawa, 2011, Brain and Development.

International retrospective natural history study of LMNA-related congenital muscular dystrophy

E. Mercuri, F. Muntoni, T. Pierson, 2021, Brain communications.

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

I. Nonaka, I. Nishino, M. Sasaki, 2018, Human Genome Variation.

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

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

A nationwide survey on Marinesco-Sjögren syndrome in Japan

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

Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

I. Nonaka, I. Nishino, M. Sasaki, 2010, Brain and Development.

Hemiconvulsion–hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy

H. Kurahashi, M. Sasaki, E. Nakagawa, 2009, Epilepsia.

MECP2 Duplication Syndrome in Male Patients with Severe Mental Retardation and Intractable Epilepsy

J. Inazawa, Y. Goto, J. Tohyama, 2010 .

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

Y. Goto, I. Nonaka, I. Nishino, 2009, Mitochondrion.

COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency

Y. Okada, Y. Goto, I. Nonaka, 2019, Annals of neurology.

Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies

I. Nishino, W. Liang, Y. Jong, 2016, Rheumatology.

A pediatric patient with myopathy associated with antibodies to a signal recognition particle

Y. Hayashi, I. Nishino, M. Sasaki, 2012, Brain and Development.

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2015, Journal of Human Genetics.

NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy

S. Takeda, T. Nagata, H. Komaki, 2018, Molecular therapy. Nucleic acids.

Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy

S. Takeda, Y. Aoki, M. Sasaki, 2018, Science Translational Medicine.

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

Y. Goto, I. Nishino, H. Hatakeyama, 2015, Acta Neuropathologica Communications.

Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers

M. Sasaki, H. Tachimori, E. Nakagawa, 2018, Brain and Development.

A phase I study of TAS‐205 in patients with Duchenne muscular dystrophy

M. Sasaki, A. Ishiyama, E. Takeshita, 2018, Annals of clinical and translational neurology.

The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan

H. Yoshinaga, M. Kubota, Y. Maegaki, 2019, Brain and Development.

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation

N. Matsumoto, N. Miyake, M. Sasaki, 2015, American journal of medical genetics. Part A.

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.

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.

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions

Y. Goto, I. Nonaka, H. Komaki, 2002, Annals of neurology.

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation

Y. Goto, M. Sasaki, E. Nakagawa, 2011, Journal of the Neurological Sciences.

Three Cases of Myoclonic Encephalopathy in Non-progressive Disorders

M. Sasaki, E. Nakagawa, K. Sugai, 2017 .

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.

Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study

Y. Takeshima, E. Takeshita, H. Komaki, 2020, Annals of clinical and translational neurology.

Treatment of epilepsy in severely disabled children with bilateral brain malformations

Y. Maegaki, M. Sasaki, T. Otsuki, 2009, Journal of Neurological Sciences.

Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy

S. Saitoh, S. Takeda, Y. Maegaki, 2020, Annals of clinical and translational neurology.

Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients

M. Sasaki, M. Murata, K. Sugai, 2015, Neuromuscular Disorders.

Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations

K. Kikuchi, S. Saitoh, M. Sasaki, 2015, Brain and Development.

Non-convulsive status epilepticus and audiogenic seizures complicating a patient with asymmetrical epileptic spasms

M. Sasaki, E. Nakagawa, K. Sugai, 2010, Brain and Development.

Trends in steroid therapy for Duchenne muscular dystrophy in Japan

N. Yonemoto, Harumasa Nakamura, H. Komaki, 2016, Muscle & nerve.

Highly sensitive screening of antisense sequences for different types of DMD mutations in patients' urine-derived cells

Y. Aoki, Yuji Takahashi, A. Ishiyama, 2021, Journal of the Neurological Sciences.

Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride

M. Hoshino, Y. Aoki, A. Ishiyama, 2019, Scientific Reports.

Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus

M. Sasaki, E. Nakagawa, K. Sugai, 2009, Epilepsy Research.

Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy

Soichiro Kishi, Y. Matsuzaka, Y. Aoki, 2014, Environmental Health and Preventive Medicine.

Reversible infantile respiratory chain deficiency: A clinical and molecular study

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

Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy

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

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.

Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status

Y. Goto, S. Takeda, N. Minami, 2017, Stem cells international.

Co‐existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy

K. Arima, I. Nonaka, M. Mizuguchi, 2002, Neuropathology : official journal of the Japanese Society of Neuropathology.

Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice

Y. Matsuzaka, U. Rüegg, A. Ishiyama, 2016, PloS one.

A mild case of giant axonal neuropathy without central nervous system manifestation

T. Shiihara, M. Sasaki, H. Takashima, 2016, Brain and Development.

Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients

Toshio Saito, K. Kuroda, M. Sasaki, 2012, Brain and Development.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

K. Yokochi, K. Misawa, C. Kim, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Childhood‐onset cerebellar ataxia in Japan: A questionnaire‐based survey

M. Sasaki, K. Maruo, E. Nakagawa, 2019, Brain and behavior.

A novel mtDNA C11777A mutation in Leigh syndrome.

Y. Goto, I. Nonaka, Takao Takahashi, 2003, Mitochondrion.

Systemic administration of the antisense oligonucleotide NS‐089/NCNP‐02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinical trial

Y. Aoki, Y. Asahina, E. Hida, 2023, medRxiv.

Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis

N. Watanabe, H. Komaki, Y. Shimizu-Motohashi, 2018, Orphanet Journal of Rare Diseases.

Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

T. Yonekawa, M. Sasaki, H. Takashima, 2013, Pediatric neurology.

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients

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

CO2-sensitive tRNA modification associated with human mitochondrial disease

Tsutomu Suzuki, Y. Goto, Y. Sakaguchi, 2018, Nature Communications.

Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children

M. Sasaki, E. Nakagawa, K. Sugai, 2010, Brain and Development.

Case report CD4 + CD25 high regulatory T cell in childhood ocular myasthenia gravis

M. Sasaki, E. Nakagawa, K. Sugai, 2011 .

8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

S. Nabatame, Toshiyuki Yamamoto, M. Sasaki, 2012, Seizure.

Multiple band frequency analysis in a child of medial temporal lobe ganglioglioma

Yoshiaki Saito, Taisuke Otsuki, Hirofumi Komaki, 2011, Child's Nervous System.

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

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

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.

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

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

[Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance].

M. Sasaki, E. Nakagawa, K. Sugai, 2012, No to hattatsu = Brain and development.

Prognostic impact of venous thromboembolism in patients with Duchenne muscular dystrophy: Prospective multicenter 5-year cohort study.

I. Komuro, T. Komori, H. Morita, 2015, International journal of cardiology.

Brachial and lumbar plexuses in chronic inflammatory demyelinating polyradiculoneuropathy: MRI assessment including apparent diffusion coefficient

H. Matsuda, F. Yamashita, M. Sasaki, 2010, Neuroradiology.

Left Ventricular End-Diastolic Diameter and Cardiac Mortality in Duchenne Muscular Dystrophy

Norio Sugawara, Yuji Takahashi, M. Sasaki, 2020, Neuropsychiatric disease and treatment.

NDT_A_235166 171..178

Norio Sugawara, Yuji Takahashi, M. Sasaki, 2020 .

Bromoderma in a patient with migrating partial seizures in infancy

S. Nabatame, M. Sasaki, E. Nakagawa, 2010, Epilepsy Research.

Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation

N. Matsumoto, H. Saitsu, M. Sasaki, 2015, Brain and Development.

Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan

I. Nonaka, M. Sasaki, K. Sugai, 2016, Brain and Development.

Linear cortical cystic lesions: Characteristic MR findings in MELAS patients

M. Sasaki, N. Sato, E. Takeshita, 2021, Brain and Development.

Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy

Y. Maegaki, K. Ohno, Yoshiaki Saito, 2007, Brain and Development.

[A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder].

M. Sasaki, E. Nakagawa, N. Sato, 2007, No to hattatsu = Brain and development.

A case of bulbar type cerebral palsy: Representative symptoms of dorsal brainstem syndrome

Toshiyuki Yamamoto, M. Sasaki, E. Nakagawa, 2012, Brain and Development.

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

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

A case of congenital axonal neuropathy associated with West syndrome

I. Nonaka, M. Sasaki, E. Nakagawa, 2011, Brain and Development.

Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene

Y. Goto, I. Nonaka, H. Komaki, 2000, Journal of Human Genetics.

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

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

Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy

S. Nabatame, M. Sasaki, E. Nakagawa, 2011, Epilepsy Research.

Near-infrared Spectroscopy-based Assessment of Ictal Cerebral Hemodynamics of a Frontal Area in Startle Epilepsy

M. Sasaki, E. Nakagawa, K. Sugai, 2012 .

Startle epilepsy associated with gait‐induced seizures: Pathomechanism analysis using EEG, MEG, and PET studies

M. Sasaki, E. Nakagawa, Y. Kaneko, 2009, Epilepsia.

Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection

N. Higurashi, M. Sasaki, E. Nakagawa, 2011, Brain and Development.

Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.

N. Fuku, A. Ohtake, K. Murayama, 2010, Biochimica et biophysica acta.

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

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

Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy

Yuji Takahashi, M. Sasaki, H. Tachimori, 2017, Medicine.

Muscle impairment in MRI affect variability in treatment response to nusinersen in patients with spinal muscular atrophy type 2 and 3: A retrospective cohort study

S. Ito, M. Sasaki, K. Mizuno, 2022, Brain and Development.

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.

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

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

A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis

H. Saitsu, M. Nakashima, M. Sasaki, 2020, Brain and Development.

Tremor and seizures associated with chronic manganese intoxication

T. Hashimoto, K. Sugai, H. Komaki, 1999, Brain and Development.

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.

A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells

K. Ohno, T. Araki, H. Sakurai, 2022, Human molecular genetics.

Quantitative Analysis of Surface Electromyography for Pediatric Neuromuscular Disorders

M. Sonoo, H. Uesugi, S. Murayama, 2015, Muscle and Nerve.

Mutations Causing Slow‐Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

K. Ohno, M. Milone, A. Engel, 2016, Human mutation.

[Clinical features of congenital myasthenic syndrome in Japan].

A. Okumura, M. Sasaki, Y. Azuma, 2012, No to hattatsu = Brain and development.

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.

Mutations in the C‐Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ–MuSK Interaction

A. Masuda, K. Ohno, S. Kojima, 2013, Human mutation.

CD4+CD25high regulatory T cell in childhood ocular myasthenia gravis

M. Sasaki, E. Nakagawa, K. Sugai, 2011, Brain & development (Tokyo. 1979).

A case of intraneural perineurioma presenting with monomelic atrophy in a child

I. Nonaka, M. Sasaki, N. Sato, 2010, Brain and Development.

Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy

T. Yonekawa, M. Sasaki, K. Sugai, 2013, Brain and Development.

Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis

I. Takamisawa, M. Sasaki, E. Nakagawa, 2012, Developmental medicine and child neurology.

G.P.251 Exon 53 skipping of the dystrophin gene in patients with Duchenne muscular dystrophy by systemic administration of NS-065/NCNP-01: A phase 1, dose escalation, first-in-human study

S. Takeda, M. Sasaki, T. Nagata, 2015, Neuromuscular Disorders.

Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study

A. Takahashi, M. Sasaki, E. Nakagawa, 2013, Brain and Development.

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

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

Static Leukoencephalopathy Associated with 17p13.3 Microdeletion Syndrome: A Case Report

Y. Goto, M. Sasaki, E. Nakagawa, 2019, Neuropediatrics.

[Hereditary spastic paraplegia associated with congenital cataracts, mental retardation and peripheral neuropathy].

M. Sasaki, E. Nakagawa, K. Sugai, 2010, No to hattatsu = Brain and development.

Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery

A. Takahashi, Y. Nakata, M. Sasaki, 2014, Brain and Development.

Alteration of the anatomical covariance network after corpus callosotomy in pediatric intractable epilepsy

H. Matsuda, M. Inagaki, M. Iwasaki, 2019, PloS one.

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.

Hyperkinetic movement disorder in a child treated by globus pallidus stimulation

M. Sasaki, Hideyuki Nakama, T. Otsuki, 2009, Brain & development (Tokyo. 1979).

Importance of CAG repeat length in childhood-onset dentatorubral–pallidoluysian atrophy

Y. Goto, M. Sasaki, Hajime Tanaka, 2012, Journal of Neurology.

Hypoalbuminemia in early onset dentatorubral−pallidoluysian atrophy due to leakage of albumin in multiple organs

Y. Goto, S. Ito, K. Matsuoka, 2013, Journal of Neurology.

Exacerbation of Epileptic Seizures after Japanese Encephalitis Vaccination: A Case Report

M. Sasaki, E. Nakagawa, K. Sugai, 2015 .

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

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

Expectations and anxieties of Duchenne muscular dystrophy patients and their families during the first-in-human clinical trial of NS-065/NCNP-01

H. Tachimori, E. Takeshita, H. Komaki, 2020, Brain and Development.

New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies

H. Matsuda, M. Sasaki, N. Sato, 2020, American Journal of Neuroradiology.

CO2-sensitive tRNA modification associated with human mitochondrial disease

Tsutomu Suzuki, Y. Sakaguchi, S. Nakagawa, 2018, Nature Communications.

Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers

M. Sasaki, H. Tachimori, E. Nakagawa, 2018, Brain and Development.

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

C. Palermo, M. Pane, E. Mercuri, 2018, Neuromuscular Disorders.

Effects of low-dose hydrochlorothiazide on urolithiasis and bone metabolism in severely disabled individuals: A pilot study

M. Sasaki, K. Sugai, Yoshiaki Saito, 2011, Brain and Development.

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

I. Nishino, K. Iwasawa, T. Okuyama, 2018, Brain & development (Tokyo. 1979).

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

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