M. Mori-Yoshimura

发表

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

S. Tsuji, T. Kanda, Toshio Shimizu, 2021, JAMA neurology.

Brain gray matter structural network in myotonic dystrophy type 1

H. Matsuda, M. Ota, S. Kuwabara, 2017, PloS one.

Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry

N. Yonemoto, I. Nishino, S. Yoshida, 2017, Brain and Development.

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure

J. Kira, I. Nonaka, Y. Hayashi, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Cardiopulmonary dysfunction in patients with limb‐girdle muscular dystrophy 2A

I. Nonaka, I. Nishino, N. Minami, 2016, Muscle & nerve.

Assessment of disease progression in dysferlinopathy A 1-year cohort study

A. Pestronk, A. Blamire, J. Mendell, 2022 .

Comparison of strength testing modalities in dysferlinopathy

A. Mayhew, K. Bushby, D. Bharucha-Goebel, 2022, Muscle & nerve.

Decreased resting energy expenditure in patients with Duchenne muscular dystrophy

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

Videofluorographic detection of anti-muscle-specific kinase-positive myasthenia gravis.

Toshiyuki Yamamoto, M. Murata, N. Chihara, 2012, American journal of otolaryngology.

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan

I. Nishino, R. Kaji, S. Nakano, 2016, Orphanet Journal of Rare Diseases.

Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene

Toshio Shimizu, Y. Hayashi, T. Komori, 2016, Neuromuscular Disorders.

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

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

Riluzole-induced interstitial lung disease is a rare and potentially life-threatening adverse event successfully treated with high-dose steroid therapy: Case reports and review of the literature

Yuji Takahashi, T. Okamoto, M. Mori-Yoshimura, 2019, Journal of the Neurological Sciences.

Extra-muscular manifestations in GNE myopathy patients: A nationwide repository questionnaire survey in Japan

I. Nishino, Yuji Takahashi, Yuriko Oda, 2021, Clinical Neurology and Neurosurgery.

Complications in GNE myopathy patients: A nationwide repository questionnaire survey in Japan

I. Nishino, S. Yoshida, Yuji Takahashi, 2021 .

Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale

A. Pestronk, A. Blamire, J. Mendell, 2021, Annals of neurology.

Diagnostic Yield of Chilaiditi's Sign in Advanced-Phase Late-Onset Pompe Disease.

I. Nishino, Yuji Takahashi, N. Sato, 2021, Journal of neuromuscular diseases.

Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients

I. Nishino, Yuji Takahashi, K. Mizuno, 2021, Muscle & nerve.

Long-term Evaluation Parameters in GNE Myopathy: A Five-year Observational Follow-up Natural History Study

I. Nishino, K. Mizuno, S. Noguchi, 2021 .

GNE myopathy: A prospective natural history study of disease progression

N. Yonemoto, Y. Hayashi, I. Nishino, 2014, Neuromuscular Disorders.

Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study

I. Nonaka, Y. Hayashi, I. Nishino, 2012, Journal of Inherited Metabolic Disease.

Detection and management of cardiomyopathy in female dystrophinopathy carriers

M. Akaike, T. Iwase, S. Takao, 2017, Journal of the Neurological Sciences.

Respiratory and cardiac function in japanese patients with dysferlinopathy

N. Yonemoto, I. Nonaka, Y. Hayashi, 2016, Muscle & nerve.

I. Nishino, Toshiyuki Yamamoto, Yuji Takahashi, 2020, Journal of the Neurological Sciences.

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

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

Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy

I. Nishino, S. Yoshida, Yuji Takahashi, 2022, Neuromuscular Disorders.

Translational Research in Muscular Dystrophy

S. Takeda, M. Mori-Yoshimura, Y. Miyagoe-Suzuki, 2016 .

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.

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.

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.

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.

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

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

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

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

The Clinical Outcome Study for dysferlinopathy

A. Pestronk, A. Blamire, J. Mendell, 2016, Neurology: Genetics.

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.

Nationwide patient registry for GNE myopathy in Japan

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

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.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

H. Otero, A. Pestronk, A. Blamire, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy

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

[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.

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

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

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.

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism

G. Oyama, N. Hattori, H. Yoshino, 2015, Neurobiology of Aging.

Assessment of disease progression in dysferlinopathy

A. Pestronk, A. Blamire, J. Mendell, 2019, Neurology.

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients

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

Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy.

T. Nagasao, K. Kishi, Shigeaki Suzuki, 2013, Journal of plastic, reconstructive & aesthetic surgery : JPRAS.

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.

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

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

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.

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.

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

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

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.

Clinical Aspects of GNE Myopathy and Translational Medicine

M. Mori-Yoshimura, 2016 .

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

A. Pestronk, A. Blamire, J. Mendell, 2021, Neuromuscular Disorders.

Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

A. Pestronk, A. Blamire, J. Mendell, 2022, Frontiers in Neurology.

Linear cortical cystic lesions: Characteristic MR findings in MELAS patients

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

[Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy].

K. Ohno, M. Murata, T. Nakata, 2014, Rinshō shinkeigaku Clinical neurology.

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.

Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy

A. Pestronk, J. Mendell, A. Mayhew, 2023, Neuromuscular Disorders.

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

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

National registry of patients with Fukuyama congenital muscular dystrophy in Japan

Takatoshi Sato, T. Toda, M. Ōsawa, 2018, Neuromuscular Disorders.

Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy

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

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.

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.

Water T2 could predict functional decline in patients with dysferlinopathy

A. Pestronk, A. Blamire, J. Mendell, 2022, Journal of cachexia, sarcopenia and muscle.

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.

D03 Clinical Outcome Study of Dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?

A. Pestronk, A. Mayhew, K. Bushby, 2018, Neuromuscular Disorders.

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.

Quantitative Analysis of Surface Electromyography for Pediatric Neuromuscular Disorders

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

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

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

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

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

Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study

J. Bourke, A. Pestronk, A. Blamire, 2022, Muscle & nerve.

Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern

A. Pestronk, A. Blamire, J. Mendell, 2023, Neuromuscular Disorders.

Unique Lewy pathology in myotonic dystrophy type 1

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

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

A. Pestronk, A. Blamire, J. Mendell, 2020, Frontiers in Neurology.

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

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

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

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

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.

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

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

Emery‐Dreifuss muscular dystrophy‐related myopathy with TMEM43 mutations

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

Detection and management of cardiomyopathy in female dystrophinopathy carriers

M. Akaike, T. Iwase, S. Takao, 2017, Journal of the Neurological Sciences.

Natural history of Becker muscular dystrophy: a multicenter study of 225 patients

Y. Maegaki, T. Matsumura, H. Tachimori, 2023, Annals of clinical and translational neurology.