S. Hayashi

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.

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.

Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES

I. Nishino, A. Iida, S. Noguchi, 2020, Neuromuscular Disorders.

A recurrent homozygous ACTN2 variant associated with core myopathy

Y. Okada, I. Nishino, A. Taniguchi, 2021, Acta Neuropathologica.

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

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

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.

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4

Y. Inoue, Takayoshi Inoue, I. Nishino, 2022, bioRxiv.

COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency

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

Muscle pathology of antisynthetase syndrome according to antibody subtypes

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

Dermatomyositis

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

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.

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

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

Pathologic Features of Anti-Mi-2 Dermatomyositis

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

Dermatomyositis: Muscle Pathology According to Antibody Subtypes

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

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.

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.

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.

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.

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

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

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

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

Muscle biochemical and pathological diagnosis in Pompe disease

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

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.

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

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

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

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

Deep convolutional neural network-based algorithm for muscle biopsy diagnosis

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

Guidelines for the use and interpretation of assays for monitoring autophagy

Robert Clarke, Hong Jiang, Hiroyuki Ishida, 2012 .