Y. Hayashi

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.

Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.

K. Suzuki, H. Yonekawa, I. Nonaka, 2000, Human molecular genetics.

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.

Toward the development of a vibrant, super‐aged society: The future of medicine and society in Japan

Y. Ouchi, Y. Hayashi, H. Arai, 2021, Geriatrics & gerontology international.

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.

Abnormal localization of laminin subunits in muscular dystrophies

E. Engvall, I. Nonaka, Y. Hayashi, 1993, Journal of the Neurological Sciences.

Altered expression of the α7β1 integrin in human and murine muscular dystrophies

I. Nonaka, Y. Hayashi, S. Kaufman, 1997 .

Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy

I. Nonaka, Y. Hayashi, S. Noguchi, 2001, Neurology.

Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle.

I. Nonaka, Y. Hayashi, H. Yamamoto, 1994, Biochemical and biophysical research communications.

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

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

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

Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy

Y. Hayashi, K. Arahata, E. Ozawa, 1993, The Lancet.

Mutations in the integrin alpha7 gene cause congenital myopathy.

E. Hoffman, K. Yokochi, R. Kramer, 1998, Nature genetics.

Renal involvement in the pathogenesis of mineral and bone disorder in dystrophin-deficient mdx mouse

Y. Hayashi, R. Matsuda, T. Hamano, 2019, The Journal of Physiological Sciences.

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.

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.

Nuclear envelope myopathy

Y. Hayashi, 2022, Neurology and Clinical Neuroscience.

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.

Tongue atrophy in facioscapulohumeral muscular dystrophy

Y. Hayashi, T. Komori, K. Goto, 2001, 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.

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

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

Characteristic findings of skeletal muscle MRI in caveolinopathies

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

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

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

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.

Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients

Y. Hayashi, K. Goto, K. Arahata, 2002, BMC neurology.

[Molecular pathomechanism of distal myopathy with rimmed vacuoles].

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

Congenital muscular dystrophies.

Y. Hayashi, K. Arahata, H. Ishii, 1995, Current Opinion in Neurology.

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

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

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.

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.

Pathology of frontotemporal dementia with limb girdle muscular dystrophy caused by a DNAJB6 mutation

Y. Hayashi, S. Hatakeyama, H. Sasaki, 2014, Clinical Neurology and Neurosurgery.

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

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

Treatment with the anti-IL-6 receptor antibody attenuates muscular dystrophy via promoting skeletal muscle regeneration in dystrophin-/utrophin-deficient mice

Y. Hayashi, R. Matsuda, S. Takeda, 2017, Skeletal Muscle.

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

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

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

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

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

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

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

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

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy

I. Nonaka, Y. Hayashi, M. Nakagawa, 1999 .

Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.

Y. Hayashi, W. Liang, Y. Jong, 2007, Journal of the Formosan Medical Association = Taiwan yi zhi.

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

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

Affixin activates Rac1 via βPIX in C2C12 myoblast

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

Instructions for use Title Pathology of frontotemporal dementia with limb girdlemuscular dystrophy caused by a DNAJB 6 mutation

Y. Hayashi, S. Hatakeyama, H. Sasaki, 2016 .

Congenital muscular dystrophy

I. Nonaka, Y. Hayashi, K. Arahata, 1996, Neurology.

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 .

[Clinical and genetical features of Japanese early-onset facioscapulohumeral muscular dystrophy].

Y. Hayashi, K. Goto, K. Arahata, 2002, No to hattatsu = Brain and development.

Common Data Elements for Muscle Biopsy Reporting.

H. Goebel, Ke Yan, Y. Hayashi, 2016, Archives of pathology & laboratory medicine.

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

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

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.

[Recent advances in facioscapulohumeral muscular dystrophy].

Y. Hayashi, K. Goto, Ichizo Nishio, 2012, Rinshō shinkeigaku Clinical neurology.

A benign allelic form of laminin α2 chain deficient muscular dystrophy

K. Domen, Y. Hayashi, K. Arahata, 1997, The Lancet.

Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy.

T. Matsuishi, T. Tsukahara, I. Nonaka, 1995, Muscle & nerve.

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

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

Molecular dynamics simulation of myopathy-related mutant FHL1 in water and analysis of structure stabilization

Y. Hayashi, M. Takasu, T. Miyakawa, 2019, PROCEEDINGS OF THE INTERNATIONAL CONFERENCE OF COMPUTATIONAL METHODS IN SCIENCES AND ENGINEERING 2019 (ICCMSE-2019).

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.

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

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

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Shigeaki Suzuki, Atsuko Nishikawa, Hiroaki Nishimura, 2015 .

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

J. Towbin, I. Nonaka, Y. Hayashi, 2017, American journal of human genetics.

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

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

[The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene].

Y. Hayashi, T. Ogawa, K. Goto, 2002, Rinsho shinkeigaku = Clinical neurology.