M. Ogawa

发表

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

K. Campbell, I. Nonaka, Y. Hayashi, 2005, Neuromuscular disorders : NMD.

Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan

I. Nonaka, Y. Hayashi, I. Nishino, 2005, Neuromuscular Disorders.

Milder forms of muscular dystrophy associated with POMGNT2 mutations

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

Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles.

I. Nonaka, Y. Hayashi, I. Nishino, 2006, The American journal of pathology.

Direct uptake mechanism in lysosome required for neuromuscular homeostasis

Y. Inoue, Takayoshi Inoue, I. Nishino, 2020, bioRxiv.

Subcellular localization of fukutin and fukutin-related protein in muscle cells.

Y. Hayashi, I. Nishino, S. Noguchi, 2004, Journal of biochemistry.

Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles*

I. Nonaka, Y. Hayashi, I. Nishino, 2004, Journal of Biological Chemistry.

POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG

R. Sakuta, K. Campbell, I. Nonaka, 2004, Neurology.

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

I. Nonaka, Y. Hayashi, I. Nishino, 2009, The Journal of clinical investigation.

A Nationwide Survey on Danon Disease in Japan

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

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene

T. Kishimoto, Y. Hayashi, I. Nishino, 2016, Neuropathology : official journal of the Japanese Society of Neuropathology.

Characterization of Danon disease in a male patient and his affected mother

I. Nonaka, I. Nishino, Kiyoharu Inoue, 2003, Neuromuscular Disorders.

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy

I. Nonaka, I. Nishino, M. Malicdan, 2016, EBioMedicine.

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

I. Nishino, M. Malicdan, S. Noguchi, 2014, Molecular therapy. Nucleic acids.

A recurrent homozygous ACTN2 variant associated with core myopathy

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

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan

Y. Hayashi, I. Nishino, W. Liang, 2013, Neuromuscular Disorders.

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

K. Campbell, I. Nonaka, Y. Hayashi, 2006, Annals of neurology.

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

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

Discovery of a protein uptake pathway in lysosomes

Y. Inoue, Takayoshi Inoue, I. Nishino, 2020 .

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.

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.

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.

A new diagnostic test for VLCAD deficiency using immunohistochemistry

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

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.

I. Nonaka, Y. Hayashi, K. Tagawa, 2001, Neurology.

Mutations in the integrin α7 gene cause congenital myopathy

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

Emerin deficiency at the nuclear membrane in patients with Emery-Dreif uss muscular dystrophy

T. Tsukahara, Y. Hayashi, K. Arahata, 1996, Nature Genetics.

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

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

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.

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

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

Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy

T. Tsukahara, E. Uyama, K. Goto, 2000, 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.

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

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

Mutations in the integrin alpha7 gene cause congenital myopathy.

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

Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice

J. Kira, S. Takeda, Y. Aoki, 2021, 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.

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.

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.

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

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

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

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

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy

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

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

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

Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy.

Y. Tsuchiya, K. Arahata, H. Yorifuji, 2001, European journal of biochemistry.

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

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