S. Noguchi

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.

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.

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

I. Nonaka, I. Nishino, K. Chida, 2002, Neurology.

Formation of sarcoglycan complex with differentiation in cultured myocytes.

S. Noguchi, E. Ozawa, M. Imamura, 2000, European journal of biochemistry.

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 .

Sarcoglycan complex is selectively lost in dystrophic hamster muscle.

I. Nonaka, H. Yamamoto, S. Noguchi, 1995, The American journal of pathology.

TMEM43 mutations in emery‐dreifuss muscular dystrophy‐related myopathy

I. Nonaka, Y. Hayashi, I. Nishino, 2011, Annals of neurology.

A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system.

S. Noguchi, E. Ozawa, M. Imamura, 2000, Human molecular genetics.

Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy.

H. Hama, T. Sasaoka, S. Noguchi, 2000, Human molecular genetics.

Dystrophin‐associated protein A0 is a homologue of the Torpedo 87K protein

Hideko Yamamoto, S. Noguchi, E. Ozawa, 1995, FEBS letters.

cDNA microarray analysis of individual Duchenne muscular dystrophy patients.

Tatsushi Toda, Satoru Noguchi, Ichizo Nishino, 2003, Human molecular genetics.

Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside.

H. Yamamoto, S. Noguchi, Y. Mizuno, 1994, European journal of biochemistry.

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.

Pathological analysis of muscle hypertrophy and degeneration in muscular dystrophy in γ-sarcoglycan-deficient mice

Kiyotoshi Kaneko, Satoru Noguchi, Hiroshi Hama, 2003, Neuromuscular Disorders.

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.

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

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

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

Erratum: β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex (Nature Genetics (1995) 11 266-273))

L. Kunkel, E. Hoffman, C. Angelini, 1996 .

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

J. Kira, S. Takeda, Y. Aoki, 2021, Human molecular genetics.

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

Susan C. Brown, F. Muntoni, N. Romero, 2005, Neuromuscular Disorders.

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.

Advances in understanding of the natural history, mechanism, extra‐muscular manifestations and treatment of GNE myopathy

I. Nishino, S. Noguchi, Madoka Mori, 2022, Neurology and Clinical Neuroscience.

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/ hereditary inclusion body myopathy, a sugar-deficient myopathy: a review

I. Nishino, M. Malicdan, S. Noguchi, 2010, Therapeutic advances in neurological disorders.

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.

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.

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

E. Kerty, I. Nishino, M. Nakagawa, 2019, Neuromuscular Disorders.

Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation

I. Nishino, Yuji Takahashi, S. Noguchi, 2019, Brain and Development.

Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle

I. Nonaka, I. Nishino, P. Saftig, 2008, Neuromuscular Disorders.

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

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

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

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

[Molecular pathomechanism of distal myopathy with rimmed vacuoles].

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

Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency

I. Shiojima, I. Nishino, H. Tsukaguchi, 2018, Scientific Reports.

Autophagy in a Mouse Model of Distal Myopathy with Rimmed Vacuoles or Hereditary Inclusion Body Myopathy

I. Nishino, M. Malicdan, S. Noguchi, 2007, Autophagy.

Molecular Pathogenesis and Therapeutic Strategy in GNE Myopathy

S. Noguchi, H. Nishimura, 2016 .

Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?

I. Nishino, M. Malicdan, S. Noguchi, 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

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

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

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.

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

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

P.441 Tubular aggregate myopathy with dystrophic features

I. Nishino, E. Koshimizu, S. Noguchi, 2017, Neuromuscular Disorders.