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I. Nonaka · SciRah

Researcher profile · Semantic Scholar

I. Nonaka

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I. Nonaka — researcher profile on SciRah

h-index: 83
Works: 651
Citations: 31K

Most-cited papers

Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice
Naotada Ishihara, M. Nomura, A. Jofuku, Hiroki Kato +12 more
2009Nature Cell Biology1,076 citations
Semantic Scholar
Autophagic degradation of nuclear components in mammalian cells
Young-Eun Park, Y. Hayashi, G. Bonne, T. Arimura +3 more
2009Autophagy224 citations Open access
Semantic Scholar
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
Y. Endo, S. Noguchi, Yuji Hara, Y. Hayashi +11 more
2015Human Molecular Genetics164 citations
Semantic Scholar
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
S. Mitsuhashi, A. Ohkuma, B. Talim, Minako Karahashi +20 more
2011American Journal of Human Genetics131 citations Open access
Semantic Scholar
TMEM43 mutations in emery‐dreifuss muscular dystrophy‐related myopathy
W. Liang, H. Mitsuhashi, E. Keduka, I. Nonaka +3 more
2011Annals of Neurology124 citations
Semantic Scholar
Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.
Misato Fujita, H. Mitsuhashi, Sumio Isogai, T. Nakata +6 more
2012Developmental Biology113 citations Open access
Semantic Scholar
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
M. Ogasawara, A. Iida, T. Kumutpongpanich, A. Ozaki +14 more
2020medRxiv107 citations Open access
Semantic Scholar
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
S. Mitsuhashi, Hideyuki Hatakeyama, Minako Karahashi, Tomoko Koumura +9 more
2011Human Molecular Genetics91 citations Open access
Semantic Scholar
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
S. Miyatake, S. Mitsuhashi, Y. Hayashi, E. Purevjav +19 more
2017American Journal of Human Genetics78 citations Open access
Semantic Scholar
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.
Takahiro Yonekawa, M. Malicdan, A. Cho, Y. Hayashi +5 more
2014Brain : a journal of neurology73 citations Open access
Semantic Scholar
Inflammatory changes in infantile-onset LMNA-associated myopathy.
H. Komaki, Y. Hayashi, R. Tsuburaya, K. Sugie +15 more
2011Neuromuscular Disorders69 citations
Semantic Scholar
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)
A. Cho, Y. Hayashi, K. Monma, Y. Oya +3 more
2013Journal of Neurology Neurosurgery & Psychiatry68 citations
Semantic Scholar
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy
A. Cho, M. Christine, V. Malicdan, M. Miyakawa +3 more
2017Human Molecular Genetics66 citations Open access
Semantic Scholar
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.
Takatoshi Sato, Y. Hayashi, Y. Oya, T. Kondo +9 more
2013Neuromuscular Disorders60 citations
Semantic Scholar
Increase in number of sporadic inclusion body myositis (sIBM) in Japan
N. Suzuki, M. Aoki, M. Mori-Yoshimura, Y. Hayashi +2 more
2012Journal of Neurology57 citations
Semantic Scholar
Characterization of the Asian myopathy patients with VCP mutations
Z. Shi, Yukiko K. Hayashi, S. Mitsuhashi, Kanako Goto +10 more
2012European Journal of Neurology56 citations
Semantic Scholar
Peracetylated N-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy*
M. Malicdan, S. Noguchi, Tomoharu Tokutomi, Yu-ichi Goto +3 more
2011Journal of Biological Chemistry49 citations Open access
Semantic Scholar
A Nationwide Survey on Danon Disease in Japan
K. Sugie, H. Komaki, N. Eura, T. Shiota +9 more
2018International Journal of Molecular Sciences45 citations Open access
Semantic Scholar
Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy.
M. Mori-Yoshimura, Yukio Mizuno, S. Yoshida, Naoko Ishihara +10 more
2019Neuromuscular Disorders41 citations Open access
Semantic Scholar
DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan
M. Dong, S. Noguchi, Y. Endo, Y. Hayashi +3 more
2015Neurology41 citations
Semantic Scholar
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing
E. Kondo, T. Nishimura, T. Kosho, Y. Inaba +8 more
2012American Journal of Medical Genetics. Part A41 citations
Semantic Scholar
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
E. Bonora, Sanjiban Chakrabarty, Georgios Kellaris, M. Tsutsumi +63 more
2021Brain : a journal of neurology40 citations Open access
Semantic Scholar
Hepatitis C virus infection in inclusion body myositis
A. Uruha, S. Noguchi, Y. Hayashi, R. Tsuburaya +3 more
2016Neurology38 citations
Semantic Scholar
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study
Y. Furusawa, M. Mori-Yoshimura, Toshiyuki Yamamoto, C. Sakamoto +10 more
2012Journal of Inherited Metabolic Disease38 citations
Semantic Scholar
Reversible infantile respiratory chain deficiency: A clinical and molecular study
M. Mimaki, Hideyuki Hatakeyama, H. Komaki, M. Yokoyama +6 more
2010Annals of Neurology38 citations
Semantic Scholar
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy
A. Ishiyama, C. Sakai, Y. Matsushima, S. Noguchi +12 more
2017Neurology: Genetics37 citations Open access
Semantic Scholar
Changes in mitochondrial homeostasis and redox status in astronauts following long stays in space
Hiroko P. Indo, H. Majima, M. Terada, S. Suenaga +10 more
2016Scientific Reports34 citations Open access
Semantic Scholar
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure
A. Uruha, Y. Hayashi, Y. Oya, M. Mori-Yoshimura +18 more
2014Journal of Neurology Neurosurgery & Psychiatry33 citations
Semantic Scholar
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.
N. Murakami, Y. Hayashi, Yuji Oto, Masahisa Shiraishi +5 more
2013Neuromuscular Disorders33 citations
Semantic Scholar
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.
R. Tsuburaya, K. Monma, Y. Oya, T. Nakayama +5 more
2012Neuromuscular Disorders32 citations
Semantic Scholar
In vivo characterization of mutant myotilins.
E. Keduka, Y. Hayashi, S. Shalaby, H. Mitsuhashi +3 more
2012American Journal of Pathology32 citations Open access
Semantic Scholar
Respiratory and cardiac function in japanese patients with dysferlinopathy
A. Nishikawa, M. Mori-Yoshimura, K. Segawa, Y. K. Hayashi +14 more
2016Muscle and Nerve30 citations
Semantic Scholar
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy
Takahiro Yonekawa, H. Komaki, M. Okada, Y. Hayashi +4 more
2013Journal of Neurology Neurosurgery & Psychiatry30 citations
Semantic Scholar
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features
Yoshihiko Saito, A. Nishikawa, A. Iida, M. Mori-Yoshimura +12 more
2020Neurology28 citations
Semantic Scholar
Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies
K. Momma, S. Noguchi, M. Malicdan, Y. Hayashi +4 more
2012PLoS ONE28 citations Open access
Semantic Scholar
Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy
H. Harada, T. Hayashi, H. Nishi, Ken Kusaba +4 more
2018Journal of Human Genetics27 citations
Semantic Scholar
Milder forms of muscular dystrophy associated with POMGNT2 mutations
Y. Endo, M. Dong, S. Noguchi, M. Ogawa +7 more
2015Neurology: Genetics27 citations Open access
Semantic Scholar
A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.
A. Hattori, H. Komaki, Masao Kawatani, H. Sakuma +7 more
2012Neuromuscular Disorders27 citations
Semantic Scholar
COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency
M. Inoue, S. Uchino, A. Iida, S. Noguchi +13 more
2019Annals of Neurology26 citations Open access
Semantic Scholar
A nationwide survey on Marinesco-Sjögren syndrome in Japan
Masahide Goto, M. Okada, H. Komaki, K. Sugai +5 more
2014Orphanet Journal of Rare Diseases26 citations Open access
Semantic Scholar
Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.
K. Takayama, S. Mitsuhashi, Je-Young Shin, R. Tanaka +6 more
2016Neuromuscular Disorders25 citations
Semantic Scholar
Cardiopulmonary dysfunction in patients with limb‐girdle muscular dystrophy 2A
M. Mori-Yoshimura, K. Segawa, N. Minami, Y. Oya +4 more
2016Muscle and Nerve25 citations Open access
Semantic Scholar
Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy
S. Noguchi, M. Ogawa, M. Malicdan, I. Nonaka +1 more
2016EBioMedicine23 citations Open access
Semantic Scholar
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
K. Ishii, H. Komaki, A. Ohkuma, I. Nishino +2 more
2010Brain & development (Tokyo. 1979)22 citations
Semantic Scholar
Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.
T. Kurashige, Tetsuya Takahashi, Yuu Yamazaki, Y. Nagano +8 more
2013Neuromuscular Disorders21 citations Open access
Semantic Scholar
Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan.
Masahide Goto, H. Komaki, E. Takeshita, Yoshiki Abe +5 more
2016Brain & development (Tokyo. 1979)20 citations
Semantic Scholar
A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract.
I. Sato, Akira Onuma, Nobue Goto, F. Sakai +7 more
2011Journal of Neurological Sciences19 citations
Semantic Scholar
Dietary phosphorus overload aggravates the phenotype of the dystrophin-deficient mdx mouse.
Eiji Wada, Mizuko Yoshida, Y. Kojima, I. Nonaka +7 more
2014American Journal of Pathology18 citations Open access
Semantic Scholar
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.
M. Mori-Yoshimura, A. Okuma, Y. Oya, Chieko Fujimura-Kiyono +8 more
2012Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)18 citations
Semantic Scholar
Congenital fiber type disproportion myopathy caused by LMNA mutations.
S. Kajino, K. Ishihara, K. Goto, K. Ishigaki +5 more
2014Journal of Neurological Sciences16 citations
Semantic Scholar

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Y. Hayashi×27
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S. Noguchi×25
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H. Komaki×12
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S. Mitsuhashi×8

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M. Mori-Yoshimura×8

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Yu-ichi Goto×6

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Yu-ichi Goto — researcher profile on SciRah

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R. Tsuburaya×5

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M. Murata — researcher profile on SciRah