Rumiko Izumi

Tohoku University — Japan

Medicine · Health Sciences

20h-index1.1kcitations90works1.42yr avg
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Research Topics

Inflammatory Myopathies and Dermatomyositis(32), Muscle Physiology and Disorders(24), Amyotrophic Lateral Sclerosis Research(20), Neurogenetic and Muscular Disorders Research(18), Eosinophilic Disorders and Syndromes(8)

Publications89 total

KLHL9-linked distal myopathy: a second family suggesting broad phenotypic variability
Neuromuscular Disorders·2025Open Access
An HTLV-1 carrier with sporadic late-onset nemaline myopathy accompanied by skin lesions indicating indolent adult T-cell leukemia/lymphoma and Sjögren’s syndrome: a case report and literature review
Neuromuscular Disorders·2025· 1 cited
Clinicopathological Features of Mixed Connective Tissue Disease‐Related Myositis: A Case Series
Muscle & Nerve·2025Open Access
Bilateral Upper-Extremity Hybrid Assistive Limb Treatment for GNE Myopathy
The Tohoku Journal of Experimental Medicine·2025Open Access
A case of Inclusion Body Myositis with Isolated Dysphagia: An Earlier-stage Diagnosis Using a Surgical Specimen from Cricopharyngeal Myotomy
Internal Medicine·2025Open Access
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying <i>SOD1</i> Variants Revealed Phenotypic Differences for Common Variants
Neurology Genetics·2024· 4 citedOpen Access
61P Characteristics of muscle computed tomography in a family with HSPB8-related rimmed vacuolar myopathy
Neuromuscular Disorders·2024
Sporadic inclusion body myositis-derived myotube culture revealed muscle cell-autonomous expression profiles
PLoS ONE·2024Open Access
Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study
Journal of Neurology Neurosurgery & Psychiatry·2024· 6 citedOpen Access
[Sporadic Inclusion Body Myositis].
PubMed·2024
Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup
The Cerebellum·2024· 4 citedOpen Access
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps
The Cerebellum·2024· 2 citedOpen Access
Case report: An adult case of Poretti-Boltshauser syndrome diagnosed by medical checkup.
Research Square (Research Square)·2024Open Access
Nationwide survey of patients with multisystem proteinopathy in Japan
Annals of Clinical and Translational Neurology·2024· 3 citedOpen Access
Nuclear pore pathology underlying multisystem proteinopathy type 3‐related inclusion body myopathy
Annals of Clinical and Translational Neurology·2023· 2 citedOpen Access
Sporadic inclusion body myositis-derived myotube culture revealed muscle cell-autonomous expression profiles
Research Square (Research Square)·2023Open Access
[Efficacy of Aceneuramic Acid for Distal Myopathy with Rimmed Vacuoles].
PubMed·2023
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
Orphanet Journal of Rare Diseases·2023· 16 citedOpen Access
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
The American Journal of Human Genetics·2023· 22 citedOpen Access
Amyotrophic Lateral Sclerosis with a Priority Request for a Postmortem Kidney Donation to a Relative
Internal Medicine·2023Open Access
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Frequent Co-authors

Masashi Aoki(45), Naoki Suzuki(42), Hitoshi Warita(28), M. Tateyama(22), Masaaki Kato(20), Ayumi Nishiyama(11), Yoko Aoki(11), Hiroshi Kuroda(11), Ichizo Nishino(10), Tetsuya Akiyama(9), Tetsuya Niihori(9), Shio Mitsuzawa(8), Kensuke Ikeda(8), Hiroya Ono(8), Tomomi Shijo(8), Ryo Funayama(7), Yasuo Kitajima(7), Keiko Nakayama(7), Toshiaki Takahashi(6), Naoko Nakamura(6)