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A. Mitsutake · SciRah

Researcher profile · Semantic Scholar

A. Mitsutake

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A. Mitsutake — researcher profile on SciRah

h-index: 8
Works: 59
Citations: 596

Most-cited papers

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
H. Ishiura, S. Shibata, Jun Yoshimura, Yuta Suzuki +46 more
2019Nature Genetics402 citations
Semantic Scholar
TDP‐43 Proteinopathy Presenting with Typical Symptoms of Parkinson's Disease
Rika Yamashita, Goichi Beck, Yuki Yonenobu, Kimiko Inoue +5 more
2022Movement Disorders33 citations
Semantic Scholar
Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene
Natsuko Nakamura, K. Tsunoda, A. Mitsutake, S. Shibata +7 more
2020Investigative Ophthalmology and Visual Science29 citations Open access
Semantic Scholar
CSF P-Tau181 and Other Biomarkers in Patients With Neuronal Intranuclear Inclusion Disease
M. Kurihara, H. Komatsu, R. Sengoku, M. Shibukawa +20 more
2022Neurology28 citations Open access
Semantic Scholar
Lenalidomide-Induced Ischemic Cerebrovascular Disease in Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes Syndrome.
A. Mitsutake, H. Matsumoto, K. Hatano, K. Irie +2 more
2018Journal of Stroke & Cerebrovascular Diseases18 citations
Semantic Scholar
Paraspinal muscle involvement in herpes zoster-induced abdominal wall pseudohernia revealed by electrophysiological and radiological studies.
A. Mitsutake, T. Sasaki, T. Hideyama, Tatsuya Sato +4 more
2017Journal of Neurological Sciences9 citations
Semantic Scholar
Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases
M. Kurihara, Yusuke Sugiyama, Masaki Tanaka, Kenichiro Sato +10 more
2021Internal medicine8 citations Open access
Semantic Scholar
Corticobasal degeneration with deep white matter lesion diagnosed by brain biopsy
A. Arakawa, Yuko Saito, T. Seki, A. Mitsutake +7 more
2020Neuropathology (Kyoto. 1993)8 citations
Semantic Scholar
The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation
N. Takegami, A. Mitsutake, T. Mano, Yukako Shintani-Domoto +12 more
2023Internal medicine7 citations Open access
Semantic Scholar
Clinical and neuroimaging review of triplet repeat diseases
R. Kurokawa, M. Kurokawa, A. Mitsutake, Moto Nakaya +4 more
2022Japanese Journal of Radiology7 citations Open access
Semantic Scholar
Isolated Paravermal Hyperintensities in Neuronal Intranuclear Inclusion Disease
Ryo Tokimura, M. Hashimoto, A. Mitsutake, Souichi Sakai +5 more
2022Neurology6 citations
Semantic Scholar
Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease.
A. Mitsutake, T. Matsukawa, A. Iwata, H. Ishiura +8 more
2023Brain & development (Tokyo. 1979)5 citations Open access
Semantic Scholar
Severe pleuritis and pericarditis associated with very‐late‐onset systemic lupus erythematosus
Hiroaki Ikushima, A. Mitsutake, T. Hideyama, Tatsuya Sato +5 more
2018Journal of general and family medicine5 citations Open access
Semantic Scholar
[A case of intravascular large B-cell lymphoma that presented with recurrent multiple cerebral infarctions and followed an indolent course].
A. Mitsutake, Tadahisa Kanemoto, Youji Suzuki, N. Sakai +1 more
2015Rinshō shinkeigaku Clinical neurology5 citations Open access
Semantic Scholar
Pneumococcal meningitis with vertebral osteomyelitis, iliopsoas abscess, and infected abdominal aortic aneurysm
A. Mitsutake, H. Matsumoto, K. Hatano, Sohei Matsuura +5 more
20184 citations
Semantic Scholar
Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia
A. Mitsutake, T. Matsukawa, Rimi Hino, Go Fujino +6 more
2025Internal medicine3 citations Open access
Semantic Scholar
Bilateral Middle Cerebellar Peduncle Sign in a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy and Coronavirus Disease 2019
A. Mitsutake, Yuto Sakai, Yoko Tsuboyama, Yusuke Baba +5 more
2025Internal medicine3 citations Open access
Semantic Scholar
Tumefactive multiple sclerosis which initially presented with brainstem encephalitis with a long-term follow-up.
A. Mitsutake, Tatsuya Sato, J. Katsumata, F. Nakamoto +5 more
2019Multiple Sclerosis and Related Disorders3 citations
Semantic Scholar
Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy.
Kenta Orimo, T. Matsukawa, A. Mitsutake, Takusei Cho +14 more
2025Journal of Neurological Sciences2 citations Open access
Semantic Scholar
A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis.
A. Mitsutake, T. Matsukawa, K. J. Porto, Tatsuya Sato +9 more
2020Journal of Neurological Sciences2 citations
Semantic Scholar
A case of late‐onset Krabbe disease which showed subacute progression of spastic paresis with bilateral spinal cord lesions
A. Mitsutake, T. Matsukawa, H. Ishiura, J. Mitsui +7 more
2018Neurology and Clinical Neuroscience2 citations
Semantic Scholar
Genotype–phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLC
Natsuko Nakamura, K. Tsunoda, A. Mitsutake, S. Shibata +9 more
2026Journal of Neurology1 citations
Semantic Scholar
Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3.
Kenta Orimo, T. Matsukawa, Kazutaka Shiomi, Ryoji Goto +14 more
2025Journal of Neurological Sciences1 citations Open access
Semantic Scholar
Vanishing White Matter Disease With EIF2B2 c.254T >A Variant
Toshiyuki Kakumoto, T. Matsukawa, Ryo Tokimura, Yoko Tsuboyama +10 more
2025Neurology: Genetics1 citations Open access
Semantic Scholar
Middle cerebral artery dissection in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
A. Mitsutake
2024QJM : monthly journal of the Association of Physicians1 citations Open access
Semantic Scholar
A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability
A. Mitsutake, Mizuho Kawai, Kenta Orimo, T. Matsukawa +7 more
2024Cerebellum1 citations
Semantic Scholar
A central nervous system metastasis of melanoma with stroke‐like onset of left‐lower quadrantanopsia
A. Arakawa, A. Mitsutake, T. Hideyama, Tatsuya Sato +6 more
2020Journal of general and family medicine1 citations Open access
Semantic Scholar
Familial neuronal intranuclear inclusion disease complicated by subcortical hemorrhage
A. Mitsutake, T. Tamai, A. Kamisawa, Yusuke Sugiyama +7 more
2019Neurology and Clinical Neuroscience1 citations
Semantic Scholar
Toxic Epidermal Necrolysis in a Patient with Autoimmune Limbic Encephalitis with Anti-Glutamate Receptor Antibodies
K. Hatano, H. Matsumoto, A. Mitsutake, Junko Yoshimura +4 more
2018Case Reports in Neurology1 citations Open access
Semantic Scholar
Elderly‐onset case of hereditary neuropathy with liability to pressure palsies: A case report
Tatsuya Sato, R. Maekawa, A. Mitsutake, J. Katsumata +3 more
2018Neurology and Clinical Neuroscience1 citations
Semantic Scholar
LRP12 CGG Repeat Expansions in Patients With Adult-Onset Non-5q Spinal Muscular Atrophy
H. Naruse, Jun Mitsui, H. Ishiura, So Okubo +32 more
2026Neurology: Genetics0 citations Open access
Semantic Scholar
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15
A. Mitsutake, T. Matsukawa, Kenta Orimo, Kunihiro Ueda +7 more
2026Neurogenetics0 citations Open access
Semantic Scholar
Two siblings with SOD1-ALS after remission of lung adenocarcinoma
Youji Suzuki, A. Mitsutake
2025Journal of Neurological Sciences0 citations
Semantic Scholar
Erratum: Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings.
Toshiyuki Kakumoto, T. Matsukawa, Ryo Tokimura, Yoko Tsuboyama +10 more
2025Neurology: Genetics0 citations Open access
Semantic Scholar
Reply to the Letter Regarding “Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia”
A. Mitsutake, T. Matsukawa
2025Internal medicine0 citations Open access
Semantic Scholar
First Identification of CGG-Repeat Expansions in LRP12 in Korean Families With Oculopharyngodistal Myopathy Type 1
Kilim Lee, A. Mitsutake, H. Ishiura, Hyung Jun Park
2025Journal of Clinical Neurology0 citations Open access
Semantic Scholar
Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C ‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases
A. Mitsutake, M. Osaki, T. Matsukawa, M. Osako +9 more
2025Annals of Clinical and Translational Neurology0 citations Open access
Semantic Scholar
CGG repeat expansions in NOTCH2NLC in sporadic amyotrophic lateral sclerosis
So Okubo, H. Naruse, M. Matsukawa, Chiharu Yoshida +7 more
2025Journal of Neurological Sciences0 citations
Semantic Scholar
Efficient variant phasing utilizing a replication cycle reaction system
A. Mitsutake, H. Ishiura, T. Matsukawa, Jun Mitsui +2 more
2025Genetics in medicine open0 citations Open access
Semantic Scholar
A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy
A. Mitsutake, T. Matsukawa, Tatsuhiko Naito, H. Ishiura +8 more
2024Internal medicine0 citations Open access
Semantic Scholar
Proximal sensory neuropathy and cerebellar ataxia as presenting symptoms of NOTCH2NLC-related neuronal intranuclear inclusion disease.
K. Funakawa, M. Kurihara, Kensuke Takahashi, M. Higashihara +8 more
2024Journal of Neurological Sciences0 citations Open access
Semantic Scholar
A novel de novo disease‐causing variant in ATL1 in a pediatric patient with spastic paraplegia
Ayumi Nakamura, H. Naruse, A. Mitsutake, Jun Mitsui +5 more
2024Neurology and Clinical Neuroscience0 citations Open access
Semantic Scholar
Rare Co-occurrence of Spinal Cord Hemorrhage from Radiation-induced Cavernous Hemangioma and Classical Hodgkin Lymphoma Post-transplant Lymphoproliferative Disorder
Takahiro Shimizu, Yu Nagashima, T. Matsukawa, A. Mitsutake +9 more
2024Internal medicine0 citations Open access
Semantic Scholar
Hyperdense Vessel Sign in Brain Computed Tomography as an Early Indication of Reversible Cerebral Vasoconstriction Syndrome
A. Mitsutake, T. Mano, Mizuho Kawai, R. Kurokawa +4 more
2024Internal medicine0 citations Open access
Semantic Scholar
Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy
Ryoji Miyano, A. Mitsutake, T. Matsukawa, Satomi Obata +7 more
2024Internal medicine0 citations Open access
Semantic Scholar
CSF p-tau181 increases in patients with neuronal intranuclear inclusion disease without amyloid burden
M. Kurihara, H. Komatsu, R. Sengoku, M. Shibukawa +20 more
2022medRxiv0 citations Open access
Semantic Scholar
Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD
A. Mitsutake, A. Unuma, Mizuho Kawai, Akatsuki Kubota +9 more
2021Neurology and Clinical Neuroscience0 citations
Semantic Scholar
Paracentral homonymous hemianopic scotoma caused by anterior choroidal artery infarction.
A. Mitsutake, Y. Nagashima, H. Mori, H. Sawamura +1 more
2021QJM : monthly journal of the Association of Physicians0 citations Open access
Semantic Scholar
Sjögren syndrome combined with myositis which is pathologically compatible with inclusion body myositis
A. Mitsutake, A. Arakawa, Tatsuya Sato, J. Katsumata +5 more
20200 citations
Semantic Scholar
A case of Parkinson's disease following autoimmune autonomic ganglionopathy
A. Mitsutake, H. Matsumoto, K. Hatano, O. Higuchi +2 more
2019Neurology and Clinical Neuroscience0 citations
Semantic Scholar

Frequent co-authors

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H. Ishiura×29
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H. Ishiura — researcher profile on SciRah
Tatsushi Toda×21
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Tatsushi Toda — researcher profile on SciRah
T. Matsukawa×19
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T. Matsukawa — researcher profile on SciRah
Jun Mitsui×12
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Jun Mitsui — researcher profile on SciRah

×11

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Shoji Tsuji — researcher profile on SciRah

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Y. Shiio — researcher profile on SciRah

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T. Seki — researcher profile on SciRah

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T. Hideyama — researcher profile on SciRah

Tatsuya Sato×9

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Tatsuya Sato — researcher profile on SciRah

J. Katsumata×9

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J. Katsumata — researcher profile on SciRah

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R. Maekawa — researcher profile on SciRah

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J. Shimizu — researcher profile on SciRah