Authorship：Lead author   Language：English  

DOI： 10.1038/s10038-022-01019-y

Scopus

PubMed

researchmap

Authorship：Lead author   Language：English  

DOI： 10.1002/acn3.51555.

researchmap

Authorship：Lead author   Language：English  

DOI： 10.1002/acn3.51603.

researchmap

Authorship：Lead author   Language：English  

DOI： 10.3390/biomedicines10071546.

researchmap

Authorship：Lead author   Language：English  

DOI： 10.3389/fneur.2022.952493.

researchmap

Authorship：Lead author   Language：English  

DOI： 10.1111/jns.12228

PubMed

Authorship：Lead author   Language：English  

DOI： 10.1111/ene.13360

PubMed

Authorship：Lead author   Language：English   Publisher：International Journal of Molecular Sciences  

DNMT1 variants are linked to complex neurodegenerative syndromes, yet their variant-specific functional and epigenomic consequences remain poorly defined. DNMT1 variants were identified in eight patients using gene-panel or whole-exome sequencing. Functional effects were assessed by site-directed mutagenesis and transient expression in HEK293T cells. Genome-wide methylation profiling of peripheral blood leukocyte DNA was performed using Nanopore sequencing, enabling direct quantification of 5-methylcytosine (5mC). CpG island-level differential methylation and gene set enrichment analysis (GSEA) were conducted. Variants in the replication foci targeting sequence (RFTS) domain (p.Y511H, p.Y540C, p.H569R) exhibited reduced DNMT1 protein expression, decreased enzymatic activity, and cytosolic aggregation. Variants in the C-terminal catalytic domain (p.A1334V and p.P1546S) showed reduced protein expression with relatively mild enzymatic impairment. Patients carrying the p.Y511H variant demonstrated a significant reduction in global 5mC levels compared with controls. Principal component analysis revealed distinct methylomic profiles separating most patients from controls, with marked intra- and inter-familial heterogeneity. CpG island-level analysis identified a single significantly hypomethylated region in p.Y511H carriers, and GSEA revealed differential enrichment of multiple Gene Ontology biological pathways. This study defines domain-dependent functional effects of DNMT1 variants and provides the first nanopore-based methylome analysis, revealing variant-specific and heterogeneous epigenomic alterations.

DOI： 10.3390/ijms27031232

Scopus

PubMed

Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND: INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot-Marie-Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2-related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune-mediated disorders such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: We performed a multicenter study investigating 3329 Japanese patients with inherited peripheral neuropathies/CMT who underwent gene panel sequencing or whole-exome analysis between 2007 and 2024. Clinical data, including electrophysiological assessments, were obtained from the patients' medical records. RESULTS: We identified six pathogenic INF2 variants in eight patients, all of which were located within the diaphanous inhibitory domain. Structural modeling revealed clustering of variants near the diaphanous autoregulatory domain-binding pocket, which is critical for INF2 autoinhibition. Clinically, all cases were sporadic, with a median age at neurological onset of 9 years. All patients exhibited lower limb weakness, and 6/8 (75%) had sensory disturbances. All patients also developed kidney dysfunction, with 7/8 (88%) progressing to end-stage renal disease at a median age of 15 years. Furthermore, all patients showed demyelinating neuropathy, and 2/8 (25%) received immunotherapy due to suspected immune-mediated neuropathy. CONCLUSION: Although INF2 variants are a rare cause of CMT in Japan, they should be considered in pediatric patients with demyelinating neuropathy and early-onset proteinuria, even in the absence of a family history. Blood and urine tests assessing renal dysfunction can provide guidance for appropriate genetic testing.

DOI： 10.1002/acn3.70205

Scopus

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)  

Myopathy, lactic acidosis, and sideroblastic anemia type 1 (MLASA1) is an extremely rare mitochondrial disorder caused by biallelic pathogenic variants in PUS1, which encodes a mitochondrial tRNA pseudouridine synthase essential for mitochondrial protein synthesis. We describe two affected siblings presenting with progressive myopathy, lactic acidosis, sideroblastic anemia, short stature, developmental delay, and mild cognitive impairment. Depth-based copy number variation analysis of whole-exome sequencing data revealed a novel homozygous multi-exonic deletion in PUS1. The deletion breakpoints were defined by Sanger sequencing as a 9964 bp deletion spanning part of intron 3 through exons 4-6 and extending into the 3' untranslated region, resulting in complete loss of the C-terminal coding region. Skeletal muscle histology demonstrated ragged red fibers, whereas immunohistochemistry showed a selective and near-complete loss of NDUFB8, indicating impaired assembly of respiratory chain complex I. A systematic review of previously reported MLASA1 cases revealed marked clinical heterogeneity, including frequent developmental delay, dysmorphic features, and multi-organ involvement. These findings expand the genotypic and phenotypic landscape of MLASA1 and highlight the diagnostic value of copy number variation analysis in unresolved mitochondrial disorders. The impairment of complex I underscores the particular vulnerability of translation-dependent respiratory chain components in PUS1-related diseases.

DOI： 10.1038/s10038-025-01437-8

Scopus

PubMed

researchmap

Authorship：Lead author   Language：English  

DOI： 10.1212/NXG.0000000000200318

PubMed

Authorship：Lead author   Language：English  

DOI： 10.1007/s00415-025-13326-3

Scopus

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND: Giant axonal neuropathy 1 (GAN) is a rare neurodegenerative disorder with autosomal recessive inheritance and significant phenotypic heterogeneity, ranging from milder presentations resembling Charcot-Marie-Tooth disease (CMT) to classical presentations involving central and peripheral nervous systems. We investigated the genetic and clinical spectrum of GAN in Japanese patients with inherited peripheral neuropathies (IPNs). METHODS: We conducted genetic screening of 3315 Japanese patients diagnosed with IPNs between 2007 and 2023 using targeted next-generation or whole-exome sequencing. Variant pathogenicity, clinical features, and neurophysiological and neuroimaging findings were reviewed. RESULTS: We identified seven biallelic GAN variants in five patients from four unrelated families, including one homozygous and three compound heterozygous genotypes. Two novel pathogenic variants were identified: c.922G > T (p.Glu308*) and c.456dup (p.Ala153Cysfs*27). Two families exhibited the classical phenotype, whereas the other two exhibited a CMT-like phenotype. Mean onset age was 4.4 years (range 1.5-8), and gait disturbance was the initial symptom. The most common findings included distal weakness (n = 5), sensory impairment (n = 4), scoliosis (n = 3), autonomic dysfunction (n = 2). Neurophysiologically, all patients had sensorimotor axonal polyneuropathy. One patient with mild phenotype maintained a CMT-like state without systemic involvement until the age of 43 years and was still alive at 72, representing the longest documented survival in GAN. CONCLUSION: This study expands the genetic and phenotypic spectrum of GAN by identifying novel variants and a long-term survivor. These findings underscore the importance of systematic genetic screening for GAN in pediatric-onset CMT, even in the absence of classical features.

DOI： 10.1007/s00415-025-13243-5

Scopus

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)  

INTRODUCTION: The clinical, radiological, and pathological features have not been well documented for the recently discovered autosomal-dominant vacuolar tauopathy (VT) harboring the Valosin-containing protein (VCP) p.Asp395Gly variant. METHODS: We investigated the clinical, neuropsychological, physiological, laboratory, and radiological data and neuropathological findings in five symptomatic VT cases who met the diagnostic criteria for frontotemporal dementia (FTD). Radiological data were also collected from two pre-symptomatic carriers. RESULTS: All participants had heterozygous c.1184A > G, p.Asp395Gly in VCP. All symptomatic cases exhibited cognitive, behavioral, and/or language dysfunction indicative of FTD in their 30s to 50s. Neuroimaging studies revealed marked bilateral frontal neurodegeneration and occipital lobar diffusion abnormalities. Post mortem examination of three cases and brain biopsy of one case revealed abundant three- and four-repeat tau deposition and neocortical microvacuolization. Radiological changes were not evident in two pre-symptomatic carriers in their 20s. DISCUSSION: This study reveals distinct clinical-radiological-pathological correlations in VT, expanding the spectrum of early-onset frontotemporal lobar degeneration (FTLD). HIGHLIGHTS: We characterized the clinical, radiological, and pathological features of vacuolar tauopathy (VT). Five VT cases exhibited a behavioral syndrome, often with aphasic features, with marked frontal lobar atrophy and hypometabolism. Magnetic resonance imaging (MRI) of VT cases revealed occipital lobar diffusion abnormalities. Diffuse neurofibrillary tangles (NFTs) and microvacuolization were observed in the neocortex, with an inverse distribution.

DOI： 10.1002/alz.70427

Scopus

PubMed

researchmap

Authorship：Lead author   Language：Japanese   Publisher：日本末梢神経学会  

近年の遺伝子解析技術の進展に伴い,遺伝性神経筋疾患におけるリピート伸長異常の同定が進んでおり,遺伝性ニューロパチーの診断においてもその重要性が高まっている。わが国の遺伝性ニューロパチー3,180症例に対する遺伝子解析では遺伝子診断例の10.9%がLRP12,RFC1,NOTCH2NLCのリピート伸長異常に起因していた。これらのリピート伸長異常はいずれも成人発症で,LRP12では運動神経障害が優位,RFC1では感覚障害が優位,NOTCH2NLCでは中間型の電気生理所見が特徴的である。本稿では,遺伝性ニューロパチーにおけるこれら3遺伝子のリピート伸長異常について概説する。(著者抄録)

Language：English   Publishing type：Research paper (scientific journal)  

The visual evoked potential (VEP) patterns of optic neuritis are known to often differ between multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) but have been less reported in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). This study aimed to characterize the VEP pattern in MOGAD and evaluate its utility in distinguishing MOGAD from MS and NMOSD. We retrospectively reviewed the clinical manifestations and VEP findings in patients with MS (n = 29), NMOSD (n = 14), and MOGAD (n = 10). In eyes with acute visual impairment, VEP responses were detectable in 100 % of eyes with MOGAD, a striking difference from MS (72.7 %) and NMOSD (57.1 %). In addition, VEP abnormalities in eyes without acute visual impairment were rare in MOGAD (23.1 %) compared to MS (55.3 %) and NMOSD (42.9 %). Our results indicated that subclinical VEP abnormalities or undetectable VEP responses were less common in patients with MOGAD compared to patients with MS and NMOSD. VEP testing demonstrates potential diagnostic utility in distinguishing among these conditions.

DOI： 10.1016/j.msard.2025.106408

Scopus

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)  

Heterozygous missense mutations in MORC2 have been implicated in various clinical entities, ranging from early-onset neurodevelopmental disorders to late-onset neuropathies. The mechanism underlying the phenotypic heterogeneity and pleiotropic effects of MORC2 has remained elusive. Here, we analyzed blood and fibroblast DNA methylation, transcriptomes, proteomes, and phenotypes of 53 MORC2 patients. We identified a MORC2-specific DNA methylation episignature that is universal across all MORC2-associated phenotypes and conserved across different tissues. The MORC2 episignature consists mainly of DNA hypermethylation in promoter regions, leading to transcriptional repression of target genes resulting in a MORC2-specific RNA signature. Concomitant downregulation of three disease-associated genes -ERCC8, NDUFAF2, and FKTN- at different levels mirrors the variable biochemical defects and clinical manifestations observed in MORC2 patients. Silencing of NDUFAF2 accounts for the Leigh syndrome manifestation, whereas dysmorphic features are due to the repression of ERCC8. Overall, we showed that pathogenic MORC2 variants cause specific episignature, whereby methylation level variability and its repression impact on target genes explains the pleiotropy and predicts phenotypic heterogeneity in MORC2-related disorders. We predict that epigenetic variation may underlie pleiotropy in other Mendelian disorders.

DOI： 10.1093/brain/awaf159

Scopus

PubMed

researchmap

Language：English   Publishing type：Research paper (scientific journal)  

Identifying the aetiology of CNS diseases, regardless of their infectious or non-infectious nature, is often intricate. Next-generation sequencing (NGS) has emerged as a powerful tool for sensitive and unbiased screening of tissue or body fluid specimens. This study aimed to investigate the underlying aetiology of patients with suspected infectious CNS diseases. Between April 2013 and October 2021, we collected brain tissue samples from 33 patients diagnosed with encephalitis or encephalitis-like CNS diseases, obtained via biopsy or autopsy, and underwent metagenomic NGS (mNGS) in conjunction with pathological evaluations. Moreover, we employed PCR-based assays and pathogen-specific immunostaining to corroborate the presence of pathogens within the tissue samples. Among the 33 patients, mNGS elucidated pathogen-specific genomic sequences in 7 cases (21.2%), including halobacteria (archaea), Balamuthia mandrillaris, Epstein-Barr virus, Toxoplasma gondii and herpes simplex virus. Additionally, brain tissue mNGS ruled out known pathogens, identifying 14 cases (42.4%) of non-infectious CNS diseases, which included neoplastic, autoimmune/inflammatory and amyloid angiopathy conditions. The adjustment of therapeutic strategies based on these findings led to improvements in clinical symptoms, imaging outcomes and patient prognosis. Brain biopsy serves as both a direct pathological research target and a valuable source of samples for unbiased high-throughput sequencing. Our study illustrates the reliability of mNGS on brain tissue, which significantly improves the diagnostic rate for suspected encephalitis or encephalitis-like diseases of unknown aetiology. These findings underscore the importance of mNGS in guiding more precise and effective therapeutic interventions for patients in clinical practice.

DOI： 10.1093/braincomms/fcaf165

Scopus

PubMed

researchmap

Authorship：Lead author   Language：English   Publisher：Clinical Neurophysiology Practice  

Objective: To evaluate the utility of nerve conduction studies as a marker of length-dependent neuropathy. Methods: We conducted a retrospective study of 44 chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients and 365 genetically confirmed Charcot-Marie-Tooth disease (CMT) patients, including those with PMP22 duplications or mutations in GJB1, MFN2, MPZ, and MME. Nerve conduction study parameters were compared, with subgroup analyses of CIDP-mimicking CMT (genetically confirmed CMT with a prior clinical diagnosis of CIDP) and gene-based classifications. Receiver operating characteristic (ROC) analysis assessed the sensitivity and specificity of these parameters. Results: The tibial to ulnar nerve distal compound muscle action potential (T/U CMAP) amplitude ratio was significantly higher in CIDP patients compared to those with genetically confirmed CMT, CIDP-mimicking CMT, and gene-based subgroups. This ratio yielded the highest area under the curve (AUC: 0.95) among all evaluated parameters, with a cutoff value of 0.385 demonstrating high diagnostic sensitivity (95.5%) and specificity (85.5%). In CIDP-mimicking CMT group, a similar sensitivity and specificity were observed. Conclusions: The T/U CMAP amplitude ratio is a simple, robust electrophysiological index of length-dependent neuropathy. Significance: This marker offers a reliable and accessible way to distinguish between acquired and inherited neuropathies, improving diagnostic accuracy and helping prioritize genetic testing.

DOI： 10.1016/j.cnp.2025.10.006

Scopus

PubMed

Language：Japanese   Publisher：Japanese Peripheral Nerve Society  

<p>　Recent advances in genetic analysis technologies have led to significant progress in identifying repeat expansion abnormalities in hereditary neuromuscular diseases. These developments have also increased the importance of repeat expansion analysis in diagnosing hereditary peripheral neuropathies ( IPN ) . In a comprehensive genetic analysis of 3,180 Japanese patients suspected of having IPN, 10.9% of the genetically diagnosed cases were found to be caused by repeat expansions in the LRP12, RFC1 and NOTCH2NLC genes. Each of these repeat expansions is associated with adult-onset symptoms. LRP12-related repeat expansions primarily manifest as motor nerve dysfunction, with most patients presenting muscle weakness and atrophy, while sensory disturbances are relatively rare. In contrast, RFC1 repeat expansions predominantly cause sensory impairments, with most patients displaying sensory neuropathy and minimal muscle weakness. Furthermore, NOTCH2NLC-related expansions are associated with intermediate electrophysiological findings, and about half of the patients also exhibit autonomic nervous system involvement, such as neurogenic bladder. These repeat expansions are critical in refining the diagnosis and understanding of the clinical spectrum of hereditary peripheral neuropathies. This review provides an in-depth overview of the clinical characteristics, electrophysiological findings, and molecular mechanisms of the LRP12, RFC1 and NOTCH2NLC repeat expansions, with a particular focus on their roles in the pathogenesis of hereditary neuropathies.</p>

DOI： 10.69407/jpns.36.1_14

CiNii Research

researchmap

Language：English  

DOI： 10.1186/s40478-024-01847-3

Scopus

PubMed

researchmap

Language：English  

DOI： 10.1007/s10048-024-00746-y

Scopus

PubMed

researchmap

Authorship：Lead author   Language：Japanese   Publisher：Clinical and Experimental Neuroimmunology  

Background: Initially associated with stiff-person syndrome, antibodies to glutamic acid decarboxylase (GAD) antibodies are now recognized as indicators of GAD antibody-spectrum disorders (GAD-SD), which encompass cerebellar ataxia, autoimmune epilepsy and limbic encephalitis. Paraneoplastic neurological syndromes associated with GAD-SD are rare, and optimal timing of surgical intervention and impact on neurological symptoms remain poorly understood. Case Presentation: We present the case of a 65-year-old woman who developed overlapping symptoms of cerebellar ataxia and stiff-person syndrome detected through high-titer GAD antibodies in both serum and cerebrospinal fluid, alongside the presence of a thymoma. Due to severe dysphagia and gait ataxia that rendered her bedridden on admission, surgical intervention was initially deferred. Instead, she received immunotherapies including intravenous methylprednisolone and intravenous immunoglobulin, which remarkably improved neurological symptoms. However, a decline in symptoms occurred on tapering oral prednisolone. Subsequently, a thoracoscopic thymectomy was carried out 27 months after symptom onset, leading to further neurological improvement and successful reduction of prednisolone. Conclusion: In paraneoplastic GAD-SD cases with severe symptoms at presentation, prioritizing immunotherapy and considering surgical intervention once the symptoms have stabilized might be advantageous.

DOI： 10.1111/cen3.12764

Scopus

Authorship：Lead author   Language：English   Publisher：Scientific Reports  

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) has recently been attributed to biallelic repeat expansions in RFC1. More recently, the disease entity has expanded to atypical phenotypes, including chronic neuropathy without cerebellar ataxia or vestibular areflexia. Very recently, RFC1 expansions were found in patients with Sjögren syndrome who had neuropathy that did not respond to immunotherapy. In this study RFC1 was examined in 240 patients with acute or chronic neuropathies, including 105 with Guillain-Barré syndrome or Miller Fisher syndrome, 76 with chronic inflammatory demyelinating polyneuropathy, and 59 with other types of chronic neuropathy. Biallelic RFC1 mutations were found in three patients with immune-mediated neuropathies, including Guillain-Barré syndrome, idiopathic sensory ataxic neuropathy, or anti-myelin-associated glycoprotein (MAG) neuropathy, who responded to immunotherapies. In addition, a patient with chronic sensory autonomic neuropathy had biallelic mutations, and subclinical changes in Schwann cells on nerve biopsy. In summary, we found CANVAS-related RFC1 mutations in patients with treatable immune-mediated neuropathy or demyelinating neuropathy.

DOI： 10.1038/s41598-023-45011-8

Scopus

PubMed

Language：English  

DOI： 10.1038/s41598-023-45011-8.

researchmap

Language：English  

DOI： 10.1007/s00415-023-11998-3

Scopus

PubMed

researchmap

Language：English  

DOI： 10.3389/fneur.2023.1241678.

researchmap

Language：English  

DOI： 10.1111/jns.12590

Language：English  

DOI： 10.3389/fneur.2023.1137958

Scopus

PubMed

researchmap

Language：English  

DOI： 10.1111/jns.12590

Language：English  

DOI： 10.2169/internalm0.2169/internalmedicineedicine

researchmap

Language：Japanese   Publisher：Societas Neurologica Japonica  

<p>A 69-year-old man began to experience difficulty with walking at the age of 5 years and started use of a cane at around 13 years, then finally started using a wheelchair at 17 years old. A diagnosis of Charcot-Marie-Tooth disease was previously determined at another hospital, though neither peripheral nerve biopsy nor gene analysis was conducted. He visited our institution at the age of 54 years and irregular outpatient examinations were started, which indicated slowly progressive muscle weakness and sensory disturbance of the limbs, leading to a decline in activities of daily living. Gene analysis at 60 years old identified a novel homozygous missense mutation in the gigaxonin gene, c.1478A>C, p.E493A. Intellectual capacity was preserved and kinky hair was not present, though complications such as vocal cord paralysis, paralytic ileus, and dysarthria were noted starting at age 61. Based on these findings, the patient was diagnosed with a mild form of giant axonal neuropathy.</p>

DOI： 10.5692/clinicalneurol.cn-001822

Scopus

PubMed

CiNii Research

researchmap

researchmap

Authorship：Lead author   Language：Japanese   Publisher：株式会社医学書院  

DOI： 10.11477/mf.1416202227

PubMed

CiNii Research

Authorship：Lead author   Language：Japanese   Publisher：(株)医学書院  

＜文献概要＞RFC1遺伝子関連スペクトラム障害は小脳性運動失調や感覚ニューロパチー,前庭神経障害を含めた多彩な障害が単独ないし多様な組合せをもって出現し得る疾患である。臨床症状や画像所見から多系統萎縮症との鑑別にも重要な疾患となる。本論では小脳性運動失調症におけるRFC1遺伝子関連スペクトラム障害の頻度や遺伝学的特徴,画像所見について詳述する。

Language：English  

DOI： 10.1056/NEJMoa2204705

researchmap

Authorship：Lead author   Language：Japanese   Publisher：Neurology and Clinical Neuroscience  

Charcot–Marie–Tooth disease type 2Z (CMT2Z) shows highly variable clinical features. We report the first Japanese CMT2Z patient with a c.754C>T (p.R252W) substitution of the MORC2 gene, complicating severe retinitis pigmentosa. The MORC2 mutants were involved in a decrease in cell survival through induction of apoptosis. Thus, the MORC2 mutation might be involved in the degeneration of photoreceptors and the development of retinitis pigmentosa.

DOI： 10.1111/ncn3.12660

Scopus

Authorship：Lead author   Language：Japanese   Publisher：(株)へるす出版  

症例は62歳男性で、入院前日より頭痛が再燃し、両耳の難聴も出現したため当院に救急搬送された。症状および検査所見から細菌性髄膜炎と診断し、急性腎不全を考盧してセフトリアキソン、リネゾリドの点滴静注および4日間のデキサメタゾンの静注を開始した。入院12日目の髄液検査でいったん改善していた細胞数、蛋白が再上昇し、背部痛も悪化、CT画像で脾臓低形成がみられ、腎機能も改善したことから、抗菌薬をメロペネム、バンコマイシンへ変更した。入院16日目の画像では腰椎3/4間に椎間板炎の所見、28日目の画像では腰椎4/5間の椎間関節付近に脊髄硬膜外膿瘍と傍椎体膿瘍がみられた。バンコマイシンの投与が6週間となった入院54日目のところでアモキシシリンの内服に切り替え、変更後も症状の再燃はなく、髄液所見の悪化やMRI画像で膿瘍像の変化がないことを確認し、入院66日目に自宅退院となった。

Language：English  

DOI： 10.1038/s10038-021-01005-w.

researchmap

Authorship：Lead author   Language：English  

DOI： 10.1007/s10072-021-05817-8

Scopus

PubMed

researchmap

Language：English  

DOI： 10.1007/s00415-022-11026-w.

researchmap

Language：English  

DOI： 10.1002/acn3.51715.

researchmap

Language：English  

DOI： 10.3389/fneur.2022.986504.

researchmap

Language：English  

DOI： 10.1007/s00415-022-11305-6.

researchmap

Language：English  

DOI： 10.1111/cge.13881

Scopus

PubMed

researchmap

Language：English  

DOI： 10.1007/s12311-021-01323-x

Scopus

PubMed

researchmap

Language：Japanese  

DOI： 10.5692/clinicalneurol.60.cn-001419

PubMed

Language：English  

DOI： 10.1136/jnnp-2018-318839

PubMed

Language：English  

DOI： 10.1038/s10038-017-0388-5

PubMed

Language：English  

DOI： 10.1186/s12883-018-1131-3

PubMed

Language：English  

DOI： 10.1111/ene.13750

PubMed

Language：English  

DOI： 10.1093/brain/awy104

PubMed

Language：English  

DOI： 10.1111/cge.13037

PubMed

Language：English  

DOI： 10.1111/cge.13002

PubMed

Language：English  

DOI： 10.1038/jhg.2017.15

PubMed

Language：English  

DOI： 10.2169/internalmedicine.53.8922

PubMed