Tsuji, Shoji

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

Sidransky, E., Nalls, M. A., Aasly, J. O., Aharon-Peretz, J., Annesi, G., Barbosa, E. R., Bar-Shira, A., Berg, D., Bras, J., Brice, A., et al. (2009) · New England Journal of Medicine

Lysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and Treatments

Cited by 2,135

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 1,210

α-Synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy

Wakabayashi, K., Yoshimoto, M., Tsuji, S., & Takahashi, H. (1998) · Neuroscience Letters

Parkinson's Disease Mechanisms and TreatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 643

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

Hara, K., Shiga, A., Fukutake, T., Nozaki, H., Miyashita, A., Yokoseki, A., Kawata, H., Koyama, A., Arima, K., Takahashi, T., et al. (2009) · New England Journal of Medicine

Cerebrovascular and genetic disordersNeurological Disease Mechanisms and Treatments

Cited by 460

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T., Takahashi, M., Matsuura, T., Flanigan, K. M., Iwasaki, S., et al. (2009) · The American Journal of Human Genetics

Genetic Neurodegenerative DiseasesGlycogen Storage Diseases and Myoclonus

Cited by 302

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Montenegro, G., Rebelo, A. P., Connell, J., Allison, R., Babalini, C., D’Aloia, M., Montieri, P., Schüle, R., Ishiura, H., Price, J., et al. (2012) · Journal of Clinical Investigation

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 170

BIN1 regulates BACE1 intracellular trafficking and amyloid-β production

Miyagawa, T., Ebinuma, I., Morohashi, Y., Hori, Y., Young Chang, M., Hattori, H., Maehara, T., Yokoshima, S., Fukuyama, T., Tsuji, S., et al. (2016) · Human Molecular Genetics

Alzheimer's disease research and treatmentsCellular transport and secretion

Cited by 95

Aβ1–40 but not Aβ1–42 levels in cortex correlate with apolipoprotein E ϵ4 allele dosage in sporadic Alzheimer's disease

Ishii, K., Tamaoka, A., Mizusawa, H., Shoji, S.-I., Ohtake, T., Fraser, P. E., Takahashi, H., Tsuji, S., Gearing, M., Mizutani, T., et al. (1997) · Brain Research

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 85

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34

Ozaki, K., Doi, H., Mitsui, J., Sato, N., Iikuni, Y., Majima, T., Yamane, K., Irioka, T., Ishiura, H., Doi, K., et al. (2015) · JAMA Neurology

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 81

Increased Synthesis of Hexacosanoic Acid (C26 :0) by Cultured Skin Fibroblasts from Patients with Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN)1

TSUJI, S., SANO, T., ARIGA, T., & MIYATAKE, T. (1981) · The Journal of Biochemistry

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 73

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes

Matsukawa, T., Asheuer, M., Takahashi, Y., Goto, J., Suzuki, Y., Shimozawa, N., Takano, H., Onodera, O., Nishizawa, M., Aubourg, P., et al. (2011) · neurogenetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 36