| Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy H Takashima, CF Boerkoel, J John, GM Saifi, MAM Salih, D Armstrong, ... Nature genetics 32 (2), 267-272, 2002 | 583 | 2002 |
| Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease J Sone, S Mitsuhashi, A Fujita, T Mizuguchi, K Hamanaka, K Mori, H Koike, ... Nature genetics 51 (8), 1215-1221, 2019 | 410 | 2019 |
| Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia CF Boerkoel, H Takashima, J John, J Yan, P Stankiewicz, L Rosenbarker, ... Nature genetics 30 (2), 215-220, 2002 | 385 | 2002 |
| Autoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors T Ohkawa, Y Fukata, M Yamasaki, T Miyazaki, N Yokoi, H Takashima, ... Journal of Neuroscience 33 (46), 18161-18174, 2013 | 374 | 2013 |
| Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease A Jordanova, P De Jonghe, CF Boerkoel, H Takashima, E De Vriendt, ... Brain 126 (3), 590-597, 2003 | 365 | 2003 |
| Charcot‐Marie‐Tooth disease and related neuropathies: mutation distribution and genotype‐phenotype correlation CF Boerkoel, H Takashima, CA Garcia, RK Olney, J Johnson, K Berry, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 341 | 2002 |
| Clinicopathological features of adult-onset neuronal intranuclear inclusion disease J Sone, K Mori, T Inagaki, R Katsumata, S Takagi, S Yokoi, K Araki, T Kato, ... Brain 139 (12), 3170-3186, 2016 | 331 | 2016 |
| Periaxin mutations cause recessive Dejerine-Sottas neuropathy CF Boerkoel, H Takashima, P Stankiewicz, CA Garcia, SM Leber, ... The American Journal of Human Genetics 68 (2), 325-333, 2001 | 271 | 2001 |
| IEDM Tech. Dig. CT Liu Dig 1996, 499-503, 1986 | 228 | 1986 |
| Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? R Hirano, H Interthal, C Huang, T Nakamura, K Deguchi, K Choi, ... The EMBO journal 26 (22), 4732-4743, 2007 | 173 | 2007 |
| Early detection of abnormal prion protein in genetic human prion diseases now possible using real-time QUIC assay K Sano, K Satoh, R Atarashi, H Takashima, Y Iwasaki, M Yoshida, ... PloS one 8 (1), e54915, 2013 | 167 | 2013 |
| Identification and characterization of GABAA receptor autoantibodies in autoimmune encephalitis T Ohkawa, SI Satake, N Yokoi, Y Miyazaki, T Ohshita, G Sobue, ... Journal of Neuroscience 34 (24), 8151-8163, 2014 | 149 | 2014 |
| Periaxin mutations cause a broad spectrum of demyelinating neuropathies H Takashima, CF Boerkoel, P De Jonghe, C Ceuterick, JJ Martin, T Voit, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 128 | 2002 |
| Variants associated with Gaucher disease in multiple system atrophy J Mitsui, T Matsukawa, H Sasaki, I Yabe, M Matsushima, A Dürr, A Brice, ... Annals of clinical and translational neurology 2 (4), 417-426, 2015 | 127 | 2015 |
| Dual antiplatelet therapy for 6 versus 18 months after biodegradable polymer drug-eluting stent implantation M Nakamura, R Iijima, J Ako, T Shinke, H Okada, Y Ito, K Ando, H Anzai, ... Cardiovascular Interventions 10 (12), 1189-1198, 2017 | 112 | 2017 |
| Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2 Y Higuchi, A Hashiguchi, J Yuan, A Yoshimura, J Mitsui, H Ishiura, ... Annals of neurology 79 (4), 659-672, 2016 | 109 | 2016 |
| Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13–15 Y Shibasaki, H Tanaka, K Iwabuchi, S Kawasaki, H Kondo, K Uekawa, ... Annals of neurology 48 (1), 108-112, 2000 | 106 | 2000 |
| Association of AKT1 haplotype with the risk of schizophrenia in Iranian population SN Bajestan, AH Sabouri, M Nakamura, H Takashima, MR Keikhaee, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141 …, 2006 | 102 | 2006 |
| Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease Y Noto, K Shiga, Y Tsuji, I Mizuta, Y Higuchi, A Hashiguchi, H Takashima, ... Journal of Neurology, Neurosurgery & Psychiatry 86 (4), 378-384, 2015 | 101 | 2015 |
| A new type of hereditary motor and sensory neuropathy linked to chromosome 3 H Takashima, M Nakagawa, K Nakahara, M Suehara, T Matsuzaki, ... Annals of neurology 41 (6), 771-780, 1997 | 101 | 1997 |
Cornelius BoerkoelUniversity of British Columbia在 cfri.ca 的电子邮件经过验证
