| Paraneoplastic anti–N‐methyl‐D‐aspartate receptor encephalitis associated with ovarian teratoma J Dalmau, E Tüzün, H Wu, J Masjuan, JE Rossi, A Voloschin, ... Annals of neurology 61 (1), 25-36, 2007 | 3186 | 2007 |
| The gene for Machado–Joseph disease maps to human chromosome 14q Y Takiyama, M Nishizawa, H Tanaka, S Kawashima, H Sakamoto, ... Nature genetics 4 (3), 300-304, 1993 | 480 | 1993 |
| Physiological properties of projection neurons in the monkey striatum to the globus pallidus M Kimura, M Kato, H Shimazaki Experimental Brain Research 82, 672-676, 1990 | 135 | 1990 |
| Identification of GFAP gene mutation in hereditary adult‐onset Alexander's disease M Namekawa, Y Takiyama, Y Aoki, N Takayashiki, K Sakoe, H Shimazaki, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 125 | 2002 |
| Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations H Shimazaki, Y Takiyama, K Sakoe, K Ikeguchi, K Niijima, J Kaneko, ... Neurology 59 (4), 590-595, 2002 | 105 | 2002 |
| Identification of a SACS gene missense mutation in ARSACS T Ogawa, Y Takiyama, K Sakoe, K Mori, M Namekawa, H Shimazaki, ... Neurology 62 (1), 107-109, 2004 | 92 | 2004 |
| A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55) H Shimazaki, Y Takiyama, H Ishiura, C Sakai, Y Matsushima, ... Journal of medical genetics 49 (12), 777-784, 2012 | 90 | 2012 |
| Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon Y Ouyang, Y Takiyama, K Sakoe, H Shimazaki, T Ogawa, S Nagano, ... Neurology 66 (7), 1103-1104, 2006 | 70 | 2006 |
| A phenotype without spasticity in sacsin-related ataxia H Shimazaki, Y Takiyama, K Sakoe, Y Ando, I Nakano Neurology 64 (12), 2129-2131, 2005 | 70 | 2005 |
| Adult-onset Alexander disease with typical" tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature M Namekawa, Y Takiyama, J Honda, H Shimazaki, K Sakoe, I Nakano BMC neurology 10, 1-6, 2010 | 66 | 2010 |
| Reversible limbic encephalitis with antibodies against the membranes of neurones of the hippocampus H Shimazaki, Y Ando, I Nakano, J Dalmau Journal of Neurology, Neurosurgery & Psychiatry 78 (3), 324-325, 2007 | 62 | 2007 |
| Novel SACS mutation in a Belgian family with sacsin-related ataxia Y Ouyang, K Segers, O Bouquiaux, FC Wang, N Janin, C Andris, ... Journal of the neurological sciences 264 (1-2), 73-76, 2008 | 51 | 2008 |
| An unusual case of a spasticity-lacking phenotype with a novel SACS mutation H Shimazaki, K Sakoe, K Niijima, I Nakano, Y Takiyama Journal of the neurological sciences 255 (1-2), 87-89, 2007 | 50 | 2007 |
| 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study Y Ouyang, K Sakoe, H Shimazaki, M Namekawa, T Ogawa, Y Ando, ... Journal of the neurological sciences 247 (2), 180-186, 2006 | 47 | 2006 |
| VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia K Koh, H Ishiura, H Shimazaki, M Tsutsumiuchi, Y Ichinose, H Nan, ... Molecular Genetics & Genomic Medicine 8 (3), e1108, 2020 | 41 | 2020 |
| Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation H Shimazaki, J Honda, T Naoi, M Namekawa, I Nakano, M Yazaki, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (9), 1024-1028, 2014 | 41 | 2014 |
| Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS H Shimazaki, Y Takiyama, J Honda, K Sakoe, M Namekawa, J Tsugawa, ... Journal of Neuroimaging 23 (1), 82-85, 2013 | 32 | 2013 |
| Novel compound heterozygous mutations in sacsin-related ataxia Y Yamamoto, K Hiraoka, M Araki, S Nagano, H Shimazaki, Y Takiyama, ... Journal of the neurological sciences 239 (1), 101-104, 2005 | 31 | 2005 |
| Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families H Shimazaki, Y Takiyama, K Sakoe, M Amaike, H Nagaki, M Namekawa, ... Journal of the neurological sciences 185 (2), 101-107, 2001 | 30 | 2001 |
| A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study M Namekawa, Y Takiyama, K Sakoe, H Shimazaki, M Amaike, K Niijima, ... Journal of the neurological sciences 185 (1), 63-68, 2001 | 30 | 2001 |
