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2001 1
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2005 1
2008 1
2024 0

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Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.
Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, Tsuruta K, Arisato T, Arata H, Nakagawa M, Osame M, Arimura K. Hirano R, et al. Neurogenetics. 2004 Dec;5(4):215-21. doi: 10.1007/s10048-004-0194-z. Epub 2004 Sep 29. Neurogenetics. 2004. PMID: 15455264
We report four Japanese families with pure cerebellar ataxia and a disease locus at 16q22.1. Our families yielded a peak lod score of 6.01 at marker D16S3141. To refine the candidate region, we carried out genetic linkage studies in four pedigrees with a high density set o …
We report four Japanese families with pure cerebellar ataxia and a disease locus at 16q22.1. Our families yielded a peak lod score of …
Degree of cerebellar ataxia correlates with three-dimensional mri-based cerebellar volume in pure cerebellar degeneration.
Richter S, Dimitrova A, Maschke M, Gizewski E, Beck A, Aurich V, Timmann D. Richter S, et al. Eur Neurol. 2005;54(1):23-7. doi: 10.1159/000087241. Epub 2005 Jul 26. Eur Neurol. 2005. PMID: 16088175
Seven patients suffered from spinocerebellar ataxia type 6, 5 from idiopathic late-onset cerebellar ataxia, 2 from autosomal dominant cerebellar ataxia type III and 1 from episodic ataxia type 2. Volumetric analysis was based on individua …
Seven patients suffered from spinocerebellar ataxia type 6, 5 from idiopathic late-onset cerebellar ataxia, 2 from autosomal domin …
A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan.
Takashima M, Ishikawa K, Nagaoka U, Shoji S, Mizusawa H. Takashima M, et al. J Hum Genet. 2001;46(4):167-71. doi: 10.1007/s100380170083. J Hum Genet. 2001. PMID: 11322654
These results indicate that the disease could have originated from a common ancestor harboring a mutation within a less than 3-cM region between D16S3043 and D16S3095. The founder alleles were also observed in other patients with ADCA type III unrelated to the six families …
These results indicate that the disease could have originated from a common ancestor harboring a mutation within a less than 3-cM region bet …
Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals.
Gerwig M, Esser AC, Guberina H, Frings M, Kolb FP, Forsting M, Aurich V, Beck A, Timmann D. Gerwig M, et al. Exp Brain Res. 2008 May;187(1):85-96. doi: 10.1007/s00221-008-1283-2. Epub 2008 Feb 6. Exp Brain Res. 2008. PMID: 18253726
To elucidate whether the cerebellar cortex may contribute to trace eyeblink conditioning in humans, eight patients with degenerative cerebellar disorders (four with sporadic adult onset ataxia, three with autosomal dominant cerebellar ataxia type …
To elucidate whether the cerebellar cortex may contribute to trace eyeblink conditioning in humans, eight patients with degenerative cerebel …