(Q80553315)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15362569%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6 (English)

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spinocerebellar ataxia type 6

1 January 2020

main subject

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14

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1 January 2020

author name string

Hiroki Takahashi

1

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1 January 2020

Kinya Ishikawa

2

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1 January 2020

Takeshi Tsutsumi

3

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1 January 2020

Hiroto Fujigasaki

4

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1 January 2020

Akihiro Kawata

5

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1 January 2020

Ryoichi Okiyama

6

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1 January 2020

Tsuneo Fujita

7

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1 January 2020

Kazuo Yoshizawa

8

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1 January 2020

Shigeki Yamaguchi

9

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1 January 2020

Hitoshi Tomiyasu

10

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1 January 2020

Fumihito Yoshii

11

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1 January 2020

Kazuko Mitani

12

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1 January 2020

Natsue Shimizu

13

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1 January 2020

Tomoyuki Miyamoto

15

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1 January 2020

Tomoyuki Orimo

16

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1 January 2020

Shin'ichi Shoji

17

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1 January 2020

Ken Kitamura

18

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1 January 2020

Hidehiro Mizusawa

19

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1 January 2020

publication date

1 January 2004

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Journal of Human Genetics

1 January 2020

published in

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1 January 2020

volume

49

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1 January 2020

issue

5

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1 January 2020

page(s)

256-264

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https://scigraph.springernature.com/pub.10.1007/s10038-004-0142-7

1 January 2020

exact match

0 references

cites work

Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia

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12 December 2020

Downbeat nystagmus in two siblings with spinocerebellar ataxia type 6 (SCA 6).

1 reference

12 December 2020

Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.

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12 December 2020

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1

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12 December 2020

Ocular motility in genetically defined autosomal dominant cerebellar ataxia

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12 December 2020

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

1 reference

12 December 2020

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients

1 reference

12 December 2020

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia

1 reference

12 December 2020

Experimental gaze palsies in monkeys and their relation to human pathology.

1 reference

12 December 2020

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

1 reference

12 December 2020

Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6)

1 reference

12 December 2020

Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient

1 reference

12 December 2020

Gaze-evoked nystagmus and smooth pursuit deficits: their relationship studied in 52 patients

1 reference

12 December 2020

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)

1 reference

12 December 2020

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

1 reference

12 December 2020

Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6.

1 reference

12 December 2020

Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan

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12 December 2020

A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

1 reference

12 December 2020

Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations

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12 December 2020

Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families

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12 December 2020

Electronystagmographic findings in patients with cerebral degenerative disease.

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12 December 2020

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

1 reference

12 December 2020

Downbeating nystagmus. A review of 62 cases

1 reference

12 December 2020

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

1 reference

12 December 2020

Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia

1 reference

12 December 2020

A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

1 reference

12 December 2020

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1

1 reference

12 December 2020

Visual Suppression of Vestibular Nystagmus after Cerebellar Lesions

1 reference

12 December 2020

A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene

1 reference

12 December 2020

Effects of ablation of flocculus and paraflocculus of eye movements in primate

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12 December 2020

Comparison of oculomotor findings in the progressive ataxia syndromes.

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12 December 2020

Clinical and molecular features of spinocerebellar ataxia type 6

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12 December 2020

Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

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12 December 2020

Oculomotor phenotypes in autosomal dominant ataxias.

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12 December 2020

Oculomotor abnormalities and MRI findings in idiopathic cerebellar ataxia.

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12 December 2020

Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3

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12 December 2020

Positional down beating nystagmus in 50 patients: cerebellar disorders and possible anterior semicircular canalithiasis

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12 December 2020

Clinical significance of rebound nystagmus

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12 December 2020

Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan

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12 December 2020

A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan

1 reference

12 December 2020

Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6

1 reference

12 December 2020

Hyperactive vestibulo-ocular reflex in cerebellar degeneration: pathogenesis and treatment

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12 December 2020

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

1 reference

12 December 2020

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

1 reference

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Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

1 reference

12 December 2020

10.1007/S10038-004-0142-7

Identifiers

DOI

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1 January 2020

1 reference