Literature DB >> 7824096

Autosomal dominant cerebellar phenotypes: the genotype has settled the issue.

R N Rosenberg.   

Abstract

Mesh：

Year:  1995        PMID： 7824096     DOI： 10.1212/wnl.45.1.1

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  19 in total

1.  Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia.

Authors:  V Pietrini; M Godani; S Calzetti; A Negrotti; B Castellotti; M C Riggio; C Toffoli
Journal:  Ital J Neurol Sci       Date:  1998-12

2.  Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR.

Authors:  H Maruyama; H Kawakami; S Nakamura
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

3.  Occipital seizures imitating migraine aura.

Authors:  C P Panayiotopoulos; I A Sharoqi; A Agathonikou
Journal:  J R Soc Med       Date:  1997-05       Impact factor: 5.344

4.  Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

Authors:  G Stevanin; G Cancel; O Didierjean; A Dürr; N Abbas; E Cassa; J Feingold; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

5.  Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

Authors:  D H Geschwind; M Loginov; J M Stern
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

6.  Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

Authors:  Dong-Hui Chen; Zoran Brkanac; Christophe L M J Verlinde; Xiao-Jian Tan; Laura Bylenok; David Nochlin; Mark Matsushita; Hillary Lipe; John Wolff; Magali Fernandez; P J Cimino; Thomas D Bird; Wendy H Raskind
Journal:  Am J Hum Genet       Date:  2003-03-17       Impact factor: 11.025

7.  Prenatal diagnosis of Machado-Joseph disease/Spinocerebellar Ataxia Type 3 in Taiwan: early detection of expanded ataxin-3.

Authors:  Hui-Fang Tsai; Chin-San Liu; Gin-Den Chen; Mei-Ling Lin; Chuan Li; Yi-Yun Chen; Bao-Tyan Wang; Mingli Hsieh
Journal:  J Clin Lab Anal       Date:  2003       Impact factor: 2.352

Review 8.  Neurogenetic diseases: molecular diagnosis and therapeutic approaches.

Authors:  U Muller; M B Graeber
Journal:  J Mol Med (Berl)       Date:  1996-02       Impact factor: 4.599

9.  Spinocerebellar ataxia type 1 in Russia.

Authors:  S N Illarioshkin; P A Slominsky; I V Ovchinnikov; E D Markova; N I Miklina; S A Klyushnikov; M Shadrina; N V Vereshchagin; S A Limborskaya; I A Ivanova-Smolenskaya
Journal:  J Neurol       Date:  1996-07       Impact factor: 4.849

10.  The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice.

Authors:  Corinna Lappe-Siefke; Sven Loebrich; Wulf Hevers; Oliver B Waidmann; Michaela Schweizer; Susanne Fehr; Jean-Marc Fritschy; Ivan Dikic; Jens Eilers; Scott M Wilson; Matthias Kneussel
Journal:  PLoS Genet       Date:  2009-09-04       Impact factor: 5.917
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