Literature DB >> 8421960

Clinical features and classification of inherited ataxias.

A E Harding1.   

Abstract

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Mesh：

Year:  1993        PMID： 8421960

Source DB:  PubMed          Journal:  Adv Neurol        ISSN： 0091-3952


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  72 in total

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

Authors:  P F Worth; P Giunti; C Gardner-Thorpe; P H Dixon; M B Davis; N W Wood
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.

Authors:  Elsa Nicolas; Yannick Poitelon; Eliane Chouery; Nabiha Salem; Nicolas Levy; André Mégarbané; Valérie Delague
Journal:  Eur J Hum Genet       Date:  2010-06-09       Impact factor: 4.246

3.  Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families.

Authors:  A Lezin; G Cancel; G Stevanin; D Smadja; J C Vernant; A Dürr; J Martial; G G Buisson; R Bellance; H Chneiweiss; Y Agid; A Brice
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

4.  Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.

Authors:  Yusaku Shimizu; Kunihiro Yoshida; Tomomi Okano; Shinji Ohara; Takao Hashimoto; Yoshimitsu Fukushima; Shu-Ichi Ikeda
Journal:  J Hum Genet       Date:  2004-10-08       Impact factor: 3.172

5.  Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.

Authors:  Bernardo Machado Dias Domingues; Fábio A Nascimento; Alex Tiburtino Meira; Adriana Moro; Salmo Raskin; Tetsuo Ashizawa; Hélio Afonso Ghizoni Teive
Journal:  Cerebellum       Date:  2019-10       Impact factor: 3.847

6.  Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han.

Authors:  Jun-Ling Wang; Hong Jiang; Shen Zhang; Qian Xu; Ya-Fang Zhou; Shu-Sheng Liao; Lu Shen; Xin-Xiang Yan; Huai-Xu Zhu; Qian Pan; Kun Xia; Bei-Sha Tang
Journal:  J Genet       Date:  2008-12       Impact factor: 1.166

7.  Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

Authors:  Eleonora Di Gregorio; Laura Orsi; Massimiliano Godani; Giovanna Vaula; Stella Jensen; Eric Salmon; Giancarlo Ferrari; Stefania Squadrone; Maria Cesarina Abete; Claudia Cagnoli; Alessandro Brussino; Alfredo Brusco
Journal:  Cerebellum       Date:  2010-03       Impact factor: 3.847

8.  Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.

Authors:  Kunihiro Yoshida; Yusaku Shimizu; Hiroshi Morita; Tomomi Okano; Haruya Sakai; Takako Ohata; Naomichi Matsumoto; Katsuya Nakamura; Ko-ichi Tazawa; Shinji Ohara; Kenichi Tabata; Atsushi Inoue; Shunichi Sato; Yasuhiro Shimojima; Takeshi Hattori; Masao Ushiyama; Shu-ichi Ikeda
Journal:  Cerebellum       Date:  2009-03       Impact factor: 3.847

9.  Clinical and genetic evaluation of Japanese autosomal dominant cerebellar ataxias; is Machado-Joseph disease common in the Japanese?

Authors:  K Inoue; T Hanihara; Y Yamada; K Kosaka; T Katsuragi; K Iwabuchi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-06       Impact factor: 10.154

Review 10.  Small molecules affecting transcription in Friedreich ataxia.

Authors:  Joel M Gottesfeld
Journal:  Pharmacol Ther       Date:  2007-08-09       Impact factor: 12.310
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