Literature DB >> 21869492

Genotyping and prenatal diagnosis of a large spinocerebellar ataxia pedigree in northeastern China.

Dong-Hua Cao1, Xiao-Li Liu, Guang-Bin Qiu.   

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Year:  2011        PMID: 21869492     DOI: 10.1007/s12041-011-0090-x

Source DB:  PubMed          Journal:  J Genet        ISSN: 0022-1333            Impact factor:   1.166


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  17 in total

1.  Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology.

Authors:  C A Gutekunst; S H Li; H Yi; J S Mulroy; S Kuemmerle; R Jones; D Rye; R J Ferrante; S M Hersch; X J Li
Journal:  J Neurosci       Date:  1999-04-01       Impact factor: 6.167

2.  Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation.

Authors:  Q Saleem; S Choudhry; M Mukerji; L Bashyam; M V Padma; A Chakravarthy; M C Maheshwari; S Jain; S K Brahmachari
Journal:  Hum Genet       Date:  2000-02       Impact factor: 4.132

3.  Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

Authors:  B P C van de Warrenburg; R J Sinke; C C Verschuuren-Bemelmans; H Scheffer; E R Brunt; P F Ippel; J A Maat-Kievit; D Dooijes; N C Notermans; D Lindhout; N V A M Knoers; H P H Kremer
Journal:  Neurology       Date:  2002-03-12       Impact factor: 9.910

4.  Classification of the hereditary ataxias and paraplegias.

Authors:  A E Harding
Journal:  Lancet       Date:  1983-05-21       Impact factor: 79.321

5.  Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

Authors:  I Silveira; C Miranda; L Guimarães; M-C Moreira; I Alonso; P Mendonça; A Ferro; J Pinto-Basto; J Coelho; F Ferreirinha; J Poirier; E Parreira; J Vale; C Januário; C Barbot; A Tuna; J Barros; R Koide; S Tsuji; S E Holmes; R L Margolis; L Jardim; M Pandolfo; P Coutinho; J Sequeiros
Journal:  Arch Neurol       Date:  2002-04

6.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

Authors:  Y Kawaguchi; T Okamoto; M Taniwaki; M Aizawa; M Inoue; S Katayama; H Kawakami; S Nakamura; M Nishimura; I Akiguchi
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

7.  A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q.

Authors:  Y Takiyama; S Oyanagi; S Kawashima; H Sakamoto; K Saito; M Yoshida; S Tsuji; Y Mizuno; M Nishizawa
Journal:  Neurology       Date:  1994-07       Impact factor: 9.910

8.  Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

Authors:  Alfredo Brusco; Cinzia Gellera; Claudia Cagnoli; Alessandro Saluto; Alessia Castucci; Chiara Michielotto; Vincenza Fetoni; Caterina Mariotti; Nicola Migone; Stefano Di Donato; Franco Taroni
Journal:  Arch Neurol       Date:  2004-05

Review 9.  Pathways to motor incoordination: the inherited ataxias.

Authors:  Franco Taroni; Stefano DiDonato
Journal:  Nat Rev Neurosci       Date:  2004-08       Impact factor: 34.870

10.  The hereditary adult-onset ataxias in South Africa.

Authors:  Alan Bryer; Amanda Krause; Pierre Bill; Virginia Davids; Daphne Bryant; James Butler; Jeannine Heckmann; Rajkumar Ramesar; Jacquie Greenberg
Journal:  J Neurol Sci       Date:  2003-12-15       Impact factor: 3.181

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