Literature DB >> 8220431

Anticipation in spinocerebellar ataxia type 2.

S M Pulst, A Nechiporuk, S Starkman.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8220431     DOI： 10.1038/ng0993-8c

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  17 in total

Review 1.  The complex clinical and genetic classification of inherited ataxias. I. Dominant ataxias.

Authors:  S Di Donato
Journal:  Ital J Neurol Sci       Date:  1998-12

2.  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

Review 3.  New pathologic mechanisms in nucleotide repeat expansion disorders.

Authors:  C M Rodriguez; P K Todd
Journal:  Neurobiol Dis       Date:  2019-06-21       Impact factor: 5.996

4.  Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.

Authors:  Luis Velázquez-Pérez; Jacqueline Medrano-Montero; Roberto Rodríguez-Labrada; Nalia Canales-Ochoa; Jandy Campins Alí; Frank J Carrillo Rodes; Tania Rodríguez Graña; María O Hernández Oliver; Raul Aguilera Rodríguez; Yennis Domínguez Barrios; Reydenis Torres Vega; Lissi Flores Angulo; Noharis Y Cordero Navarro; Aldo A Sigler Villanueva; Osiel Gámez Rodríguez; Ilya Sagaró Zambrano; Nayime Y Navas Napóles; Javier García Zacarías; Orlando R Serrano Barrera; María B Ramírez Bautista; Annelié Estupiñán Rodríguez; Leonardo A Guerra Rondón; Yaimeé Vázquez-Mojena; Yanetza González-Zaldivar; Luis E Almaguer Mederos; Alejandro Leyva-Mérida
Journal:  Cerebellum       Date:  2020-04       Impact factor: 3.847

5.  The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.

Authors:  D H Geschwind; S Perlman; C P Figueroa; L J Treiman; S M Pulst
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

6.  Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.

Authors:  I Lopes-Cendes; E Andermann; E Attig; F Cendes; S Bosch; M Wagner; F Gerstenbrand; F Andermann; G A Rouleau
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

7.  Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy.

Authors:  Alice Abdel-Aleem; Maha S Zaki
Journal:  J Neurol       Date:  2008-02-26       Impact factor: 4.849

8.  Identification of three new microsatellite markers in the spinocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map.

Authors:  T Nechiporuk; A Nechiporuk; X Guan; R Frederick; K Figueroa; I Chumakov; J R Korenberg; P J de Jong; S M Pulst
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

9.  Localization of the candidate gene D-amino acid oxidase outside the refined I-cM region of spinocerebellar ataxia 2.

Authors:  S Gispert; A Lunkes; N Santos; G Orozco; D Ha-Hao; T Ratzlaff; J Aguiar; I Torrens; L Heredero; A Brice
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

10.  The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

Authors:  G Stevanin; G Cancel; A Dürr; H Chneiweiss; O Dubourg; J Weissenbach; H M Cann; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.