Literature DB >> 22335741

The autosomal recessive cerebellar ataxias.

Mathieu Anheim1, Christine Tranchant, Michel Koenig.   

Abstract

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Year:  2012        PMID： 22335741     DOI： 10.1056/NEJMra1006610

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  108 in total

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

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Journal:  Cerebellum       Date:  2020-04       Impact factor: 3.847

Review 3.  Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice.

Authors:  W Ilg; M Branscheidt; A Butala; P Celnik; L de Paola; F B Horak; L Schöls; H A G Teive; A P Vogel; D S Zee; D Timmann
Journal:  Cerebellum       Date:  2018-10       Impact factor: 3.847

4.  Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.

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Journal:  J Neurol       Date:  2013-11-01       Impact factor: 4.849

5.  Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset.

Authors:  Chloé Laurencin; Mathieu Anheim; Lise Larrieu; Caroline Tilikete; Michel Koenig; Stéphane Thobois
Journal:  J Neurol       Date:  2015-04-07       Impact factor: 4.849

Review 6.  Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.

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Journal:  J Neurol       Date:  2015-04-11       Impact factor: 4.849

7.  Recessive spinocerebellar ataxia with paroxysmal cough attacks: a report of five cases.

Authors:  Luis Velázquez-Pérez; Rigoberto González-Piña; Roberto Rodríguez-Labrada; Raul Aguilera-Rodríguez; Lourdes Galicia-Polo; Yaimeé Vázquez-Mojena; Ana M Cortés-Rubio; Marla R Trujillo-Bracamontes; Cesar M Cerecedo-Zapata; Oscar Hernández-Hernández; Bulmaro Cisneros; Jonathan J Magaña
Journal:  Cerebellum       Date:  2014-04       Impact factor: 3.847

8.  Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.

Authors:  Célia Nogueira; José Barros; Maria José Sá; Luísa Azevedo; Ricardo Taipa; Alessandra Torraco; Maria Chiara Meschini; Daniela Verrigni; Claudia Nesti; Teresa Rizza; João Teixeira; Rosalba Carrozzo; Manuel Melo Pires; Laura Vilarinho; Filippo M Santorelli
Journal:  Neurogenetics       Date:  2013-03-28       Impact factor: 2.660

Review 9.  Role of Genetic Mutations of the Na+/H+ Exchanger Isoform 1, in Human Disease and Protein Targeting and Activity.

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Journal:  Mol Cell Biochem       Date:  2020-11-17       Impact factor: 3.396

Review 10.  Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective.

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Journal:  Hum Genet       Date:  2013-03-23       Impact factor: 4.132
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