Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias-Reference-Cited by-同舟云学术

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

Published:2016-09-02 Issue:12 Volume:37 Page:1340-1353
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Marelli Cecilia¹,Guissart Claire²,Hubsch Cecile³,Renaud Mathilde⁴,Villemin Jean-Philippe²,Larrieu Lise²,Charles Perrine⁵,Ayrignac Xavier¹,Sacconi Sabrina⁶,Collignon Patrick⁷,Cuntz-Shadfar Danielle¹⁸,Perrin Laurine⁹,Benarrosh Anelia¹⁰,Degardin Adrian¹¹,Lagha-Boukbiza Ouhaïd⁴,Mutez Eugenie¹²,Carlander Bertrand¹,Morales Raul Juntas¹,Gonzalez Victoria¹,Carra-Dalliere Clarisse¹,Azakri Souhayla¹,Mignard Claude¹³,Ollagnon Elisabeth¹⁴,Pageot Nicolas¹,Chretien Dominique¹⁵,Geny Christian¹,Azulay Jean-Philippe¹⁶,Tranchant Christine⁴,Claustres Mireille²,Labauge Pierre¹,Anheim Mathieu⁴,Goizet Cyril¹⁷,Calvas Patrick¹⁸,Koenig Michel²

Affiliation:

1. Department of Neurology; University Hospital Gui de Chauliac; Montpellier France

2. EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, University Hospital; Montpellier France

3. Department of Neurology; Pitié-Salpêtrière University Hospital; Paris France

4. Department of Neurology; Strasbourg University Hospital; Strasbourg France

5. Department of Genetics; Pitié-Salpêtrière University Hospital; Paris France

6. Peripheral Nervous System, Muscle and ALS, Neuromuscular & ALS Specialized Center; Nice University Hospital, Pasteur 2; Nice France

7. Department of Medical Genetics; Sainte Musse Hospital; Toulon France

8. Department of Paediatrics; University Hospital Gui de Chauliac; Montpellier France

9. Department of Physical Medicine and Rehabilitation and Department of Paediatric Neurology; CHU de Saint Etienne France

10. Department of Neurology; Sainte Musse Hospital; Toulon France

11. Department of Neurology; University Hospital Roger Salengro; Lille France

12. CHU Lille, UMR-S 1172 - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer; University of Lille, Inserm; Lille France

13. Centre de Référence des Maladies Neuro-musculaires et Neurologiques Rares du CHU de la Réunion; France

14. Department of Medical Genetics and Reference Centre for Neurological and Neuromuscular Diseases; Croix-Rousse Hospital; Lyon France

15. INSERM UMR 1141 Robert Debré Hospital and Denis Diderot University Paris 7; Paris France

16. Department of Neurology; La Timone University Hospital; Marseille France

17. Department of Medical Genetics, Pellegrin University Hospital, and laboratoire Maladies Rares Génétique et Métabolisme (MRGM), INSERM U1211; Université Bordeaux; Bordeaux France

18. Department of Clinical Genetics; Purpan University Hospital; Toulouse France

Funder

ANR/E-rare Joint-Transnational-Call 2011

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference46 articles.

1. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families;Anheim;Arch Neurol,2008

2. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients;Anheim;Brain J Neurol,2009

3. The autosomal recessive cerebellar ataxias;Anheim;N Engl J Med,2012

4. Neurological symptoms and natural course of xeroderma pigmentosum;Anttinen;Brain J Neurol,2008

5. Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2);Arning;Neurogenetics,2008

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