Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia-Reference-Cited by-同舟云学术

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

Published:2016-07-09 Issue:8 Volume:31 Page:1251-1252
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Miltgen Morgane¹,Blanchard Arnaud¹,Mathieu Hélène¹,Kreisler Alexandre²³,Jean‐Pierre‐Desvignes ¹,Salgado David¹,Roubertie Agathe⁴,Barre Laura¹,Rai Ghadi¹,Blanck Veronique⁵,Frederic Melissa¹,Douay Xavier²,Mazzolenni Ronald²,Charpentier Pierre⁶,Gonzalez Victoria⁷,Destée Alain²³,Béroud Christophe¹⁵,Collod‐Béroud Gwenaelle¹^ORCID

Affiliation:

1. Aix Marseille Université, INSERM, GMGF UMR_S 910Marseille France

2. Université de Lille, CHRU de Lille, Service de Neurologie et Pathologie du MouvementLille France

3. INSERM UMR‐S1172Lille France

4. CHRU Montpellier, Service de Neuro‐pédiatrie, Hôpital Gui de Chauliac, Montpellier, France; Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de MontpellierBP 74103Montpellier France

5. Département de Génétique MédicaleHôpital La TimoneMarseille France

6. Service de NeurologieCH Béthune France

7. CHU Montpellier, Hôpital Gui de Chauliac, Service de NeurochirurgieMontpellier France

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.26717

Reference7 articles.

1. Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

2. UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution