A de novo ADCY5 mutation causes early‐onset autosomal dominant chorea and dystonia-Reference-Cited by-同舟云学术

A de novo ADCY5 mutation causes early‐onset autosomal dominant chorea and dystonia

Published:2014-12-27 Issue:3 Volume:30 Page:423-427
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Carapito Raphael¹,Paul Nicodème¹,Untrau Meiggie¹,Le Gentil Marion¹,Ott Louise¹,Alsaleh Ghada¹,Jochem Pierre¹,Radosavljevic Mirjana¹,Le Caignec Cédric²,David Albert²,Damier Philippe³,Isidor Bertrand²⁴,Bahram Seiamak¹

Affiliation:

1. Plateforme GENOMAXLaboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie, Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg Strasbourg France

2. Service de Génétique MédicaleCHU Nantes Nantes France

3. CIC0004, Clinique NeurologiqueCHU Nantes Nantes France

4. INSERMUMR 957 Nantes France

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.26115

Reference12 articles.

1. The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test

2. A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions