Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism-Reference-Cited by-同舟云学术

Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism

Published:2020-01-10 Issue:5 Volume:35 Page:880-885
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Wirth Thomas¹^ORCID,Mariani Louise Laure²³^ORCID,Bergant Gaber⁴,Baulac Michel²³,Habert Marie‐Odile⁵⁶,Drouot Nathalie⁷,Ollivier Emmanuelle⁸,Hodžić Alenka⁴,Rudolf Gorazd⁴,Nitschke Patrick⁸,Rudolf Gabrielle¹⁷⁹,Chelly Jamel¹⁷¹⁰,Tranchant Christine¹⁷⁹,Anheim Mathieu¹⁷⁹,Roze Emmanuel²³

Affiliation:

1. Département de neurologie, Hôpital de HautepierreHôpitaux Universitaires de Strasbourg Strasbourg France

2. Sorbonne UniversitéInstitut du Cerveau et de la Moelle épinière, Inserm U 1127, CNRS UMR 7225 F‐75013 Paris France

3. Assistance Publique–Hôpitaux de Paris, Department of NeurologyHôpital Pitié‐Salpêtrière F‐75013 Paris France

4. Clinical Institute of Medical GeneticsUniversity Medical Centre Ljubljana Ljubljana Slovenia

5. Sorbonne UniversitéCNRS, INSERM, Laboratoire d'Imagerie Biomédicale, LIB F‐75006 Paris France

6. AP‐HPHôpital Pitié‐Salpêtrière, Médecine Nucléaire F‐75013 Paris France

7. Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch France

8. Institut IMAGINE, Bioinformatics PlatformUniversité Paris Descartes Paris France

9. Fédération de Médecine Translationnelle de Strasbourg (FMTS)Université de Strasbourg Strasbourg France

10. Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg Strasbourg France

Funder

Association France Parkinson

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.27982

Reference24 articles.

1. Phenomenology and classification of dystonia: A consensus update

2. Mild parkinsonian features in dystonia: Literature review, mechanisms and clinical perspectives

3. Isolated and combined dystonia syndromes - an update on new genes and their phenotypes

4. Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients

5. Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin , PINK1 , DJ1: MDSGene Systematic Review

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