The multiple faces of the ATP1A3 -related dystonic movement disorder-Reference-Cited by-同舟云学术

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The multiple faces of the ATP1A3 -related dystonic movement disorder

Published:2013-03-08 Issue:10 Volume:28 Page:1457-1459
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Roubergue Anne¹,Roze Emmanuel²³⁴⁵,Vuillaumier-Barrot Sandrine⁶,Fontenille Marie-Joséphine²⁴⁵,Méneret Aurélie²³⁴⁵,Vidailhet Marie²³⁴⁵,Fontaine Bertrand²³⁴⁵,Doummar Diane¹,Philibert Bertrand⁷,Riant Florence⁸⁹,Nicole Sophie²⁴⁵

Affiliation:

1. AP-HP, Service de Neuropédiatrie; Hôpital Armand Trousseau Paris; France

2. INSERM, U975, Centre de Recherche de l'Institut du Cerveau et de la Moëlle épinière (CRICM); Paris France

3. AP-HP, Département de Neurologie Groupe Hospitalier Pitié-Salpêtrière; Paris France

4. CNRS, UMR 7225 Paris France

5. Université Pierre et Marie Curie-Paris 6; UMRS975 Paris France

6. AP-HP, Service de Biochimie A; Hôpital Claude Bernard; Paris France

7. Service de Neurologie, Centre Hospitalier Départemental La Roche-sur-Yon; France

8. APHP, Laboratoire de Génétique, Groupe Hospitalier Lariboisière-Fernand Widal; Paris France

9. INSERM, U740, Université Denis Diderot-Paris 7 UMR S740; Paris France

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.25396/fullpdf

Reference8 articles.

1. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood;Heinzen;Nat Genet.,2012

2. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study;Rosewich;Lancet Neurol.,2012

3. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism;Carvalho Aguiar;Neuron.,2004

4. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults;Panagiotakaki;Brain.,2010

5. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene;Brashear;Brain.,2007

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1. In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism;Frontiers in Neuroscience;2024-07-31

2. Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review;Rambam Maimonides Medical Journal;2024-07-30

3. ATP1A3 potentially causes hereditary spastic paraplegia: A case report of a patient presenting with lower limb spasticity and intellectual disability;Brain and Development Case Reports;2024-06

4. Dopa-responsive dystonia and paroxysmal dystonic attacks associated withATP1A3gene variant;Practical Neurology;2024-03-07

5. Alternating hemiplegia of childhood;Handbook of Clinical Neurology;2023

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