<scp>DYT‐TUBB4A</scp> ( <scp>DYT4</scp> Dystonia): Clinical Anthology of 11 Cases and Systematized Review-Reference-Cited by-同舟云学术

DYT‐TUBB4A ( DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review

Published:2022-04-28 Issue:5 Volume:9 Page:659-675
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Bally Julien F.¹²^ORCID,Kern Drew S.³⁴,Fearon Conor²^ORCID,Camargos Sarah⁵,Pereira da Silva‐Junior Francisco⁶⁷,Barbosa Egberto Reis⁶,Ozelius Laurie J.⁸,de Carvalho Aguiar Patricia⁷⁹,Lang Anthony E.²

Affiliation:

1. Service of Neurology, Department of Clinical Neurosciences Lausanne University Hospital and University of Lausanne Lausanne

2. The Edmond J Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital & University of Toronto Toronto Ontario

3. Department of Neurology University of Colorado School of Medicine Aurora Colorado USA

4. Department of Neurosurgery University of Colorado School of Medicine Aurora Colorado USA

5. Department of Internal Medicine Universidade Federal de Minas Gerais Belo Horizonte Brazil

6. Department of Neurology Universidade de Sao Paulo Sao Paulo Brazil

7. Hospital Israelita Albert Einstein Sao Paulo Brazil

8. Department of Neurology Massachusetts General Hospital Boston Massachusetts USA

9. Department of Neurology and Neurosurgery Universidade Federal de Sao Paulo Sao Paulo Brazil

Funder

Foundation for the National Institutes of Health

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13452

Reference18 articles.

1. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

2. Hereditary whispering dysphonia.

3. Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal

4. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in theTUBB4gene

5. Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia

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1. Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India;Parkinsonism & Related Disorders;2024-07

2. Inherited Dystonias;Reference Module in Neuroscience and Biobehavioral Psychology;2024

3. Developmental regression with early feeding difficulties and characteristic neuroimaging features of H‐ABC in an infant from a TUBB4A genetic variant;Journal of Paediatrics and Child Health;2023-09-12

4. Hypomyelinating leukodystrophy and movement disorders;Annals of Movement Disorders;2023-05

5. DYT-TUBB4A;Annals of Indian Academy of Neurology;2023-02-02