A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia-Reference-Cited by-同舟云学术

A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia

Published:2021-11-24 Issue: Volume: Page:
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Khan Amjad¹²³,Molitor Anne¹²,Mayeur Sylvain¹²⁴,Zhang Gaoqun⁵,Rinaldi Bruno⁶,Lannes Béatrice²⁴,Lhermitte Benoît²⁴,Umair Muhammad⁷⁸,Arold Stefan T.⁹¹⁰,Friant Sylvie⁶,Rastegar Sepand⁵,Anheim Mathieu²¹¹¹²,Bahram Seiamak¹²¹³,Carapito Raphael¹²¹³^ORCID

Affiliation:

1. Laboratoire d'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo‐Universitaire OMICARE, ITI TRANSPLANTEX NG Université de Strasbourg Strasbourg France

2. Strasbourg Federation of Translational Medicine (FMTS) Strasbourg University Strasbourg France

3. Faculty of Science, Department of Biological Sciences (Zoology) University of Lakki Marwat Lakki Marwat Khyber Pakhtunkhwa Pakistan

4. Department of Pathology Strasbourg University Hospitals Strasbourg France

5. Institute of Biological and Chemical Systems‐Biological Information Processing (IBCS‐BIP) Karlsruhe Institute of Technology (KIT) Karlsruhe Germany

6. Laboratoire de Génétique Moléculaire, Génomique, Microbiologie GMGM UMR7156 CNRS/Université de Strasbourg, IPCB Strasbourg France

7. Medical Genomics Research Department, King Abdullah International Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs Riyadh Saudi Arabia

8. Department of Life Sciences, School of Science University of Management and Technology (UMT) Lahore Pakistan

9. King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE) Thuwal Saudi Arabia

10. Centre de Biologie Structurale, CNRS, INSERM Université de Montpellier Montpellier France

11. Department of Neurology Strasbourg University Hospitals Strasbourg France

12. INSERM UMR_S 964; CNRS UMR 7104 University of Strasbourg Illkirch‐Graffenstaden France

13. Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil Hôpitaux Universitaires de Strasbourg Strasbourg France

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28861

Reference48 articles.

1. Phenomenology and classification of dystonia: a consensus update;Albanese A;Mov Disord,2013

2. Update on the genetics of dystonia;Lohmann K;Curr Neurol Neurosci Rep,2017

3. The prevalence of primary dystonia: a systematic review and meta‐analysis;Steeves TD;Mov Disord,2012

4. Dystonia updates: definition, nomenclature, clinical classification, and etiology;Grutz K;J Neural Transm (Vienna),2021

5. Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland;Williams L;Eur J Neurol,2017

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder;Frontiers in Genetics;2024-01-12

2. A 4D transcriptomic map for the evolution of multiple sclerosis-like lesions in the marmoset brain;2023-09-27

3. Differentially Expressed Genes in Response to a Squalene-Supplemented Diet Are Accurate Discriminants of Porcine Non-Alcoholic Steatohepatitis;International Journal of Molecular Sciences;2023-08-08

4. DARPP‐32 cells and neuropil define striosomal system and isolated matrix cells in human striatum;Journal of Comparative Neurology;2023-03-31

5. Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype;Cells;2023-01-05