Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria-Reference-Cited by-同舟云学术

Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria

Published:2013-05-15 Issue:6 Volume:28 Page:787-794
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Carecchio Miryam¹²,Magliozzi Monia³,Copetti Massimiliano⁴,Ferraris Alessandro³,Bernardini Laura³,Bonetti Monica³,Defazio Giovanni⁵,Edwards Mark J.¹,Torrente Isabella³,Pellegrini Fabio⁴⁶,Comi Cristoforo²,Bhatia Kailash P.¹,Valente Enza Maria³⁷

Affiliation:

1. Sobell Department of Motor Neuroscience and Movement Disorders; UCL Institute of Neurology; London United Kingdom

2. Department of Neurology; Amedeo Avogadro University; Novara Italy

3. CSS-Mendel Laboratory; IRCCS Casa Sollievo della Sofferenza; San Giovanni Rotondo Italy

4. Biostatistics Unit; IRCCS Casa Sollievo della Sofferenza; San Giovanni Rotondo Italy

5. Department of Neurosciences and Sensory Organs; School of Motor Sciences; “Aldo Moro” University of Bari; Bari Italy

6. Laboratory of Clinical Epidemiology of Diabetes and Chronic Diseases; Consorzio Mario Negri Sud; Santa Maria Imbaro Italy

7. Department of Medicine and Surgery; University of Salerno; Salerno Italy

Funder

Italian Ministry of Health (Ricerca Corrente 2013) and the Dystonia coalition grant

Department of Health's NIHR Biomedical Research Centres' funding scheme

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.25506/fullpdf

Reference37 articles.

1. Inherited myoclonus-dystonia;Asmus;Adv Neurol,2004

2. Myoclonus-dystonia: an update;Kinugawa;Mov Disord,2009

3. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31;Nygaard;Ann Neurol,1999

4. A novel locus for inherited myoclonus-dystonia on 18p11;Grimes;Neurology,2002

5. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome;Zimprich;Nat Genet,2001

Cited by 33 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. Chorea;Movement Disorders Phenomenology;2024

2. The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list;Parkinsonism & Related Disorders;2023-12

3. Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature;Movement Disorders Clinical Practice;2023-03-16

4. Isolated and combined dystonias: Update;Handbook of Clinical Neurology;2023

5. A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan;The Journal of Molecular Diagnostics;2022-03