The syndrome of deafness-dystonia: Clinical and genetic heterogeneity-Reference-Cited by-同舟云学术

The syndrome of deafness-dystonia: Clinical and genetic heterogeneity

Published:2013-02-15 Issue:6 Volume:28 Page:795-803
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Kojovic Maja¹²,Pareés Isabel¹,Lampreia Tania¹³,Pienczk-Reclawowicz Karolina⁴,Xiromerisiou Georgia⁵⁶,Rubio-Agusti Ignacio¹⁷,Kramberger Milica²,Carecchio Miryam¹⁸,Alazami Anas M.⁹,Brancati Francesco¹⁰¹¹,Slawek Jaroslaw¹²,Pirtosek Zvezdan²,Valente Enza Maria¹⁰¹³,Alkuraya Fowzan S.⁹¹⁴¹⁵,Edwards Mark J.¹,Bhatia Kailash P.¹

Affiliation:

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

2. Department of Neurology; University of Ljubljana; Ljubljana Slovenia

3. Hospital de Egas Moniz; Centro Hospitalar de Lisboa Ocidental; Lisboa Portugal

4. Developmental Neurology Department; Medical University of Gdansk; Poland

5. Department of Molecular Neuroscience and Reta Lila Weston Institute; University College London Institute of Neurology; London, Queen Square London United Kingdom

6. Department of Neurology; Papageorgiou General Hospital; Thessaloniki Greece

7. Movement Disorders Unit; Neurology Department; Hospital Universitario La Fe; Valencia Spain

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

9. Department of Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

10. Istituto di Ricovero e Cura a Carattere Scientifico; Casa Sollievo della Sofferenza, Mendel Laboratory; San Giovanni Rotondo Italy

11. Department of Medical, Oral, and Biotechnological Sciences; Gabriele D'Annunzio University; Chieti Italy

12. Department of Neurological-Psychiatric Nursing; Medical University of Gdansk and Department of Neurology and Stroke; St. Adalbert Hospital; Gdansk Poland

13. Department of Drug and Health Products Sciences; University of Messina; Messina Italy

14. Department of Pediatrics; King Khalid University Hospital and College of Medicine; King Saud University; Riyadh Saudi Arabia

15. Department of Anatomy and Cell Biology; College of Medicine; Alfaisal University; Riyadh Saudi Arabia

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference32 articles.

1. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22;Tranebjaerg;J Med Genet,1995

2. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness;Jin;Nat Genet,1996

3. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome;Alazami;Am J Hum Genet,2008

4. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients;Alazami;Clin Genet,2010

5. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness;Carrozzo;Brain,2007

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