Literature DB >> 10554001

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.

T G Nygaard1, D Raymond, C Chen, I Nishino, P E Greene, D Jennings, G A Heiman, C Klein, R J Saunders-Pullman, P Kramer, L J Ozelius, S B Bressman.   

Abstract

Essential myoclonus-dystonia is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs or laboratory abnormalities; it is often responsive to alcohol. The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus-dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31.

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Year:  1999        PMID： 10554001     DOI： 10.1002/1531-8249(199911)46:5<794::aid-ana19>3.0.co;2-2

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  14 in total

1.  A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.

Authors:  C Klein; K Schilling; R J Saunders-Pullman; J Garrels; X O Breakefield; M F Brin; D deLeon; D Doheny; S Fahn; J S Fink; L Forsgren; J Friedman; S Frucht; J Harris; G Holmgren; B Kis; R Kurlan; M Kyllerman; A E Lang; J Leung; D Raymond; J D Robishaw; G Sanner; E Schwinger; R E Tabamo; M Tagliati
Journal:  Am J Hum Genet       Date:  2000-10-05       Impact factor: 11.025

Review 2.  Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.

Authors:  Esther A R Nibbeling; Cathérine C S Delnooz; Tom J de Koning; Richard J Sinke; Hyder A Jinnah; Marina A J Tijssen; Dineke S Verbeek
Journal:  Neurosci Biobehav Rev       Date:  2017-01-28       Impact factor: 8.989

Review 3.  Substance of abuse and movement disorders: complex interactions and comorbidities.

Authors:  Andres Deik; Rachel Saunders-Pullman; Marta San Luciano
Journal:  Curr Drug Abuse Rev       Date:  2012-09

4.  Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Authors:  S Tezenas du Montcel; F Clot; M Vidailhet; E Roze; P Damier; C P Jedynak; A Camuzat; A Lagueny; L Vercueil; D Doummar; L Guyant-Maréchal; J-L Houeto; G Ponsot; S Thobois; M-A Cournelle; A Durr; F Durif; B Echenne; D Hannequin; C Tranchant; A Brice
Journal:  J Med Genet       Date:  2005-10-14       Impact factor: 6.318

Review 5.  Cervical dystonia pathophysiology and treatment options.

Authors:  M Velickovic; R Benabou; M F Brin
Journal:  Drugs       Date:  2001       Impact factor: 9.546

6.  Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.

Authors:  Birgitt Müller; Katja Hedrich; Norman Kock; Natasa Dragasevic; Marina Svetel; Jennifer Garrels; Olfert Landt; Matthias Nitschke; Peter P Pramstaller; Wolf Reik; Eberhard Schwinger; Jürgen Sperner; Laurie Ozelius; Vladimir Kostic; Christine Klein
Journal:  Am J Hum Genet       Date:  2002-11-20       Impact factor: 11.025

7.  Myoclonus.

Authors:  Victoria C Chang; Steven J Frucht
Journal:  Curr Treat Options Neurol       Date:  2008-05       Impact factor: 3.598

Review 8.  Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).

Authors:  Laila Rachad; Nadia El Kadmiri; Ilham Slassi; Hicham El Otmani; Sellama Nadifi
Journal:  Mol Neurobiol       Date:  2016-01-20       Impact factor: 5.590

Review 9.  Primary dystonia: moribund or viable.

Authors:  Susan B Bressman; Rachel Saunders-Pullman
Journal:  Mov Disord       Date:  2013-06-15       Impact factor: 10.338

Review 10.  ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.

Authors:  Ana Cazurro-Gutiérrez; Anna Marcé-Grau; Marta Correa-Vela; Ainara Salazar; María I Vanegas; Alfons Macaya; Àlex Bayés; Belén Pérez-Dueñas
Journal:  Mol Neurobiol       Date:  2021-04-22       Impact factor: 5.590
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