Myoclonus (etiology) < Myoclonus (genetics) < Myoclonus (history)

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List of bibliographic references

Number of relevant bibliographic references: 46.
[0-20] [0 - 20][0 - 46][20-40]

Ident.	Authors (with country if any)	Title
000423 (2001)	D A Grimes [Canada] ; D. Bulman ; P S George-Hyslop ; A E Lang	Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.
000563 (2001)	T. Trottenberg [Allemagne] ; W. Meissner ; C. Kabus ; G. Arnold ; T. Funk ; K M Einhaupl ; A. Kupsch	Neurostimulation of the ventral intermediate thalamic nucleus in inherited myoclonus-dystonia syndrome.
000804 (2002)	Danqing Zhu [Australie] ; Christopher Burke ; Anthony Leslie ; Garth A. Nicholson	Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
000B70 (2003)	Enza-Maria Valente [Italie] ; Anjum Misbahuddin ; Francesco Brancati ; Mark R. Placzek ; Barbara Garavaglia ; Sergio Salvi ; Andrea Nemeth ; Charles Shaw-Smith ; Nardo Nardocci ; Anna-Rita Bentivoglio ; Alfredo Berardelli ; Roberto Eleopra ; Bruno Dallapiccola ; Thomas T. Warner	Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.
000D42 (2004)	Norman Kock [Allemagne] ; Meike Kasten ; Birgitt Schüle ; Katja Hedrich ; Karin Wiegers ; Kemal Kabakci ; Johann Hagenah ; Peter P. Pramstaller ; Matthias F. Nitschke ; Alexander Münchau ; Jürgen Sperner ; Christine Klein	Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.
000F60 (2004)	Sean O'Riordan [Irlande (pays)] ; Laurie J. Ozelius ; Patricia De Carvalho Aguiar ; Michael Hutchinson ; Mary King ; Tim Lynch	Inherited myoclonus-dystonia and epilepsy: further evidence of an association?
000F99 (2004)	Kathrin Grundmann [Allemagne] ; Ulrike Laubis-Herrmann ; Dirk Dressler ; Juliane Vollmer-Haase ; Peter Bauer ; Manfred Stuhrmann ; Thorsten Schulte ; Ludger Schöls ; Helge Topka ; Olaf Riess	Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
001429 (2006)	Anna De Rosa [Italie] ; Pasquale Striano ; Fabrizio Barbieri ; Arturo De Falco ; Carlo Rinaldi ; Tecla Tucci ; Salvatore Striano ; Alessandro Filla ; Giuseppe De Michele	Suppression of myoclonus in SCA2 by piracetam.
001532 (2006)	Frédéric Bourdain [France] ; Emmanuelle Apartis ; Jean-Marc Trocello ; Jean-Sébastien Vidal ; Pascal Masnou ; Laurent Vercueil ; Marie Vidailhet	Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor.
001609 (2006)	Monique H M. Vlak [Pays-Bas] ; Richard J. Sinke ; Gwenda M. Rabelink ; Berry P H. Kremer ; Bart P C. Van De Warrenburg	Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
001A37 (2007)	Anjum Misbahuddin [Royaume-Uni] ; Mark Placzek ; Graham Lennox ; Jan-Willem Taanman ; Thomas T. Warner	Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.
001B50 (2007)	Vanderci Borges ; Patricia De Carvalho Aguiar ; Henrique Ballalai Ferraz ; Laurie J. Ozelius	Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia.
001B53 (2007)	Eun Joo Chung ; Won Yong Lee ; Ji-Youn Kim ; Jong-Hun Kim ; Gyeong-Moon Kim ; Chang Seok Ki ; In-Suk Kim	Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.
001C01 (2007)	Stéphane Thobois ; Hélène Gervais-Bernard ; Jing Xie-Brustolin ; Julie Zyss ; Karine Ostrowsky ; Emmanuel Broussolle	Evidence for progressive changes in clinical presentation of myoclonus-dystonia.
001D99 (2007)	Friedrich Asmus [Allemagne] ; Anita Devlin ; Marita Munz ; Alexander Zimprich ; Thomas Gasser ; Patrick F. Chinnery	Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
001E34 (2008)	Nardo Nardocci [Italie] ; Giovanna Zorzi ; Chiara Barzaghi ; Federica Zibordi ; Claudia Ciano ; Daniele Ghezzi ; Barbara Garavaglia	Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
001F85 (2008)	Fabin Han [Canada] ; Lemuel Racacho ; Howard Yang ; Tara Read ; Oksana Suchowersky ; Anthony E. Lang ; David A. Grimes ; Dennis E. Bulman	Large deletions account for an increasing number of mutations in SGCE.
001F98 (2008)	Deborah Raymond [États-Unis] ; Rachel Saunders-Pullman ; Patricia De Carvalho Aguiar ; Birgitt Schule ; Norman Kock ; Jennifer Friedman ; Juliette Harris ; Blair Ford ; Steven Frucht ; Gary A. Heiman ; Danna Jennings ; Dana Doheny ; Mitchell F. Brin ; Deborah De Leon Brin ; Trisha Multhaupt-Buell ; Anthony E. Lang ; Roger Kurlan ; Christine Klein ; Laurie Ozelius ; Susan Bressman	Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
002105 (2008)	Hélio A G. Teive ; Renato P. Munhoz ; Juliano A. Muzzio ; Rosana H. Scola ; Cláudia K. Kay ; Salmo Raskin ; Lineu C. Werneck ; Helene Bruhn	Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report.
002191 (2008)	Xue-Ping Chen [République populaire de Chine] ; Yang-Wei Zhang ; Shu-Shan Zhang ; Qin Chen ; Jean-Marc Burgunder ; Shu-Hui Wu ; Yuan Yang ; Zu-Ming Luo ; Hui-Fang Shang	A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.
002249 (2008)	Vasiliki Koukouni [Royaume-Uni] ; Enza Maria Valente ; Carla Cordivari ; Kailash P. Bhatia ; Niall P. Quinn	Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.

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