Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history

Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome

Alexander Zimprich, Monika Grabowski, Friedrich Asmus et al. · Nature Genetics · 2001 · 480 citations

Life Sciences, Genetics, Molecular Genetics +11

Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families

Laura Almasy, Susan Bressman, Deborah Raymond et al. · Annals of Neurology · 1997 · 179 citations

Life Sciences, Genetics, Molecular Genetics +12

Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia

B. Müller, Katja Hedrich, Norman Kock et al. · The American Journal of Human Genetics · 2002 · 162 citations · Full text

Medicine, Genetics, Molecular Genetics +15

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

Monika Grabowski, Alexander Zimprich, Bettina Lorenz‐Depiereux et al. · European Journal of Human Genetics · 2003 · 161 citations

Life Sciences, Genetics, Molecular Genetics +14

Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

Renzo Guerrini, Paolo Bonanni, Nardo Nardocci et al. · Annals of Neurology · 1999 · 157 citations

Life Sciences, Genetics, Neurology +17