B. Müller

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

Dopamine transmission in <i>DYT1</i> dystonia: A biochemical and autoradiographical study

S.J. Augood, Zane Hollingsworth, David S. Albers et al. · Neurology · 2002 · 123 citations

Life Sciences, Neurobiology, Neuroscience +17

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.

T. Grimm, Sabina Liechti‐Gallati, T. Bettecken et al. · Journal of Medical Genetics · 1994 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic features of myoclonus-dystonia in three kindreds

Dana Doheny, Mitchell F. Brin, Chris Morrison et al. · Neurology · 2002 · 94 citations

Medicine, Genetics, Neurology +16

ε‐sarcoglycan mutations found in combination with other dystonia gene mutations

Christine Klein, Liu Liu, Dana Doheny et al. · Annals of Neurology · 2002 · 88 citations

Medicine, Genetics, Molecular Genetics +10