Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch, +107

The Lancet Neurology

Mendelian DisorderGenetic DisorderGeneticsNeuroscienceMonogenic Variants +1

Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up

Michael Zech, Sylvia Boesch, Angela Jochim, +14

Movement Disorders

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Michael Zech, Daniel D. Lam, Ludmila Francescatto, +12

The American Journal of Human Genetics

GeneticsPathologyDegenerative DiseaseRecessive MutationsMedicine +1

Altered functional connectivity in blepharospasm/orofacial dystonia

Angela Jochim, Yong Li, Gina Gora‐Stahlberg, +5

Brain and Behavior

Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders

Michael Zech, Georg Nübling, Florian Castrop, +18

PLoS ONE

Corticobasal DegenerationGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +17

IRAG determines nitric oxide- and atrial natriuretic peptide-mediated smooth muscle relaxation

Matthias Desch, Katja Sigl, Bernhard Hieke, +12

Cardiovascular Research

White-matter lesions drive deep gray-matter atrophy in early multiple sclerosis: support from structural MRI

Mark Mühlau, Dorothea Buck, Annette Förschler, +11

Multiple Sclerosis Journal

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls

Michael Zech, Angela Jochim, Florian Castrop, +8

Movement Disorders

Influence of the HLA-DRB1 Genotype on Antibody Development to Interferon Beta in Multiple Sclerosis

Dorothea Buck, Sabine Cepok, Steve Hoffman, +5

Archives of Neurology

DYT16 revisited: Exome sequencing identifies <i>PRKRA</i> mutations in a European dystonia family

Michael Zech, Florian Castrop, Barbara Schormair, +10

Movement Disorders