Associated Papers
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models.
Li Z et al.
Cells, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India.
Dhar D et al.
Parkinsonism & Related Disorders, 2024
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Azuma K et al.
Clinical Genetics, 2023
A Japanese family with dystonia due to a pathogenic variant in SGCE.
Morikawa T et al.
Human Genome Variation, 2022
SGCE Myoclonus-Dystonia: An Inherited Movement Disorder.
Yoganathan S et al.
Neurology, 2022
ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.
Cazurro-Gutiérrez A et al.
Molecular Neurobiology, 2021
Long-term effects of pallidal and thalamic deep brain stimulation in myoclonus dystonia.
Krause P et al.
European Journal of Neurology, 2021
Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.
Kutschenko A et al.
International Journal of Molecular Sciences, 2021
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
Grütz K et al.
Scientific Reports, 2017
Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia.
Weissbach A et al.
Parkinsonism & Related Disorders, 2013
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
Ritz K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.
Gerrits MC et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
Marelli C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Raymond D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A et al.
Human Mutation, 2008
Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
Nardocci N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
Esapa CT et al.
Human Molecular Genetics, 2007
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
Tezenas du Montcel S et al.
Journal of Medical Genetics, 2006
Clinical and molecular genetic evaluation of patients with primary dystonia.
Shang H et al.
European Journal of Neurology, 2005
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
Hedrich K et al.
Neurology, 2004
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.
Han F et al.
Neurology, 2003
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
Grabowski M et al.
European Journal of Human Genetics : Ejhg, 2003
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
Asmus F et al.
Annals of Neurology, 2002
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Zimprich A et al.
Nature Genetics, 2001