Genetics and pathogenesis of dystonia
Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …
characterized by abnormal movements and postures caused by involuntary sustained or …
Update on the genetics of dystonia
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of
dystonia has rapidly grown in recent years, which led to the discovery of a number of novel …
dystonia has rapidly grown in recent years, which led to the discovery of a number of novel …
[HTML][HTML] Três gerações de políticas públicas para a agricultura familiar e formas de interação entre sociedade e estado no Brasil
C Grisa, S Schneider - Revista de economia e sociologia rural, 2014 - SciELO Brasil
Este artigo analisa a trajetória de construção de políticas públicas para a agricultura familiar
no Brasil, procurando enfatizar as" gerações" ou referenciais de políticas públicas …
no Brasil, procurando enfatizar as" gerações" ou referenciais de políticas públicas …
EFNS guidelines on diagnosis and treatment of primary dystonias
A Albanese, F Asmus, KP Bhatia… - European Journal of …, 2011 - Wiley Online Library
Objectives: To provide a revised version of earlier guidelines published in 2006.
Background: Primary dystonias are chronic and often disabling conditions with a …
Background: Primary dystonias are chronic and often disabling conditions with a …
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
NE Mencacci, I Rubio-Agusti, A Zdebik, F Asmus… - The American Journal of …, 2015 - cell.com
Myoclonus-dystonia (MD) is a rare movement disorder characterized by a combination of
non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for …
non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for …
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment
E Roze, AE Lang, M Vidailhet - Current Opinion in Neurology, 2018 - journals.lww.com
Myoclonus-dystonia: classification, phenomenology, pathogene... : Current Opinion in
Neurology Myoclonus-dystonia: classification, phenomenology, pathogenesis, and …
Neurology Myoclonus-dystonia: classification, phenomenology, pathogenesis, and …
Myoclonus‐dystonia: an update
K Kinugawa, M Vidailhet, F Clot, E Apartis… - Movement …, 2009 - Wiley Online Library
Our knowledge of the clinical, neurophysiological, and genetic aspects of myoclonus‐
dystonia (M‐D) has improved markedly in the recent years. Basic research has provided …
dystonia (M‐D) has improved markedly in the recent years. Basic research has provided …
Pallidal and thalamic deep brain stimulation in myoclonus‐dystonia
D Gruber, AA Kühn, T Schoenecker, A Kivi… - Movement …, 2010 - Wiley Online Library
Deep brain stimulation (DBS) of the internal globus pallidus (GPi) and ventral intermediate
thalamic nucleus (VIM) are established treatment options in primary dystonia and tremor …
thalamic nucleus (VIM) are established treatment options in primary dystonia and tremor …
The neurobiology of the dystrophin-associated glycoprotein complex
While the function of dystrophin in muscle disease has been thoroughly investigated,
dystrophin and associated proteins also have important roles in the central nervous system …
dystrophin and associated proteins also have important roles in the central nervous system …
SGCE mutations cause psychiatric disorders: clinical and genetic characterization
Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder
characterized by predominant alcohol responsive upper body myoclonus and dystonia. A …
characterized by predominant alcohol responsive upper body myoclonus and dystonia. A …