Genotype–phenotype relations for isolated dystonia genes: MDSGene systematic review
LM Lange, J Junker, S Loens, H Baumann… - Movement …, 2021 - Wiley Online Library
This comprehensive MDSGene review is devoted to 7 genes—TOR1A, THAP1, GNAL,
ANO3, PRKRA, KMT2B, and HPCA—mutations in which may cause isolated dystonia. It …
ANO3, PRKRA, KMT2B, and HPCA—mutations in which may cause isolated dystonia. It …
N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force
C Marras, A Lang, BP van de Warrenburg… - Movement …, 2016 - Wiley Online Library
The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …
with a familial disorder has a number of problems when used as a reference list of …
[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 …
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva… - Nature …, 2017 - nature.com
Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now
known to be critical in the regulation of gene expression, genomic stability, cell cycle and …
known to be critical in the regulation of gene expression, genomic stability, cell cycle and …
Dystonia
Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …
Mutations in GNAL cause primary torsion dystonia
T Fuchs, R Saunders-Pullman, I Masuho, MS Luciano… - Nature …, 2013 - nature.com
Dystonia is a movement disorder characterized by repetitive twisting muscle contractions
and postures,. Its molecular pathophysiology is poorly understood, in part owing to limited …
and postures,. Its molecular pathophysiology is poorly understood, in part owing to limited …
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis
In this study, we combined linkage analysis with whole-exome sequencing of two individuals
to identify candidate causal variants in a moderately-sized UK kindred exhibiting autosomal …
to identify candidate causal variants in a moderately-sized UK kindred exhibiting autosomal …
Dystonia updates: definition, nomenclature, clinical classification, and etiology
A plethora of heterogeneous movement disorders is grouped under the umbrella term
dystonia. The clinical presentation ranges from isolated dystonia to multi-systemic disorders …
dystonia. The clinical presentation ranges from isolated dystonia to multi-systemic disorders …
The focal dystonias: current views and challenges for future research
HA Jinnah, A Berardelli, C Comella… - Movement …, 2013 - Wiley Online Library
The most common forms of dystonia are those that develop in adults and affect a relatively
isolated region of the body. Although these adult‐onset focal dystonias are most prevalent …
isolated region of the body. Although these adult‐onset focal dystonias are most prevalent …