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Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
(Wiley, 2017-03)
Autosomal‐dominant progressive external ophthalmoplegia type 1 (adPEO1) is characterized by slowly progressive ophthalmoplegia. It can be caused by mutations in different genes, including the mitochondrial DNA polymerase ...
Diffuse Decreased Gray Matter In Patients With Idiopathic Craniocervical Dystonia: A Voxel-based Morphometry Study
(FRONTIERS MEDIA SALAUSANNE, 2015)
Truques sensoriais em diferentes tipos de distonia e no espasmo hemifacial
(Universidade Federal de Minas GeraisUFMG, 2010-12-10)
Introduction: The dystonia is a syndrome of sustained involuntary muscle contractions always producing twisting and repetitive movements or abnormal postures. Of all movement disorders associated with basal ganglia ...
Relevance of fluorodopa PET scan in dopamine responsive dystonia and juvenile parkinsonism: a systematic review
(2022)
Background: Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current clinical guidelines offer a diagnostic approach based ...
Letter to the Editor: Focal dystonia associated with pain
(Oxford University Press, 2005)
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia
(Elsevier Science, 2017-07)
Dear EditorPhosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of ...