High rate of mutations in complex dystonia revealed by exome sequencing
Objective: This study aimed at identifying the missing genetic causes in dystonia without diagnosis following movement disorders gene panel sequencing. Background: Dystonia aetiologies are highly…GNAO1 gene mutation: generalized dystonia without epilepsy.
Objective: GNAO1 gene mutation is considered in the differential diagnosis of early onset epileptic encephalopathies (EOEE) with movement disorders. De novo GNAO1 mutations were first…Hereditary spastic paraplegia presenting as limb dystonia with a novel SPG7 mutation
Objective: We present a case of a patient who presented with limb dystonia and was found to have HSP associated with a previously unreported compound…The phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP) is broader than previously defined
Objective: To update the phenotype of RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene,…Targeted Next Generation Sequencing in Diagnosis of Dystonia Patients
Objective: To assess the effectiveness of the targeted next generation sequencing in dystonia patients in China. Background: Dystonia is a movement disorder with high clinical…Does ‘DYT23’ exist? Report of a second family with adult- onset focal dystonia and a CACNA1AB mutation – causative or coincidental?
Objective: To describe clinical and genetic findings in a patient with focal adult-onset primary cranial dystonia and chorea, and a mutation in CACNA1B (also referred…Dissecting molecular signatures of X-linked dystonia-parkinsonism (XDP) through integrative genomics studies
Objective: To determine the causal locus and functional mechanism associated with XDP using integrative genomics methods in patient-derived and genome-edited induced pluripotent stem cell (iPSC)…Mingo Supplement Trial: An Open-Labeled Randomized-Controlled Trial in X-linked Dystonia-Parkinsonism patients in the Province of Capiz, Philippines
Objective: To see whether increasing the caloric intake of patients by 480 calories per day using a locally sourced food supplement, Mingo, would raise the…Familial SCA2-parkinsonism presented as intractable oromandibular dystonia
Objective: We report a patient of spinocerebellar ataxia type 2(SCA2)-parkinsonism family who developed oromandibular dystonia as the chief presentation. Background: We previously described a Korean…Writing tremor: Should we look for a TOR1A mutation?
Objective: Writing tremor is not always a primary writing tremor but can undermask a dystonia gene-associated tremor. Background: Dystonia gene-associated tremor corresponds to isolated tremor…
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