Progressive myoclonus ataxia and resting tremor in hypoceruloplasminemia
Objective: To describe two familiar cases of hypoceruloplasminemia presenting with movement disorders Background: Aceruloplasminemia is a metabolic disorder caused by mutations in the ceruloplasmin (CP)…Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada: A Multicenter Study
Objective: To describe the demographics and clinical characteristics of Autosomal Dominant (AD) Spinocerebellar Ataxias (SCA) in the Canadian population. Background: SCAs are a group of…Unravelling Hidden Mutations Behind the Heterozygos SYNE1 Genotype
Objective: To present case series of four patients of heterozygous for SYNE1 mutation with phenotype consistent with cerebellar ataxia. Background: Recessive cerebellar ataxias are defined as disorders with autosomal recessive…A CASE REPORT OF EARLY-ONSET SPINOCEREBELLAR ATAXIA TYPE 35
Objective: To broaden diagnostic testing of likely genetic ataxias. Background: Spinocerebellar ataxia (SCA) refers to a heterogeneous group of degenerative genetic disorders which encompasses a…Diagnostic yield for point mutation related SCAs through exome sequencing for undetermined ataxias
Objective: To describe the diagnostic yield of whole exome sequencing (WES) to identify autosomal dominant spinocerebellar ataxias (SCAs) caused by point mutations. Background: There are…Two Different Clinical Presentations in SYNE1 Ataxia in Turkey
Objective: SYNE1 (Spectrin repeat-containing nuclear envelope protein 1) gene mutation, first diagnosed in French Canadians in 2007, is now reported from many regions around the…Late-onset cerebellar ataxia: case report of a new CNV on TTBK2 gene as possible cause of SCA-11
Objective: To describe a case of spinocerebellar ataxia type 11 caused by the copy number variant 43008859_43075833 on the TKKB2 gene Background: The spinocerebellar ataxias…LIG1 polymorphism modifies the age at onset in patients with Spinocerebellar Ataxia type 2
Objective: Assessing the role of LIG1 Exon 6 A→C polymorphism acting as a modifier of clinical severity in patients with Spinocerebellar ataxia type 2 (SCA2).…DHDDS and NUS1: A converging pathway and common phenotype
Objective: To report on the clinical spectrum of variants affecting dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate Synthase 1 (NUS1) and particularly to highlight their…Conservative iron chelation for Neuroferritinopathy
Objective: Evaluate the safety and efficacy of a conservative mode of iron chelation with deferiprone 30 mg/kg/day in neuroferritinopathy to limit iron-related neurodegeneration and associated…
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