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…Ataxia in a Puerto Rican woman with a missense variant in the CCDC88 gene
Objective: A 44 years old Puerto Rican woman develops progressive speech difficulties, and cognitive problems. Coordination, balance and gait get affected. Later experienced swallowing problems.…CEREBELLAR COGNITIVE AFFECTIVE SYNDROME IN SPINOCEREBELLAR ATAXIA TYPE 3
Objective: This preliminary study aims to examine whether motor and cognitive features in spinocerebellar ataxia type 3 (SCA3) are manifestations of a shared and parallel,…Effects of Gandouling Tablets on the Muscle tone and stiffness of patients with Wilson’s disease: a randomized, double-blind, placebo-controlled study
Objective: To analyze the effects of Gandouling tablets(GDL) on the tone and stiffness of the biceps brachii muscle in Wilson’s disease (WD) patients, and the correlation between…
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