Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an adult patient presenting with movement disorders and Mitochondrial DNA Depletion
Objective: To determine cause of disease in an adult patient with an undiagnosed chronic neurodegenerative disease. Background: POLG2 is a nuclear gene responsible for mtDNA…Gene panel testing in movement disorders: an efficient approach highlighting overlaps and heterogeneity
Objective: Our study aimed at developing a targeted sequencing approach using a customized panel of genes involved in movement disorders (MDs). Background: MDs are characterized…NKX2-1-Related Disorder with Cerebral Folate Deficiency
Objective: To describe a patient with a de novo NKX2-1 mutation and low CSF 5-methyltetrahydrofolate (5MTHF) who had mild improvement in fine motor control after…Neuropathology in a case of HD-like syndrome caused by mutations in RNF216
Objective: To describe the neuropathology in a rare case of autosomal recessive HD like syndrome due to homozygous RNF216 mutations. To confirm the hypothesis of…Gene Expression Profiling of depression in Huntington’s disease
Objective: This preliminary study was designed to investigate the gene expression profile by RNA-seq in HD patients with depression and without depression, and between subjects…MDS Rare Movement Disorders Study Group Global Genetic Testing Survey: exploring the unmet needs
Objective: To better understand access to genetic testing at the international level. Background: One of the objectives of the Rare Diseases Study Group (RDSG) of…Cerebellar Ataxia in Patients with Huntington’s Disease, an underestimated symptom?
Objective: To analyze the prevalence of cerebellar ataxia in patients with Huntington’s Disease (HD), both early and late on HD progression and correlating the degree…Clinical and imaging characteristics of manifest LRRK2 and GBA carriers: The PPMI cohort
Objective: To compare baseline clinical and imaging characteristics of the GBA and LRRK2 PD manifest cohorts to PD sporadic (sPD) cohort. Background: The phenotype and…Homozygous Huntington’s disease with two reduced penetrance alleles: A Case Report
Objective: To clinically characterize a Huntington's disease patient with two reduced penetrance alleles. Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder manifesting with…Clinical and imaging characteristics of non-manifest LRRK2 and GBA carriers: The PPMI cohort
Objective: To examine baseline clinical and dopamine transporter (DAT) imaging characteristics in a cohort of non-manifest carriers (NMC) of GBA and LRRK2 compared to healthy…
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