A Case of Mitochondrial Membraine Protein-Associated Neurodegeneration with Progressive Parkinsonism in a Young Male
Objective: N/a Background: Less than a hundred cases of mitochondrial membrane protein-associated neurodegeneration (MPAN) have been reported thus far in literature. We present a case…Expanding the Phenotypic Spectrum of CACNA1A Variants: A Single-Center Experience
Objective: This study aims to describe pediatric patients with CACNA1A variants, detailing the clinical phenotype, with emphasis on the movement phenomenologies, genetic variants, electrophysiological and…Beyond “benign”, tremor and epilepsy in FAME3-A New Family Report with Progressive Course and Cognitive Impairment
Objective: To report a family with Familial Cortical Myoclonic Tremor with Epilepsy(FAME) type 3 diagnosed through long-read sequencing and presenting a progressive disease course and…Description Genotype/phenotype of patients with Parkinson’s disease. Report of an Argentinean cohort included in the LARGE PD Consortium.
Objective: To characterize the genetic and phenotypic profile of Argentinean Parkinson's patients and contribute to the understanding of the genetic heterogeneity of this disease. Background:…A unique genetic duality: GAK and SCN4A Mutations in Myasthenic Syndrome and Early-Onset Parkinsonism in a Peruvian woman: A Case Report
Objective: To present the first genetically characterized non-linear summative damage characterized case resulting in early-onset parkinsonism associated with congenital myasthenia Background: The GAK (Cyclin G…Unveiling Parkinson’s Disease Variants in the Chinese Population: The CPD10KGP Study
Objective: In response to these limitations, we are proposing the China Parkinson’s Disease 10,000 Genomes Project (CPD10KGP), which aims to delineate the genetic architecture of…Revealing Novel Genetic Contributors to Parkinson’s Disease in a Chinese Cohort: An Elaborate Examination within the CPD10KGP
Objective: This study employs next-generation sequencing (NGS) and long-read sequencing data (LRS) in Chinese AR-PD families to uncover novel genes, enhancing our genetic comprehension of PD. Background:…Genetic Architecture Of Movement Disorder And Its Association With Consanguinity In Pashtoon Population
Objective: Purpose of the study was to improve the understanding on genetic basis of movement disorders and use of this information for protective measurements like…Genetic Analysis of UK Kindreds with Familial Tremor in The Global Parkinson’s Genetics Progam (GP2)
Objective: To gain a better understanding of the genetic basis of familial tremor syndromes. Background: The genetic basis of tremor is poorly understood and familial…Expanding the Neurogenetic Spectrum: A Case of DEPDC5 Mutation Presenting with Unilateral Tremor and Cognitive Decline
Objective: Here, we report a novel presentation of DEPDC5-related disorders in a 41-year-old patient with unilateral tremors and delayed cognitive decline. Background: DEPDC5 mutations are…
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