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:…RAB32 c.213C>G (p.Ser71Arg) explains Parkinson’s disease in two UK families: description of the clinical and biochemical features
Objective: To describe the clinical features, family structure of two families identified to have the recently described pathogenic variant RAB32 c.213C>G (p.Ser71Arg). Background: Genetic mutations…Utility of using long-read whole genome sequencing to solve exome negative early-onset and familial Parkinson’s disease: a series of 106 individuals
Objective: (i) To identify complex variants usually not visible by short-read whole exome sequencing in known genes of Parkinson’s disease (PD) such as structural variants…Contribution of Genetics to Onset of PD with Leg Tremor
Objective: To determine frequency and determinants of resting tremor in the leg as first motor symptom in Parkinson Disease (PD), especially as related to age…
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