Early onset parkinsonism and optic atrophy due to SLC25A46 mutations
Objective: To define the genetic background of a case affected by parkinsonism with optic atrophy. Background: Mutations in SLC25A46 have been recently described as causative…Parkinsonism and other motor features in familial frontotemporal dementia with mutations in the MAPT, GRN, or C9orf72 gene (LEFFTDS cohort)
Objective: We compared motor features in patients with familial frontotemporal dementia (f-FTD) and MAPT, GRN or C9orf72 gene mutations. Special emphasis was placed on the evaluation…Reverse phenotyping of a 3.3Mb loss of 8p11.21p11.1, including SLC20A2, lead to a diagnosis of primary familial brain calcification
Objective: To describe the clinical picture of a patient with a large deletion in band 8p11.21p11.1 including SLC20A2 and present a review of patients with a…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…A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel/Crohn’s disease
Objective: The aim of this study to understand and define genetic overlap between multiple system atrophy (MSA) and autoimmune diseases such as Crohn’s disease (CD),…Intronic pentanucleotide TTTCA repeat insertions do not cause familial and sporadic cortical myoclonic tremor with epilepsy in the UK
Objective: To ascertain whether intronic TTTCA repeat insertions in the SAMD12, TNRC6Aand RAPGEF2 genes cause benign adult familial myoclonic epilepsy (BAFME) and progressive myoclonic epilepsy in the UK. Background:…A case report of two siblings Aicardi-Goutières Syndrome type 2
Objective: To report two sisters with late diagnosis of Aicardi-Goutières Syndrome 2. Background: Aicardi-Goutières Syndrome (AGS) is a rare encephalopathy characterized by basal ganglia calcification,…Neurological Wilson Disease: Clinical Aspects and Evolution in 10 Cases
Objective: Describe the clinical aspects and evolution in 10 patients with neurological Wilson's disease (NWD). Background: Wilson's disease (WD) is a rare autosomal recessive metabolic…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…The Role of Dysfunctional BDNF in Remodeling the Parkinsonian Striatum Following Dopamine Neuron Grafting in CRISPR rs6265 Rats
Objective: To evaluate the impact of the rs6265 Bdnf single nucleotide polymorphism (SNP) on function & synaptic integration of primary dopamine (DA) neuron grafts in…
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