Results 101 to 110 of about 630 (120)

Contribution of Genetics to Parkinson's Disease and Future Prospects. [PDF]

Juntendo Med J
Funayama M.
europepmc   +1 more source

Genetic Targets and Applications of Iron Chelators for Neurodegeneration with Brain Iron Accumulation. [PDF]

ACS Bio Med Chem Au
Marupudi N, Xiong MP.
europepmc   +1 more source

Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes. [PDF]

Brain
Zheng Y, Wang P, Li S, Long Y, Jiang Y, Guo D, Jia X, Liu M, Zeng Y, Xiao X, Hejtmancik JF, Zhang Q, Sun W.   +12 more
europepmc   +1 more source

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition. [PDF]

Orphanet J Rare Dis
Ventura I, Revert-Ros F, Revert F, Prieto-Ruiz JÁ, Hernández-Andreu JM.   +4 more
europepmc   +1 more source

Expanding the phenotypic spectrum of <i>RNASEH2B</i> mutations: A new case of pure hereditary spastic paraplegia and a systematic review. [PDF]

Curr J Neurol
Habibi-Kavashkohie MR, Danaeefard F, Rohani M, Alavi A.   +3 more
europepmc   +1 more source

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

Parkinsonism and Related Disorders, 2021
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to define ...
Olivia J Rickman, Claire G Salter, James Fasham   +2 more
exaly   +2 more sources

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

Journal of Neurology, 2012
Mutations in C19orf12 have been recently identified as the molecular genetic cause of a subtype of neurodegeneration with brain iron accumulation (NBIA).
C Gaul, C Behrmann, Gaul C
exaly   +3 more sources

The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN

Parkinsonism and Related Disorders, 2017
Introduction: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA).
Simone Olgiati, Okan Dogu, Zeynep Tufekcioglu   +2 more
exaly   +2 more sources

SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review

Neurogenetics, 2021
C19orf12 gene biallelic mutations lead mainly to neurodegeneration with brain iron accumulation-4. A 15-year-old male and his 17-year-old sister complained of cramps and exercise intolerance.
Gauthier Remiche, Isabelle Vandernoot
exaly   +2 more sources