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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's diseaseA mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvementA Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar AtaxiaLoss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationCross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from ChinaTMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD.Deregulation of autophagy in postmortem brains of Machado-Joseph disease patients.Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?Dopaminergic denervation severity depends on COMT Val158Met polymorphism in Parkinson's disease.Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity
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0000-0002-0941-3990