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ELOVL5 mutations cause spinocerebellar ataxia 38Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegiaHereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaCloning of the SCA7 gene reveals a highly unstable CAG repeat expansionCloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeatsLoss of association of REEP2 with membranes leads to hereditary spastic paraplegiaMutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaKCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsA genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegiaClose associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populationsThe gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyA Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar AtaxiaExome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersA novel locus for autosomal recessive spastic ataxia on chromosome 17pMutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypesHeterozygous OPA1 mutations in Behr syndromeA de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasiaSevere dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationAbsence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease.Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph diseasePrediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.Mutations in KCND3 cause spinocerebellar ataxia type 22.Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype studySpinocerebellar ataxia 13 and 25.Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content.Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients.Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disordersSenataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia
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հետազոտող
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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Giovanni Stevanin
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