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PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the LiteraturePreferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeThe role of de novo mutations in the development of amyotrophic lateral sclerosis.Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.Early white matter involvement in an infant carrying a novel mutation in ACOX1.Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.Amyotrophic lateral sclerosis causes small fiber pathologyMutations of FUS gene in sporadic amyotrophic lateral sclerosisNovel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosisCognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral SclerosisCortical markers of cognitive syndromes in amyotrophic lateral sclerosis
P50
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P50
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hulumtuese
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հետազոտող
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Viviana Pensato
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Viviana Pensato
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Viviana Pensato
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P1053
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0000-0001-9798-2669