about
Exome sequencing reveals VCP mutations as a cause of familial ALSFrontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.Genetic architecture of ALS in SardiniaCHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTDClinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.Extensive genetics of ALS: a population-based study in Italy.Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutationHFE p.H63D polymorphism does not influence ALS phenotype and survival.ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study.TBK1 is associated with ALS and ALS-FTD in Sardinian patients.The Role of APOE in the Occurrence of Frontotemporal Dementia in Amyotrophic Lateral Sclerosis.Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.ATXN2 polyQ intermediate repeats are a modifier of ALS survival.Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy.Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.An ALS case with a novel D90N-SOD1 heterozygous missense mutationExome Sequencing Reveals VCP Mutations as a Cause of Familial ALSThe multistep hypothesis of ALS revisited: The role of genetic mutationsExome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis
P50
Q24631513-600707DD-5B28-4E16-AC59-C956B1651698Q34180936-AF34D217-32D8-4F5C-B1EA-20D0BB69F006Q34274164-938ADEB8-728B-44F6-854E-D6F5103A2E47Q34613626-169D43E6-C7A3-4D9B-8CA6-6E4A961E3FA0Q35236293-B83B4BF2-8005-4575-BEF6-B5AA3EA540B4Q35332219-DBCA499B-E179-4C64-97CF-42A5EA795506Q35776923-88FEB23F-E750-41D8-AAAF-32FB8E83C711Q36024669-EEB24A26-4B6D-4FF8-80BD-CB5C4A681E0AQ36057290-3B842310-3548-468A-83A2-658E6E6EF0BFQ36080866-AFB63706-D06A-4E03-86BD-A04C8EFFE94CQ36354384-FDB55165-2736-4349-B94C-DE4575F731CEQ36359631-C1BBB0AD-4DC8-4910-9BD4-59F236F4048DQ36441637-B7DE2722-6832-45CF-A1EE-A2912FB90DC4Q36504551-CD998CBD-99F3-4F52-BC60-6B22776B8269Q36642638-F61DC8F3-C90C-4635-9866-07215BA100F5Q37408567-D2360C8A-E98A-4BAD-9CF6-255D9CA990A5Q37531688-DE6C3F53-282B-440B-85A6-E87139583D4DQ37540488-9558A486-E2DB-4E32-A62E-BB784C837D99Q37652972-7573B37C-FDDE-4AFE-B01D-925410ECF67EQ38877010-2B78B8F4-9A90-4577-8481-A29B87203CFBQ39785884-288E3C86-8A81-4FC6-9E2B-A73CFD36FA92Q39977770-AA684815-7590-41B6-9E7F-E30D31713735Q41392222-0E1E5859-6CCC-4E9C-AEE1-23BFB70B8347Q44131637-6589FC67-B347-47DF-AEB0-3129CD1BEAB8Q44520574-F8C325F6-1D3C-45E1-9087-6775CA3D049EQ47999013-9ECCA653-6C33-451E-A61C-2D58F6E86BA9Q58148203-DCBB6C22-2D37-4657-BB82-EB145F239717Q58623084-45DEDC62-4835-406B-A7B0-29924695B70BQ58780876-07DE84BF-152A-4F61-A8BD-C66EA8EB78D2Q64057202-B5095A96-BA28-4224-A16A-C57BD98A4F13
P50
description
neuroscientist
@en
name
Maura Brunetti
@en
Maura Brunetti
@nl
type
label
Maura Brunetti
@en
Maura Brunetti
@nl
prefLabel
Maura Brunetti
@en
Maura Brunetti
@nl