Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide
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Frontotemporal dementia: a bridge between dementia and neuromuscular diseaseIntrinsic disorder in proteins involved in amyotrophic lateral sclerosis.ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.The epidemiology of ALS: a conspiracy of genes, environment and time.The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsAntisense therapy in neurologyLack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Prognostic Factors in Amyotrophic Lateral Sclerosis: A Population-Based StudyHexanucleotide Repeat Expansion in C9ORF72 Is Not Detected in the Treatment-Resistant Schizophrenia Patients of Chinese Han.TARDBP mutations are not a frequent cause of ALS in Finnish patients.The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.C9ORF72 mutations in neurodegenerative diseases.The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.Neurogenetic disorders in the Basque population.Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin.Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis.Comparative analysis of C9orf72 and sporadic disease in an ALS clinic populationThe C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.Ethnic and demographic incidence of amyotrophic lateral sclerosis (ALS) in Brazil: A population based study.Analysis of the C9orf72 gene in spinal muscular atrophy patients.C9orf72 repeat expansions are not detected in Chinese patients with familial ALS.Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.The roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype.Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions
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Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide
description
article
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im Oktober 2012 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована в жовтні 2012
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name
Analysis of theC9orf72Gene in ...... ifferent Populations Worldwide
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Analysis of theC9orf72Gene in ...... ifferent Populations Worldwide
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type
label
Analysis of theC9orf72Gene in ...... ifferent Populations Worldwide
@en
Analysis of theC9orf72Gene in ...... ifferent Populations Worldwide
@nl
prefLabel
Analysis of theC9orf72Gene in ...... ifferent Populations Worldwide
@en
Analysis of theC9orf72Gene in ...... ifferent Populations Worldwide
@nl
P2093
P2860
P50
P356
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P1476
Analysis of the C9orf72 gene i ...... ifferent populations worldwide
@en
P2093
Alberto García-Redondo
Alberto Lleó
Alexandra Juárez-Rufián
Almudena Rueda
Alvaro Vela
Amaya Álvarez de Arcaya
Ana Gorostidi
Antonio Guerrero
Beatriz Quintáns
C9ORF72 Spanish Study Group
P2860
P356
10.1002/HUMU.22211
P50
P577
2012-10-11T00:00:00Z