The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.
about
Clinical and genetic basis of familial amyotrophic lateral sclerosisC9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseasesSpinocerebellar ataxia type 36 in the Han ChineseScreening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansionDrosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion casesCognitive Impairment in Chinese Patients with Sporadic Amyotrophic Lateral Sclerosis.Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death.Behavioral Symptoms in Motor Neuron Disease and Their Negative Impact on Caregiver BurdenCognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Dementia in motor neuron disease: Reviewing the role of MRI in diagnosis.Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.Theme 9 Genetics
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The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.
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type
label
The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.
@en
prefLabel
The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.
@en
P2860
P1476
The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues
@en
P2093
Simon Mead
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P2888
P304
P356
10.1007/S00401-014-1253-7
P577
2014-02-11T00:00:00Z
P6179
1010161552