Phenotypic variability in three families with valosin-containing protein mutation.
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Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson diseaseMotor neuron involvement in multisystem proteinopathy: implications for ALSParkinsonian syndrome in familial frontotemporal dementiaVCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations.Involvement of peripheral and central nervous systems in a valosin-containing protein mutation.The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis.Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutantAsymmetric pathology in primary progressive aphasia with progranulin mutations and TDP inclusions.The Ankrd13 Family of Ubiquitin-interacting Motif-bearing Proteins Regulates Valosin-containing Protein/p97 Protein-mediated Lysosomal Trafficking of Caveolin 1.Disease mutations in the prion-like domains of hnRNPA1 and hnRNPA2/B1 introduce potent steric zippers that drive excess RNP granule assembly.Clinical spectrum of valosin containing protein (VCP)-opathy.Parkinsonism, movement disorders and genetics in frontotemporal dementia.Genetics of FTLD: overview and what else we can expect from genetic studies.Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy.215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.Time Course of Radiological Imaging and Variable Interindividual Symptoms in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated with p.Arg487His Mutation in the VCP Gene.Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein.
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Phenotypic variability in three families with valosin-containing protein mutation.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 20 August 2012
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Phenotypic variability in three families with valosin-containing protein mutation.
@en
Phenotypic variability in three families with valosin-containing protein mutation.
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type
label
Phenotypic variability in three families with valosin-containing protein mutation.
@en
Phenotypic variability in three families with valosin-containing protein mutation.
@nl
prefLabel
Phenotypic variability in three families with valosin-containing protein mutation.
@en
Phenotypic variability in three families with valosin-containing protein mutation.
@nl
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Phenotypic variability in three families with valosin-containing protein mutation
@en
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A D Van Laar
F Epperson
J K Kofler
J R Murrell
M R Farlow
R L Hamilton
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P304
P356
10.1111/J.1468-1331.2012.03831.X
P577
2012-08-20T00:00:00Z