A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
about
Dysfunctions of neuronal and glial intermediate filaments in diseaseClinical and genetic basis of familial amyotrophic lateral sclerosisEmerging mechanisms of molecular pathology in ALSA two-hybrid screen identifies an unconventional role for the intermediate filament peripherin in regulating the subcellular distribution of the SNAP25-interacting protein, SIP30Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates.Global gene expression profiling of somatic motor neuron populations with different vulnerability identify molecules and pathways of degeneration and protectionCharcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.Genetic rodent models of amyotrophic lateral sclerosisFunctional interaction between amyloid-β precursor protein and peripherin neurofilaments: a shared pathway leading to Alzheimer's disease and amyotrophic lateral sclerosis?Intermediate filaments and vesicular membrane traffic: the odd couple's first dance?Peripherin is a subunit of peripheral nerve neurofilaments: implications for differential vulnerability of CNS and peripheral nervous system axons.Role of zinc in ALS.Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives.RNA processing pathways in amyotrophic lateral sclerosis.Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology.The genetics and neuropathology of amyotrophic lateral sclerosis.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing.Neurofilaments and Neurofilament Proteins in Health and Disease.TDP-43 and Cytoskeletal Proteins in ALS.Motoneuron Disease: Basic Science.A novel peripherin isoform generated by alternative translation is required for normal filament network formation.Identification of 17 Highly Expressed Genes within Mouse Lumbar Spinal Cord Anterior Horn Region from an In-Situ Hybridization Atlas of 3430 Genes: Implications for Motor Neuron Disease.Distinct biochemical signatures characterize peripherin isoform expression in both traumatic neuronal injury and motor neuron disease.Familial Amyotrophic Lateral Sclerosis.
P2860
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P2860
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
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2004年学术文章
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2004年学术文章
@zh-cn
2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年學術文章
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name
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
@ast
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
@en
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
@nl
type
label
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
@ast
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
@en
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
@nl
prefLabel
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
@ast
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
@en
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
@nl
P2093
P1433
P1476
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
@en
P2093
Arthur P Hays
Conrad L Leung
Cui Zhen He
Petra Kaufmann
Ronald K H Liem
Steven S Chin
P304
P356
10.1111/J.1750-3639.2004.TB00066.X
P577
2004-07-01T00:00:00Z