Motor neuron involvement in multisystem proteinopathy: implications for ALS

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Motor neuron involvement in multisystem proteinopathy: implications for ALS is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1212/WNL.0B013E3182929FC3
P932PMC publication ID3908355
P698PubMed publication ID23635965

P50authorJ Paul TaylorQ55711783
Björn OskarssonQ59878166
Conrad C WeihlQ114404424
P2093author name stringMichael Benatar
Joanne Wuu
Heather Katzen
Julie Steele
Catalina Fernandez
P2860cites workValosin-containing protein mutation and Parkinson's disease.Q53227955
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.Q53292162
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locusQ55880075
A new familial disorder of combined lower motor neuron degeneration and skeletal disorganizationQ57462583
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP geneQ58050234
Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigreeQ64445119
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of boneQ73625727
ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survivalQ84434639
Prolonged survival in motor neuron disease: a descriptive study of the King's database 1990-2002Q22306532
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALSQ24629495
Exome sequencing reveals VCP mutations as a cause of familial ALSQ24631513
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisQ28270779
Cell-free formation of RNA granules: low complexity sequence domains form dynamic fibers within hydrogelsQ29614781
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosisQ29616311
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosisQ29619074
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinQ29619232
Mutational analysis of the VCP gene in Parkinson's diseaseQ35566788
Phenotypic variability in three families with valosin-containing protein mutation.Q37072776
TDP-43 A315T mutation in familial motor neuron diseaseQ37354490
Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementiaQ37452177
ALS motor phenotype heterogeneity, focality, and spread: deconstructing motor neuron degenerationQ37593829
RNA-binding proteins with prion-like domains in ALS and FTLD-U.Q37918720
Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies.Q39349822
TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementiaQ41667459
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findingsQ43119772
Characterization of the Asian myopathy patients with VCP mutationsQ43488914
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophyQ43916486
A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementiaQ46126082
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutationsQ48284829
Hereditary spastic paraplegia caused by a mutation in the VCP geneQ48370935
Pathological consequences of VCP mutations on human striated muscleQ48418017
Valosin-containing protein gene mutations: clinical and neuropathologic featuresQ48491139
P433issue20
P407language of work or nameEnglishQ1860
P921main subjectamyotrophic lateral sclerosisQ206901
multisystem proteinopathyQ17126319
P1104number of pages7
P304page(s)1874-1880
P577publication date2013-05-01
P1433published inNeurologyQ1161692
P1476titleMotor neuron involvement in multisystem proteinopathy: implications for ALS
P478volume80

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cites work (P2860)
Q42062922A case of familial ALS due to multi-system proteinopathy 1 and Huntington disease
Q53050086A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers.
Q64060839Aberrant Phase Transitions: Side Effects and Novel Therapeutic Strategies in Human Disease
Q46130574Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria.
Q50350613Biology and Pathobiology of TDP-43 and Emergent Therapeutic Strategies.
Q38635213Clinical spectrum of valosin containing protein (VCP)-opathy
Q37599978Disease mutations in the prion-like domains of hnRNPA1 and hnRNPA2/B1 introduce potent steric zippers that drive excess RNP granule assembly.
Q35018480Exercise training reverses skeletal muscle atrophy in an experimental model of VCP disease
Q54158931Familial Amyotrophic Lateral Sclerosis.
Q38260359Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges
Q38814847Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic
Q46046794Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy.
Q34979278Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant
Q36733879Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation
Q52885717Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein.
Q39413091Motoneuron Disease: Basic Science
Q33894661Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy
Q28080241Mutations in the Human AAA+ Chaperone p97 and Related Diseases
Q38701291New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis
Q88250882New Developments in the Genetics of Inclusion Body Myositis
Q38170010New insight into neurodegeneration: the role of proteomics
Q26782984Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia
Q38838008Presymptomatic ALS genetic counseling and testing: Experience and recommendations
Q33653996Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum
Q39227676RNA-binding proteins with prion-like domains in health and disease
Q28119072Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation
Q46958756The Genetics of Monogenic Frontotemporal Dementia
Q34178673The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis.
Q38825197The clinical spectrum of sporadic and familial forms of frontotemporal dementia.
Q38778723The frontotemporal dementia-motor neuron disease continuum
Q39505690Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker
Q26764950Toward precision medicine in amyotrophic lateral sclerosis

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