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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/pro.5560061001openalex-snapshot
Sequence analysis of the AAA protein family
inferredcites →https://doi.org/10.1006/mgme.2001.3256openalex-snapshot
Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia
inferredcites →https://doi.org/10.1016/j.jsb.2003.11.014openalex-snapshot
Molecular perspectives on p97–VCP: progress in understanding its structure and diverse biological functions
inferredcites →https://doi.org/10.1016/s0006-291x(02)02840-1openalex-snapshot
Hexamerization of p97-VCP is promoted by ATP binding to the D1 domain and required for ATPase and biological activities
inferredcites →https://doi.org/10.1016/s0092-8674(00)81128-9openalex-snapshot
Syntaxin 5 Is a Common Component of the NSF- and p97-Mediated Reassembly Pathways of Golgi Cisternae from Mitotic Golgi Fragments In Vitro
inferredcites →https://doi.org/10.1016/s0092-8674(01)00595-5openalex-snapshot
Mobilization of Processed, Membrane-Tethered SPT23 Transcription Factor by CDC48UFD1/NPL4, a Ubiquitin-Selective Chaperone
inferredcites →https://doi.org/10.1016/s0304-3940(03)00280-5openalex-snapshot
Vacuole-creating protein in neurodegenerative diseases in humans
inferredcites →https://doi.org/10.1016/s0960-8966(03)00070-1openalex-snapshot
Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes
inferredcites →https://doi.org/10.1016/s1097-2765(00)00143-xopenalex-snapshot
Structure of the AAA ATPase p97
inferredcites →https://doi.org/10.1034/j.1600-0854.2002.30602.xopenalex-snapshot
Hassles with Taking Out the Garbage: Aggravating Aggresomes
inferredcites →https://doi.org/10.1034/j.1600-0854.2002.30803.xopenalex-snapshot
Protein Dislocation from the Endoplasmic Reticulum – Pulling Out the Suspect
inferredcites →https://doi.org/10.1038/35087056openalex-snapshot
Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin–proteasome degradation
inferredcites →https://doi.org/10.1038/40411openalex-snapshot
p47 is a cofactor for p97-mediated membrane fusion
inferredcites →https://doi.org/10.1038/ncb1201-1086openalex-snapshot
Distinct AAA-ATPase p97 complexes function in discrete steps of nuclear assembly
inferredcites →https://doi.org/10.1038/ng718openalex-snapshot
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
inferredcites →https://doi.org/10.1038/sj.cdd.4400907openalex-snapshot
VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration
inferredcites →https://doi.org/10.1038/sj.cdd.4400955openalex-snapshot
Identification of ter94, Drosophila VCP, as a modulator of polyglutamine-induced neurodegeneration
inferredcites →https://doi.org/10.1046/j.0305-1846.2003.00518.xopenalex-snapshot
Protein aggregation in motor neurone disorders
inferredcites →https://doi.org/10.1046/j.1365-2990.2001.00335.xopenalex-snapshot
The ubiquitin protein catabolic disorders
inferredcites →https://doi.org/10.1073/pnas.1530212100openalex-snapshot
Ubiquitin-mediated sequestration of normal cellular proteins into polyglutamine aggregates
inferredcites →https://doi.org/10.1074/jbc.m207783200openalex-snapshot
Functional ATPase Activity of p97/Valosin-containing Protein (VCP) Is Required for the Quality Control of Endoplasmic Reticulum in Neuronally Differentiated Mammalian PC12 Cells
inferredcites →https://doi.org/10.1086/302411openalex-snapshot
Mutations in the Human UDP-N-Acetylglucosamine 2-Epimerase Gene Define the Disease Sialuria and the Allosteric Site of the Enzyme
inferredcites →https://doi.org/10.1086/340731openalex-snapshot
Recurrent Mutation of the Gene Encoding sequestosome 1 (SQSTM1/p62) in Paget Disease of Bone
inferredcites →https://doi.org/10.1091/mbc.02-07-0115openalex-snapshot
SVIP Is a Novel VCP/p97-interacting Protein Whose Expression Causes Cell Vacuolation
inferredcites →https://doi.org/10.1093/emboj/19.10.2181openalex-snapshot
A complex of mammalian Ufd1 and Npl4 links the AAA‐ATPase, p97, to ubiquitin and nuclear transport pathways
inferredcites →https://doi.org/10.1093/hmg/11.22.2735openalex-snapshot
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease
inferredcites →https://doi.org/10.1097/00125817-200007000-00006openalex-snapshot
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone
inferredcites →https://doi.org/10.1128/mcb.22.2.626-634.2002openalex-snapshot
AAA-ATPase p97/Cdc48p, a Cytosolic Chaperone Required for Endoplasmic Reticulum-Associated Protein Degradation
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4822916openalex-extracted
ASPL Couples the Assembly and Dissolution of Stress Granules: Implications for Disease
inferred← citeshttps://doi.org/10.1001/archneur.64.1.18openalex-snapshot
Progranulin and Tau Gene Mutations Both as Cause for Dementia
inferred← citeshttps://doi.org/10.1001/archneur.64.10.1388openalex-snapshot
TDP-43 Proteinopathy in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
inferred← citeshttps://doi.org/10.1001/archneur.64.2.240openalex-snapshot
Three Families With Amyotrophic Lateral Sclerosis and Frontotemporal Dementia With Evidence of Linkage to Chromosome 9p
inferred← citeshttps://doi.org/10.1001/archneur.64.4.535openalex-snapshot
Clinical and Psychometric Distinction of Frontotemporal and Alzheimer Dementias
inferred← citeshttps://doi.org/10.1001/archneurol.2010.295openalex-snapshot
Temporoparietal Hypometabolism in Frontotemporal Lobar Degeneration and Associated Imaging Diagnostic Errors
inferred← citeshttps://doi.org/10.1001/archneurol.2010.376openalex-snapshot
Inclusion Body Myopathy With Paget Disease of Bone and Frontotemporal Dementia Linked to VCP p.Arg155Cys in a Korean Family
inferred← citeshttps://doi.org/10.1001/archneurol.2010.82openalex-snapshot
Identification of 2 Loci at Chromosomes 9 and 14 in a Multiplex Family With Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
inferred← citeshttps://doi.org/10.1001/jamaneurol.2013.3956openalex-snapshot
Development and Validation of Pedigree Classification Criteria for Frontotemporal Lobar Degeneration
inferred← citeshttps://doi.org/10.1001/jamaneurol.2016.2215openalex-snapshot
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach
inferred← citeshttps://doi.org/10.1002/0471141755.ph0567s69openalex-snapshot
Rodent Models of Amyotrophic Lateral Sclerosis
inferred← citeshttps://doi.org/10.1002/1873-3468.12091openalex-snapshot
Nucleotide‐dependent conformational changes of the AAA+ ATPase p97 revisited
inferred← citeshttps://doi.org/10.1002/1873-3468.13213openalex-snapshot
The ATP ase VCP /p97 functions as a disaggregase against toxic Huntingtin‐exon1 aggregates
inferred← citeshttps://doi.org/10.1002/1873-3468.13667openalex-snapshot
Crystal structure of the catalytic D2 domain of the AAA+ ATPase p97 reveals a putative helical split‐washer‐type mechanism for substrate unfolding
inferred← citeshttps://doi.org/10.1002/1873-3468.14787openalex-snapshot
The autophagy of stress granules
inferred← citeshttps://doi.org/10.1002/9780470015902.a0024396openalex-snapshot
Molecular Genetics of Paget's Disease of Bone
inferred← citeshttps://doi.org/10.1002/9780470015902.a0024457openalex-snapshot
Molecular Genetics of Frontotemporal Dementia
inferred← citeshttps://doi.org/10.1002/9780470669600.ch57openalex-snapshot
The Frontotemporal Dementia Syndromes
inferred← citeshttps://doi.org/10.1002/9781118635469.ch25openalex-snapshot
Proteins of Autophagy: LAMP‐2, VMA21, VCP, and TRIM32
inferred← citeshttps://doi.org/10.1002/9781118978320.ch9openalex-snapshot
The Lysosome in Aging‐Related Neurodegenerative Diseases
inferred← citeshttps://doi.org/10.1002/9781119017127.ch12openalex-snapshot
A Get‐Together to Tear It Apart
inferred← citeshttps://doi.org/10.1002/9781119099512.ch12openalex-snapshot
Applying Biophysical and Biochemical Methods to the Discovery of Allosteric Modulators of the AAA ATPase p97
inferred← citeshttps://doi.org/10.1002/9781119745532.ch1openalex-snapshot
Clinical Heterogeneity of ALS – Implications for Models and Therapeutic Development
inferred← citeshttps://doi.org/10.1002/9781444341256.ch41openalex-snapshot
Frontotemporal Lobar Degeneration with TDP‐43 Pathology
inferred← citeshttps://doi.org/10.1002/9781444344110.ch6openalex-snapshot
Genetic Risk Factors for Dementia
inferred← citeshttps://doi.org/10.1002/9781444398311.ch14openalex-snapshot
Function and Structure ofVCPMutations Leading to Inclusion‐Body Myopathy Associated with Paget Disease of Bone and Frontotemporal Dementia
inferred← citeshttps://doi.org/10.1002/9781444398311.ch15openalex-snapshot
Clinical Spectrum of VCP Myopathy, Paget Disease, and fronTotemporal Dementia: Experimental Models and Potential Treatments
inferred← citeshttps://doi.org/10.1002/9781444398311.ch16openalex-snapshot
Drosophila and Mouse Models of Hereditary Myopathy Caused by Mutations in VCP/p97
inferred← citeshttps://doi.org/10.1002/9781444398311.ch7openalex-snapshot
Pathogenesis of Sporadic Inclusion‐Body Myositis: Role of Aging and Muscle‐Fiber Degeneration, and Accumulation of the Same Proteins as in Alzheimer and Parkinson Brains
inferred← citeshttps://doi.org/10.1002/9783527619320.ch7bopenalex-snapshot
p97 and Ubiquitin: A Complex Story
inferred← citeshttps://doi.org/10.1002/9783527620227.ch7openalex-snapshot
p97 and Ubiquitin: A Complex Story
inferred← citeshttps://doi.org/10.1002/acn3.51731openalex-snapshot
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
inferred← citeshttps://doi.org/10.1002/acn3.51751openalex-snapshot
Multisystem proteinopathies (MSPs) and MSP‐like disorders: Clinical‐pathological‐molecular spectrum
inferred← citeshttps://doi.org/10.1002/acn3.51760openalex-snapshot
Provisional practice recommendation for the management of myopathy in VCP ‐associated multisystem proteinopathy
inferred← citeshttps://doi.org/10.1002/acn3.52011openalex-snapshot
Nationwide survey of patients with multisystem proteinopathy in Japan
inferred← citeshttps://doi.org/10.1002/acn3.70064openalex-snapshot
Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
inferred← citeshttps://doi.org/10.1002/ajmg.a.31008openalex-snapshot
Manifestations in a family with autosomal dominant bone fragility and limb‐girdle myopathy
inferred← citeshttps://doi.org/10.1002/ajmg.a.31862openalex-snapshot
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
inferred← citeshttps://doi.org/10.1002/ajmg.b.32080openalex-snapshot
Genetics of dementia: Update and guidelines for the clinician
inferred← citeshttps://doi.org/10.1002/alz.12011openalex-snapshot
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases
inferred← citeshttps://doi.org/10.1002/alz.14215openalex-snapshot
Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia
inferred← citeshttps://doi.org/10.1002/alz.70845openalex-snapshot
Shared genes and pathways in dementia: Insights from genome‐wide association studies
inferred← citeshttps://doi.org/10.1002/ana.20407openalex-snapshot
Mutant valosin‐containing protein causes a novel type of frontotemporal dementia
inferred← citeshttps://doi.org/10.1002/ana.20873openalex-snapshot
Frontotemporal dementia: Clinicopathological correlations
inferred← citeshttps://doi.org/10.1002/ana.21397openalex-snapshot
Gene expression study on peripheral blood identifies progranulin mutations
inferred← citeshttps://doi.org/10.1002/ana.21425openalex-snapshot
Phosphorylated TDP‐43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1002/ana.21426openalex-snapshot
Frontotemporal dementia and related disorders: Deciphering the enigma
inferred← citeshttps://doi.org/10.1002/ana.21621openalex-snapshot
Serum biomarker for progranulin‐associated frontotemporal lobar degeneration
inferred← citeshttps://doi.org/10.1002/ana.22683openalex-snapshot
Exome sequencing reveals DNAJB6 mutations in dominantly‐inherited myopathy
inferred← citeshttps://doi.org/10.1002/ana.23722openalex-snapshot
Mouse models of frontotemporal dementia
inferred← citeshttps://doi.org/10.1002/ana.24847openalex-snapshot
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis
inferred← citeshttps://doi.org/10.1002/ana.26136openalex-snapshot
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant
inferred← citeshttps://doi.org/10.1002/ange.202009767openalex-snapshot
Probing Cooperativity of N‐Terminal Domain Orientations in the p97 Molecular Machine: Synergy Between NMR Spectroscopy and Cryo‐EM
inferred← citeshttps://doi.org/10.1002/anie.202009767openalex-snapshot
Probing Cooperativity of N‐Terminal Domain Orientations in the p97 Molecular Machine: Synergy Between NMR Spectroscopy and Cryo‐EM
inferred← citeshttps://doi.org/10.1002/ctm2.70530openalex-snapshot
Antisense oligonucleotides targeting valosin‐containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy
inferred← citeshttps://doi.org/10.1002/gps.5535openalex-snapshot
Genetic testing in dementia‐A medical genetics perspective
inferred← citeshttps://doi.org/10.1002/humu.20520openalex-snapshot
Progranulin null mutations in both sporadic and familial frontotemporal dementia
inferred← citeshttps://doi.org/10.1002/humu.22032openalex-snapshot
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
inferred← citeshttps://doi.org/10.1002/humu.22303openalex-snapshot
Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants
inferred← citeshttps://doi.org/10.1002/humu.23161openalex-snapshot
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
inferred← citeshttps://doi.org/10.1002/humu.9484openalex-snapshot
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia
inferred← citeshttps://doi.org/10.1002/iub.189openalex-snapshot
Oxidized proteins: Mechanisms of removal and consequences of accumulation
inferred← citeshttps://doi.org/10.1002/iub.520openalex-snapshot
Stress signaling from the endoplasmic reticulum: A central player in the pathogenesis of amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1002/jbmr.1668openalex-snapshot
Autophagy: A new player in skeletal maintenance?
inferred← citeshttps://doi.org/10.1002/jbmr.1750openalex-snapshot
Giant cell tumor occurring in familial Paget's disease of bone: Report of clinical characteristics and linkage analysis of a large pedigree
inferred← citeshttps://doi.org/10.1002/jbmr.3657openalex-snapshot
Diagnosis and Management of Paget's Disease of Bone in Adults: A Clinical Guideline
inferred← citeshttps://doi.org/10.1002/jbmr.4275openalex-snapshot
Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors
inferred← citeshttps://doi.org/10.1002/jcp.24348openalex-snapshot
Oxygen‐induced transcriptional dynamics in human osteoblasts are most prominent at the onset of mineralization
inferred← citeshttps://doi.org/10.1002/jcp.27071openalex-snapshot
Autophagy plays an essential role in bone homeostasis
inferred← citeshttps://doi.org/10.1002/jcsm.13011openalex-snapshot
The p97‐Nploc4 ATPase complex plays a role in muscle atrophy during cancer and amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1002/jimd.12756openalex-snapshot
Conserved quality control mechanisms of mitochondrial protein import
inferred← citeshttps://doi.org/10.1002/jnr.70046openalex-snapshot
Alzheimer's Disease and Frontotemporal Dementia: A Review of Pathophysiology and Therapeutic Approaches
inferred← citeshttps://doi.org/10.1002/mdc3.13165openalex-snapshot
Challenges in Clinicogenetic Correlations: One Gene – Many Phenotypes
inferred← citeshttps://doi.org/10.1002/mds.28857openalex-snapshot
A Novel TFG Mutation in a Korean Family with α‐Synucleinopathy and Amyotrophic Lateral Sclerosis
inferred← citeshttps://doi.org/10.1002/mgg3.2176openalex-snapshot
Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP ‐related multisystem proteinopathy
inferred← citeshttps://doi.org/10.1002/mus.20691openalex-snapshot
Unfolded protein response and aggresome formation in hereditary reducing‐body myopathy
inferred← citeshttps://doi.org/10.1002/mus.20766openalex-snapshot
Genetics of inclusion‐body myositis
inferred← citeshttps://doi.org/10.1002/mus.20823openalex-snapshot
Nuclear localization of valosin‐containing protein in normal muscle and muscle affected by inclusion‐body myositis
inferred← citeshttps://doi.org/10.1002/mus.20890openalex-snapshot
An Italian family with inclusion‐body myopathy and frontotemporal dementia due to mutation in the VCP gene
inferred← citeshttps://doi.org/10.1002/mus.21225openalex-snapshot
A novel mutation in the VCP gene (G157R) in a german family with inclusion‐body myopathy with paget disease of bone and frontotemporal dementia
inferred← citeshttps://doi.org/10.1002/mus.22020openalex-snapshot
Axonal hyperpolarization in inclusion‐body myopathy, paget disease of the bone, and frontotemporal dementia (IBMPFD)
inferred← citeshttps://doi.org/10.1002/mus.23522openalex-snapshot
A progressive translational mouse model of human valosin‐containing protein disease: The VCPR155H/+ mouse
inferred← citeshttps://doi.org/10.1002/mus.24290openalex-snapshot
A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers
inferred← citeshttps://doi.org/10.1002/mus.24980openalex-snapshot
Clinical spectrum of valosin containing protein ( VCP )‐opathy
inferred← citeshttps://doi.org/10.1002/mus.25073openalex-snapshot
Late‐onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin‐containing protein
inferred← citeshttps://doi.org/10.1002/mus.25400openalex-snapshot
Ethical issues in the evaluation of adults with suspected genetic neuromuscular disorders
inferred← citeshttps://doi.org/10.1002/mus.26389openalex-snapshot
VCP myopathy: A family with unusual clinical manifestations
inferred← citeshttps://doi.org/10.1002/mus.26692openalex-snapshot
TFG: At the crossroads of motor neuron disease and myopathy
inferred← citeshttps://doi.org/10.1002/mus.26914openalex-snapshot
Myopathies with finger flexor weakness: Not only inclusion‐body myositis
inferred← citeshttps://doi.org/10.1002/mus.27097openalex-snapshot
Multisystem proteinopathy: Where myopathy and motor neuron disease converge
inferred← citeshttps://doi.org/10.1002/wrna.1689openalex-snapshot
A (dis)integrated stress response: Genetic diseases of eIF2α regulators
inferred← citeshttps://doi.org/10.1007/2789_2008_101openalex-snapshot
Less Is More: How Protein Degradation Regulates Muscle Development
inferred← citeshttps://doi.org/10.1007/978-1-4471-2745-1_12openalex-snapshot
Paget’s Disease of Bone: Pathogenesis and Treatment
inferred← citeshttps://doi.org/10.1007/978-1-4471-6380-0_11openalex-snapshot
Amyotrophic Lateral Sclerosis: Genotypes and Phenotypes
inferred← citeshttps://doi.org/10.1007/978-1-4471-6380-0_7openalex-snapshot
Frontotemporal Lobar Degeneration: Genetics and Clinical Phenotypes
inferred← citeshttps://doi.org/10.1007/978-1-4471-6380-0_8openalex-snapshot
Alzheimer’s Disease and Frontotemporal Lobar Degeneration: Mouse Models
inferred← citeshttps://doi.org/10.1007/978-1-4614-0653-2_9openalex-snapshot
Frontotemporal Lobar Degeneration
inferred← citeshttps://doi.org/10.1007/978-1-4939-3995-4_15openalex-snapshot
Fractal Analysis in Neurodegenerative Diseases
inferred← citeshttps://doi.org/10.1007/978-1-60761-744-0_1openalex-snapshot
Contemporary Approaches to Alzheimer’s Disease and Frontotemporal Dementia
inferred← citeshttps://doi.org/10.1007/978-1-60761-898-0_28openalex-snapshot
Animal Models of Frontotemporal Dementia
inferred← citeshttps://doi.org/10.1007/978-1-60761-898-0_7openalex-snapshot
Pathological Validation of Animal Models of Dementia
inferred← citeshttps://doi.org/10.1007/978-3-030-38266-7_10openalex-snapshot
Machado–Joseph Disease: A Stress Combating Deubiquitylating Enzyme Changing Sides
inferred← citeshttps://doi.org/10.1007/978-3-030-51140-1_17openalex-snapshot
Mendelian and Sporadic FTD: Disease Risk and Avenues from Genetics to Disease Pathways Through In Silico Modelling
inferred← citeshttps://doi.org/10.1007/978-3-030-61883-4_20openalex-snapshot
Immune and Inflammatory Myopathies
inferred← citeshttps://doi.org/10.1007/978-3-030-82367-2_26openalex-snapshot
Behavioral Variant Frontotemporal Dementia
inferred← citeshttps://doi.org/10.1007/978-3-031-44009-0_8openalex-snapshot
Distal Muscular Dystrophies
inferred← citeshttps://doi.org/10.1007/978-3-031-47606-8_18openalex-snapshot
Fractal Analysis in Neurodegenerative Diseases
inferred← citeshttps://doi.org/10.1007/978-3-031-58843-3_18openalex-snapshot
Valosin-Containing Protein (VCP)/p97 Oligomerization
inferred← citeshttps://doi.org/10.1007/978-3-319-13939-5_4openalex-snapshot
Dual Role of Autophagy in Neurodegenerative Diseases: The Case of Amyotrophic Lateral Sclerosis
inferred← citeshttps://doi.org/10.1007/978-3-319-17223-1_5openalex-snapshot
Genetics of Frontotemporal Dementia
inferred← citeshttps://doi.org/10.1007/978-3-319-72938-1_10openalex-snapshot
Alzheimer’s Disease and Frontotemporal Lobar Degeneration: Mouse Models
inferred← citeshttps://doi.org/10.1007/978-3-319-72938-1_8openalex-snapshot
Autosomal Dominant Frontotemporal Lobar Degeneration: From Genotype to Phenotype
inferred← citeshttps://doi.org/10.1007/978-3-319-72938-1_9openalex-snapshot
Genetic Risk Factors for Sporadic Frontotemporal Dementia
inferred← citeshttps://doi.org/10.1007/978-3-319-75479-6_9-1openalex-snapshot
Neurodegenerative Diseases and Psychosocial Impairment
inferred← citeshttps://doi.org/10.1007/978-3-319-75922-7_9openalex-snapshot
Neurodegenerative Diseases and Psychosocial Impairment
inferred← citeshttps://doi.org/10.1007/978-3-642-04566-0_42openalex-snapshot
Genetische Skeletterkrankungen und Entwicklungsstörungen
inferred← citeshttps://doi.org/10.1007/978-4-431-53871-4_17openalex-snapshot
AD-FTLD Spectrum: New Understanding of the Neurodegenerative Process from the Study of Risk Genes
inferred← citeshttps://doi.org/10.1007/978-4-431-54541-5_6openalex-snapshot
Genetic Risk Factors for Neurodegenerative Diseases
inferred← citeshttps://doi.org/10.1007/978-4-431-55651-0openalex-snapshot
Innovative Medicine: Basic Research and Development
inferred← citeshttps://doi.org/10.1007/978-4-431-55651-0_5openalex-snapshot
VCP, a Major ATPase in the Cells, as a Novel Drug Target for Currently Incurable Disorders
inferred← citeshttps://doi.org/10.1007/978-94-007-4351-9_13openalex-snapshot
Role of ER Stress in Dysfunction of the Nervous System
inferred← citeshttps://doi.org/10.1007/978-94-007-4351-9_14openalex-snapshot
Endoplasmic Reticulum (ER) Stress in Amyotrophic Lateral Sclerosis (ALS)
inferred← citeshttps://doi.org/10.1007/978-94-007-5940-4_8openalex-snapshot
Roles of Cdc48 in Regulated Protein Degradation in Yeast
inferred← citeshttps://doi.org/10.1007/978-981-13-0529-0_6openalex-snapshot
Amyotrophic Lateral Sclerosis Model
inferred← citeshttps://doi.org/10.1007/978-981-13-3585-3_4openalex-snapshot
Polyglucosan Bodies in Aged Brain and Neurodegeneration: Cause or Consequence?
inferred← citeshttps://doi.org/10.1007/978-981-96-6202-9_8openalex-snapshot
Biomarkers for Proteostasis Disruption: An Overview
inferred← citeshttps://doi.org/10.1007/s00018-013-1409-yopenalex-snapshot
Nrf2 and Nrf1 signaling and ER stress crosstalk: implication for proteasomal degradation and autophagy
inferred← citeshttps://doi.org/10.1007/s00018-013-1543-6openalex-snapshot
Yeast prions and human prion-like proteins: sequence features and prediction methods
inferred← citeshttps://doi.org/10.1007/s00018-020-03662-0openalex-snapshot
The connection between the dynamic remodeling of the mitochondrial network and the regulation of muscle mass
inferred← citeshttps://doi.org/10.1007/s00018-023-04863-zopenalex-snapshot
DUSP1 interacts with and dephosphorylates VCP to improve mitochondrial quality control against endotoxemia-induced myocardial dysfunction
inferred← citeshttps://doi.org/10.1007/s00018-025-05883-7openalex-snapshot
Lysosome heterogeneity and diversity mapped through its distinct cellular functions
inferred← citeshttps://doi.org/10.1007/s00068-008-8208-4openalex-snapshot
The Second Most Common Bone Disease: A Review on Paget’s Disease of Bone
inferred← citeshttps://doi.org/10.1007/s00132-012-1935-6openalex-snapshot
Multilokulärer Morbus Paget bei IBMPFD-Syndrom
inferred← citeshttps://doi.org/10.1007/s00198-010-1272-8openalex-snapshot
New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis
inferred← citeshttps://doi.org/10.1007/s00223-012-9599-0openalex-snapshot
Pathogenesis of Paget Disease of Bone
inferred← citeshttps://doi.org/10.1007/s00223-017-0269-0openalex-snapshot
Familial Early-Onset Paget’s Disease of Bone Associated with a Novel hnRNPA2B1 Mutation
inferred← citeshttps://doi.org/10.1007/s00223-019-00520-5openalex-snapshot
Rare Inherited forms of Paget’s Disease and Related Syndromes
inferred← citeshttps://doi.org/10.1007/s00223-019-00556-7openalex-snapshot
Focal and Osteosclerotic Bone Diseases
inferred← citeshttps://doi.org/10.1007/s00223-021-00881-wopenalex-snapshot
A Panel-Based Sequencing Analysis of Patients with Paget’s Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus
inferred← citeshttps://doi.org/10.1007/s00223-021-00929-xopenalex-snapshot
Clinical, Biochemical, Radiological, and Genetic Analyses of a Patient with VCP Gene Variant-Induced Paget’s Disease of Bone
inferred← citeshttps://doi.org/10.1007/s00256-011-1193-4openalex-snapshot
Radiological features of Paget disease of bone associated with VCP myopathy
inferred← citeshttps://doi.org/10.1007/s00335-008-9117-xopenalex-snapshot
TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander
inferred← citeshttps://doi.org/10.1007/s00401-005-1079-4openalex-snapshot
Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation
inferred← citeshttps://doi.org/10.1007/s00401-006-0178-1openalex-snapshot
Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions
inferred← citeshttps://doi.org/10.1007/s00401-006-0182-5openalex-snapshot
The novel Tau mutation G335S: clinical, neuropathological and molecular characterization
inferred← citeshttps://doi.org/10.1007/s00401-007-0224-7openalex-snapshot
Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy
inferred← citeshttps://doi.org/10.1007/s00401-007-0237-2openalex-snapshot
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration
inferred← citeshttps://doi.org/10.1007/s00401-007-0241-6openalex-snapshot
Progranulin and frontotemporal lobar degeneration
inferred← citeshttps://doi.org/10.1007/s00401-008-0477-9openalex-snapshot
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies
inferred← citeshttps://doi.org/10.1007/s00401-008-0480-1openalex-snapshot
Phosphorylated TDP-43 in Alzheimer’s disease and dementia with Lewy bodies
inferred← citeshttps://doi.org/10.1007/s00401-009-0571-7openalex-snapshot
TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy
inferred← citeshttps://doi.org/10.1007/s00401-010-0698-6openalex-snapshot
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
inferred← citeshttps://doi.org/10.1007/s00401-011-0839-6openalex-snapshot
Neuropathological background of phenotypical variability in frontotemporal dementia
inferred← citeshttps://doi.org/10.1007/s00401-011-0842-yopenalex-snapshot
Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation
inferred← citeshttps://doi.org/10.1007/s00401-011-0921-0openalex-snapshot
Neurodegeneration as a consequence of failed mitochondrial maintenance
inferred← citeshttps://doi.org/10.1007/s00401-012-1029-xopenalex-snapshot
The genetics and neuropathology of frontotemporal lobar degeneration
inferred← citeshttps://doi.org/10.1007/s00401-012-1030-4openalex-snapshot
Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects
inferred← citeshttps://doi.org/10.1007/s00401-012-1048-7openalex-snapshot
Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion
inferred← citeshttps://doi.org/10.1007/s00401-013-1088-7openalex-snapshot
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
inferred← citeshttps://doi.org/10.1007/s00401-013-1090-0openalex-snapshot
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
inferred← citeshttps://doi.org/10.1007/s00401-013-1123-8openalex-snapshot
Robust cytoplasmic accumulation of phosphorylated TDP-43 in transgenic models of tauopathy
inferred← citeshttps://doi.org/10.1007/s00401-013-1149-yopenalex-snapshot
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
inferred← citeshttps://doi.org/10.1007/s00401-013-1238-yopenalex-snapshot
Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD)
inferred← citeshttps://doi.org/10.1007/s00401-013-1239-xopenalex-snapshot
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
inferred← citeshttps://doi.org/10.1007/s00401-014-1262-6openalex-snapshot
Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis
inferred← citeshttps://doi.org/10.1007/s00401-014-1298-7openalex-snapshot
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
inferred← citeshttps://doi.org/10.1007/s00401-014-1380-1openalex-snapshot
Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine
inferred← citeshttps://doi.org/10.1007/s00401-016-1610-9openalex-snapshot
What we know about TMEM106B in neurodegeneration
inferred← citeshttps://doi.org/10.1007/s00401-017-1709-7openalex-snapshot
Interactions of pathological proteins in neurodegenerative diseases
inferred← citeshttps://doi.org/10.1007/s00401-018-1951-7openalex-snapshot
Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains
inferred← citeshttps://doi.org/10.1007/s00401-019-01962-9openalex-snapshot
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD
inferred← citeshttps://doi.org/10.1007/s00401-019-02077-xopenalex-snapshot
The basis of clinicopathological heterogeneity in TDP-43 proteinopathy
inferred← citeshttps://doi.org/10.1007/s00401-023-02565-1openalex-snapshot
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
inferred← citeshttps://doi.org/10.1007/s00401-024-02741-xopenalex-snapshot
Tau filaments with the chronic traumatic encephalopathy fold in a case of vacuolar tauopathy with VCP mutation D395G
inferred← citeshttps://doi.org/10.1007/s00415-011-5966-4openalex-snapshot
A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes
inferred← citeshttps://doi.org/10.1007/s00415-012-6507-5openalex-snapshot
Frontotemporal lobar degeneration: current knowledge and future challenges
inferred← citeshttps://doi.org/10.1007/s00415-013-7112-yopenalex-snapshot
Amyotrophic lateral sclerosis: an update on recent genetic insights
inferred← citeshttps://doi.org/10.1007/s00415-017-8467-2openalex-snapshot
Parkinsonism in a patient with valosin-containing protein gene mutation showing: a case report
inferred← citeshttps://doi.org/10.1007/s00415-023-11862-4openalex-snapshot
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
inferred← citeshttps://doi.org/10.1007/s00415-024-12462-6openalex-snapshot
The various forms of hereditary motor neuron disorders and their historical descriptions
inferred← citeshttps://doi.org/10.1007/s00415-024-12485-zopenalex-snapshot
Aberrant protein aggregation in amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1007/s00439-005-0075-zopenalex-snapshot
Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome
inferred← citeshttps://doi.org/10.1007/s00439-015-1536-7openalex-snapshot
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology
inferred← citeshttps://doi.org/10.1007/s00439-017-1802-yopenalex-snapshot
Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders
inferred← citeshttps://doi.org/10.1007/s00702-011-0649-yopenalex-snapshot
Fronto-temporal lobar degeneration: neuropathology in 60 cases
inferred← citeshttps://doi.org/10.1007/s00702-012-0804-0openalex-snapshot
Clinical phenotypes and genetic biomarkers of FTLD
inferred← citeshttps://doi.org/10.1007/s00774-006-0696-xopenalex-snapshot
Guidelines for diagnosis and management of Paget's disease of bone in Japan
inferred← citeshttps://doi.org/10.1007/s10048-007-0102-4openalex-snapshot
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments
inferred← citeshttps://doi.org/10.1007/s10048-008-0127-3openalex-snapshot
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series
inferred← citeshttps://doi.org/10.1007/s10067-017-3913-1openalex-snapshot
A Brazilian family with inclusion body myopathy associated with Paget’s disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation
inferred← citeshttps://doi.org/10.1007/s10072-009-0132-9openalex-snapshot
Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia
inferred← citeshttps://doi.org/10.1007/s10072-011-0865-0openalex-snapshot
Prevalence of frontotemporal lobar degeneration in an isolated population: the Vallecamonica study
inferred← citeshttps://doi.org/10.1007/s10142-019-00714-yopenalex-snapshot
Membrane proteomic analysis reveals the intestinal development is deteriorated by intrauterine growth restriction in piglets
inferred← citeshttps://doi.org/10.1007/s10495-007-0758-0openalex-snapshot
The mitochondrial pathway in yeast apoptosis
inferred← citeshttps://doi.org/10.1007/s10753-016-0449-5openalex-snapshot
RETRACTED ARTICLE: Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy
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