Published in Am J Med Genet A on March 15, 2008
Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron (2010) 7.87
VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy (2010) 2.99
Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. Neuromuscul Disord (2009) 1.94
Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management. CNS Drugs (2010) 1.72
VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations. Neuron (2013) 1.70
The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol (2012) 1.42
VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One (2010) 1.34
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. Neuromuscul Disord (2009) 1.23
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin Genet (2012) 1.22
Motor neuron involvement in multisystem proteinopathy: implications for ALS. Neurology (2013) 1.08
Altered intersubunit communication is the molecular basis for functional defects of pathogenic p97 mutants. J Biol Chem (2013) 0.99
A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse. Muscle Nerve (2012) 0.96
Phenotypic variability in three families with valosin-containing protein mutation. Eur J Neurol (2012) 0.94
Frontotemporal dementia: a bridge between dementia and neuromuscular disease. Ann N Y Acad Sci (2014) 0.93
Principles and Properties of Stress Granules. Trends Cell Biol (2016) 0.92
Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice. Cell Death Dis (2012) 0.92
Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis. Curr Alzheimer Res (2011) 0.91
Valosin-containing protein and neurofibromin interact to regulate dendritic spine density. J Clin Invest (2011) 0.91
Structural and functional deviations in disease-associated p97 mutants. J Struct Biol (2012) 0.90
Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy. PLoS One (2015) 0.87
The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology. PLoS One (2012) 0.87
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Brain (2014) 0.86
Global gene profiling of VCP-associated inclusion body myopathy. Clin Transl Sci (2012) 0.83
Heteromeric p97/p97R155C complexes induce dominant negative changes in wild-type and autophagy 9-deficient Dictyostelium strains. PLoS One (2012) 0.82
VCP-dependent muscle degeneration is linked to defects in a dynamic tubular lysosomal network in vivo. Elife (2015) 0.82
Muscle MRI in muscular dystrophies. Acta Myol (2015) 0.80
From neurodevelopment to neurodegeneration: the interaction of neurofibromin and valosin-containing protein/p97 in regulation of dendritic spine formation. J Biomed Sci (2012) 0.80
Radiological features of Paget disease of bone associated with VCP myopathy. Skeletal Radiol (2011) 0.80
Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease. Hum Mol Genet (2013) 0.79
Exercise training reverses skeletal muscle atrophy in an experimental model of VCP disease. PLoS One (2013) 0.79
Insights into muscle degeneration from heritable inclusion body myopathies. Front Aging Neurosci (2015) 0.79
Paget's disease of bone-genetic and environmental factors. Nat Rev Endocrinol (2015) 0.78
Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy. Inflammation (2016) 0.78
Mutations in the Human AAA(+) Chaperone p97 and Related Diseases. Front Mol Biosci (2016) 0.78
Derlin-1 regulates mutant VCP-linked pathogenesis and endoplasmic reticulum stress-induced apoptosis. PLoS Genet (2014) 0.77
Regulation of mitochondrial genome inheritance by autophagy and ubiquitin-proteasome system: implications for health, fitness, and fertility. Biomed Res Int (2014) 0.77
A network of RNA and protein interactions in Fronto Temporal Dementia. Front Mol Neurosci (2015) 0.77
Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation. Neurol Genet (2015) 0.76
Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. J Clin Neurol (2014) 0.75
Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease. Hum Gene Ther Methods (2015) 0.75
Inclusion body myositis - pathomechanism and lessons from genetics. Open Med (Wars) (2015) 0.75
Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants. Elife (2017) 0.75
A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy. PLoS One (2015) 0.75
Autophagy in Dictyostelium: Mechanisms, regulation and disease in a simple biomedical model. Autophagy (2016) 0.75
Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery. PLoS One (2017) 0.75
Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol (2001) 9.96
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet (2004) 7.84
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci U S A (1998) 6.13
Mobilization of processed, membrane-tethered SPT23 transcription factor by CDC48(UFD1/NPL4), a ubiquitin-selective chaperone. Cell (2001) 3.62
Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation. Nat Cell Biol (2001) 3.15
Involvement of valosin-containing protein, an ATPase Co-purified with IkappaBalpha and 26 S proteasome, in ubiquitin-proteasome-mediated degradation of IkappaBalpha. J Biol Chem (1998) 2.80
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol (2006) 2.43
Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology (2006) 2.00
Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol (2005) 1.94
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain (2006) 1.86
Difference in expression of phosphorylated tau epitopes between sporadic inclusion-body myositis and hereditary inclusion-body myopathies. J Neuropathol Exp Neurol (1996) 1.82
Sequence analysis of the AAA protein family. Protein Sci (1997) 1.75
beta-Amyloid precursor epitopes in muscle fibers of inclusion body myositis. Ann Neurol (1993) 1.49
p97, a protein coping with multiple identities. J Cell Sci (2003) 1.45
Hexamerization of p97-VCP is promoted by ATP binding to the D1 domain and required for ATPase and biological activities. Biochem Biophys Res Commun (2003) 1.38
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. Mol Genet Metab (2001) 1.38
VCP (p97) regulates NFkappaB signaling pathway, which is important for metastasis of osteosarcoma cell line. Jpn J Cancer Res (2002) 1.31
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology (2005) 1.28
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med (2001) 1.22
Inclusion-body myositis: newest concepts of pathogenesis and relation to aging and Alzheimer disease. J Neuropathol Exp Neurol (2001) 1.22
A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations. Neurology (1997) 1.14
Sporadic inclusion-body myositis and its similarities to Alzheimer disease brain. Recent approaches to diagnosis and pathogenesis, and relation to aging. Scand J Rheumatol (1998) 1.03
APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD). Genet Med (2007) 0.99
Diagnostic procedures for Paget's disease. Radiologic, pathologic, and laboratory testing. Endocrinol Metab Clin North Am (1995) 0.95
SQSTM1 and Paget's disease of bone. Calcif Tissue Int (2004) 0.91
A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization. Trans Assoc Am Physicians (1982) 0.90
Mechanisms of disease: genetics of Paget's disease of bone and related disorders. Nat Clin Pract Rheumatol (2006) 0.90
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Brain (2004) 0.84
Treatment of Paget's disease--taming the wild osteoclast. N Engl J Med (2005) 0.80
Chromosome 3-linked frontotemporal dementia. Cell Mol Life Sci (1998) 0.80
The genome sequence of the malaria mosquito Anopheles gambiae. Science (2002) 20.36
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Comparative genome and proteome analysis of Anopheles gambiae and Drosophila melanogaster. Science (2002) 9.43
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet (2004) 7.84
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol (2007) 6.58
Neuropathologic substrate of mild cognitive impairment. Arch Neurol (2006) 6.26
Atypical subtrochanteric and diaphyseal femoral fractures: second report of a task force of the American Society for Bone and Mineral Research. J Bone Miner Res (2013) 5.76
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am J Pathol (2007) 5.02
Bisphosphonate-induced osteopetrosis. N Engl J Med (2003) 4.99
Neuropathology of nondemented aging: presumptive evidence for preclinical Alzheimer disease. Neurobiol Aging (2009) 4.36
Role for Akt3/protein kinase Bgamma in attainment of normal brain size. Mol Cell Biol (2005) 4.00
Initiation and synergistic fibrillization of tau and alpha-synuclein. Science (2003) 3.76
Discovery and evaluation of inhibitors of human sphingosine kinase. Cancer Res (2003) 3.71
Reduction of TRAIL-induced Mcl-1 and cIAP2 by c-Myc or sorafenib sensitizes resistant human cancer cells to TRAIL-induced death. Cancer Cell (2007) 3.37
Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med (2002) 3.34
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med (2002) 3.31
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
Mutant V599EB-Raf regulates growth and vascular development of malignant melanoma tumors. Cancer Res (2005) 2.98
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol (2007) 2.97
Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies. J Neuropathol Exp Neurol (2008) 2.96
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med (2015) 2.77
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies. Acta Neuropathol (2009) 2.76
Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res (2008) 2.64
Forced vital capacity in patients with idiopathic pulmonary fibrosis: test properties and minimal clinically important difference. Am J Respir Crit Care Med (2011) 2.62
Ascertainment of individual risk of mortality for patients with idiopathic pulmonary fibrosis. Am J Respir Crit Care Med (2011) 2.54
Improvement of bilateral motor functions in patients with Parkinson disease through the unilateral intraputaminal infusion of glial cell line-derived neurotrophic factor. J Neurosurg (2005) 2.53
Modeling the association between 43 different clinical and pathological variables and the severity of cognitive impairment in a large autopsy cohort of elderly persons. Brain Pathol (2008) 2.44
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol (2006) 2.43
The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis (2006) 2.42
Six-minute-walk test in idiopathic pulmonary fibrosis: test validation and minimal clinically important difference. Am J Respir Crit Care Med (2010) 2.40
Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet (2006) 2.33
Hippocampal sclerosis in advanced age: clinical and pathological features. Brain (2011) 2.16
Cost-effectiveness of multilevel hemilaminectomy for lumbar stenosis-associated radiculopathy. Spine J (2011) 2.12
Pharmacology and antitumor activity of ABC294640, a selective inhibitor of sphingosine kinase-2. J Pharmacol Exp Ther (2010) 2.09
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. J Neurosci (2010) 2.05
Rapid skeletal turnover in a radiographic mimic of osteopetrosis. J Bone Miner Res (2014) 2.00
PIM1 protein kinase regulates PRAS40 phosphorylation and mTOR activity in FDCP1 cells. Cancer Biol Ther (2009) 1.97
Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol (2005) 1.94
Dissociation of automatic and strategic lexical-semantics: functional magnetic resonance imaging evidence for differing roles of multiple frontotemporal regions. J Neurosci (2006) 1.92
Genotype-phenotype correlation in primary carnitine deficiency. Hum Mutat (2011) 1.91
Antitumor activity of sphingosine kinase inhibitors. J Pharmacol Exp Ther (2006) 1.88
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med (2004) 1.82
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. Hum Mutat (2011) 1.77
Effect of CYP1A1 gene polymorphisms on estrogen metabolism and bone density. J Bone Miner Res (2004) 1.77
MDM2 (murine double minute-2) links inflammation and tubular cell healing during acute kidney injury in mice. Kidney Int (2012) 1.74
Low sensitivity in clinical diagnoses of dementia with Lewy bodies. J Neurol (2009) 1.73
Antitumor activity of sphingosine kinase 2 inhibitor ABC294640 and sorafenib in hepatocellular carcinoma xenografts. Cancer Biol Ther (2011) 1.72
Suppression of ulcerative colitis in mice by orally available inhibitors of sphingosine kinase. Dig Dis Sci (2007) 1.72
Uromodulin triggers IL-1β-dependent innate immunity via the NLRP3 inflammasome. J Am Soc Nephrol (2012) 1.72
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand. J Bone Miner Res (2011) 1.71
Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nat Genet (2005) 1.68
Response to chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. Hum Mutat (2013) 1.67
Brains with medial temporal lobe neurofibrillary tangles but no neuritic amyloid plaques are a diagnostic dilemma but may have pathogenetic aspects distinct from Alzheimer disease. J Neuropathol Exp Neurol (2009) 1.66
Lifelong bilingualism maintains neural efficiency for cognitive control in aging. J Neurosci (2013) 1.62
Alzheimer's disease is not "brain aging": neuropathological, genetic, and epidemiological human studies. Acta Neuropathol (2011) 1.62
Distinct antemortem profiles in patients with pathologically defined frontotemporal dementia. Arch Neurol (2007) 1.60
Cell cycle dependent and schedule-dependent antitumor effects of sorafenib combined with radiation. Cancer Res (2007) 1.58
TDP-43 pathologic lesions and clinical phenotype in frontotemporal lobar degeneration with ubiquitin-positive inclusions. Arch Neurol (2007) 1.57
Targeting mitogen-activated protein kinase/extracellular signal-regulated kinase kinase in the mutant (V600E) B-Raf signaling cascade effectively inhibits melanoma lung metastases. Cancer Res (2006) 1.56
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet (2012) 1.53
Recovery from skeletal fluorosis (an enigmatic, American case). J Bone Miner Res (2007) 1.48
17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions. Arch Neurol (2004) 1.47
Retarded axonal transport of R406W mutant tau in transgenic mice with a neurodegenerative tauopathy. J Neurosci (2004) 1.46
Nrf2 signalling promotes ex vivo tubular epithelial cell survival and regeneration via murine double minute (MDM)-2. Nephrol Dial Transplant (2013) 1.46
Human cerebral neuropathology of Type 2 diabetes mellitus. Biochim Biophys Acta (2008) 1.46
Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations. Arch Neurol (2007) 1.45
Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab (2006) 1.44
Age-related slowing of task switching is associated with decreased integrity of frontoparietal white matter. Neurobiol Aging (2008) 1.44
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. Nat Genet (2012) 1.42
Pregnancy-associated osteoporosis with a heterozygous deactivating LDL receptor-related protein 5 (LRP5) mutation and a homozygous methylenetetrahydrofolate reductase (MTHFR) polymorphism. J Bone Miner Res (2014) 1.41
Hippocampal sclerosis of aging, a prevalent and high-morbidity brain disease. Acta Neuropathol (2013) 1.41
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet (2010) 1.37
Huntingtin interacting protein 14 is an oncogenic human protein: palmitoyl acyltransferase. Oncogene (2004) 1.37
A novel sphingosine kinase inhibitor induces autophagy in tumor cells. J Pharmacol Exp Ther (2010) 1.37
Unilateral intraputamenal glial cell line-derived neurotrophic factor in patients with Parkinson disease: response to 1 year of treatment and 1 year of withdrawal. J Neurosurg (2007) 1.34
VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. J Biol Chem (2009) 1.31
Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res (2003) 1.31
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet (2012) 1.31
Damage control resuscitation in combination with damage control laparotomy: a survival advantage. J Trauma (2010) 1.30
Antiestrogenic effects of the novel sphingosine kinase-2 inhibitor ABC294640. Endocrinology (2010) 1.29
Suppression of colitis-driven colon cancer in mice by a novel small molecule inhibitor of sphingosine kinase. Carcinogenesis (2010) 1.28
A small molecule inhibitor of Pim protein kinases blocks the growth of precursor T-cell lymphoblastic leukemia/lymphoma. Blood (2009) 1.28
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat (2011) 1.28
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet (2012) 1.26
Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. Mol Genet Metab (2009) 1.25
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
Targeting NFĸB mediated breast cancer chemoresistance through selective inhibition of sphingosine kinase-2. Cancer Biol Ther (2011) 1.24
Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res (2011) 1.23