Mutant valosin‐containing protein causes a novel type of frontotemporal dementia

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Watts, G. D. J., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., & Kimonis, V. E. (2004) · Nature Genetics · doi:10.1038/ng1332 · Cited by 1,391

Demonstration of amyloid deposits and neurofibrillary changes in whole brain sections

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AAA-ATPase p97/Cdc48p, a Cytosolic Chaperone Required for Endoplasmic Reticulum-Associated Protein Degradation

Rabinovich, E., Kerem, A., Fröhlich, K., Diamant, N., & Bar‐Nun, S. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.2.626-634.2002 · Cited by 546

Monoclonal antibody PHF‐1 recognizes tau protein phosphorylated at serine residues 396 and 404

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A complex of mammalian Ufd1 and Npl4 links the AAA‐ATPase, p97, to ubiquitin and nuclear transport pathways

Meyer, H. H., Shorter, J., Seemann, J., Pappin, D., & Warren, G. (2000) · The EMBO Journal · doi:10.1093/emboj/19.10.2181 · Cited by 446

Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin–proteasome degradation

Dai, R. M., & Li, C.-C. H. (2001) · Nature Cell Biology · doi:10.1038/35087056 · Cited by 442

p47 is a cofactor for p97-mediated membrane fusion

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Involvement of Valosin-containing Protein, an ATPase Co-purified with IκBα and 26 S Proteasome, in Ubiquitin-Proteasome-mediated Degradation of IκBα

Dai, R., Chen, E., Longo, D. L., Gorbea, C. M., & Li, C.-C. H. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.6.3562 · Cited by 315

Distinct AAA-ATPase p97 complexes function in discrete steps of nuclear assembly

Hetzer, M. W., Meyer, H. H., Walther, T. C., Bilbao, D., Warren, G., & Mattaj, I. W. (2001) · Nature Cell Biology · doi:10.1038/ncb1201-1086 · Cited by 311

A Conformation‐ and Phosphorylation‐Dependent Antibody Recognizing the Paired Helical Filaments of Alzheimer's Disease

Jicha, G. A., Lane, E., Vincent, I. J., Ötvös, L., Hoffmann, R., & Davies, P. (1997) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1997.69052087.x · Cited by 264

Valosin-Containing Protein Gene Mutations: Cellular Phenotypes Relevant to Neurodegeneration

Poksay, K. S., Madden, D. T., Peter, A. K., Niazi, K. R., Banwait, S., Crippen, D., Bredesen, D. E., & Rao, R. V. (2011) · Journal of Molecular Neuroscience · doi:10.1007/s12031-010-9489-8 · Cited by 18

Cardiac-Restricted Expression of VCP/TER94 RNAi or Disease Alleles Perturbs Drosophila Heart Structure and Impairs Function

Viswanathan, M., Blice‐Baum, A. C., Sang, T., & Cammarato, A. (2016) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd3020019 · Cited by 17

Frontotemporal dementia

Roberson, E. D. (2006) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-006-0050-7 · Cited by 18

A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation

Segawa, M., Hoshi, A., Naruse, H., Kuroda, M., Bujo, H., & Ugawa, Y. (2015) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.cn-000765 · Cited by 16

DNA damage in embryonic neural stem cell determines FTLDs’ fate via early-stage neuronal necrosis

Homma, H., Tanaka, H., Jin, M., Jin, X., Huang, Y., Yoshioka, Y., Bertens, C. J., Tsumaki, K., Kondo, K., Shiwaku, H., et al. (2021) · Life Science Alliance · doi:10.26508/lsa.202101022 · Cited by 15

156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands

Goebel, H. H., Fardeau, M., Olivé, M., & Schröder, R. (2008) · Neuromuscular Disorders · doi:10.1016/j.nmd.2008.04.008 · Cited by 16

TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations

Forman, M. S., Mackenzie, I. R., Cairns, N. J., Boyer, P. J., Markesbery, W. R., & Neumann, M. (2007) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/01.jnen.0000268830.54543.21 · Cited by 16

Psychiatric Presentation of Frontotemporal Dementia Associated with Inclusion Body Myopathy due to the VCP Mutation (R155H) in a French Family

Jacquin, A., Rouaud, O., Soichot, P., Béjot, Y., Dygai‐Cochet, I., Sarazin, M., Stojkovic, T., Lemesle, M., Giroud, M., & Moreau, T. (2013) · Case Reports in Neurology · doi:10.1159/000356481 · Cited by 14

Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene

Matsubara, S., Shimizu, T., Komori, T., Mori‐Yoshimura, M., Minami, N., & Hayashi, Y. K. (2016) · Neuromuscular Disorders · doi:10.1016/j.nmd.2016.05.001 · Cited by 14

Targeted Excision of VCP R155H Mutation by Cre- LoxP Technology as a Promising Therapeutic Strategy for Valosin-Containing Protein Disease

Nalbandian, A., Llewellyn, K. J., Nguyen, C. C., Monuki, E. S., & Kimonis, V. E. (2014) · Human Gene Therapy Methods · doi:10.1089/hgtb.2014.096 · Cited by 13

The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?

Clemen, C. S., Winter, L., Strucksberg, K.-H., Berwanger, C., Türk, M., Kornblum, C., Florin, A., Aguilar‐Pimentel, J. A., Amarie, O. V., Becker, L., et al. (2018) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2018.08.038 · Cited by 11

An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP‐43 proteinopathy

Matsubara, T., Izumi, Y., Oda, M., Takahashi, M., Maruyama, H., Miyamoto, R., Watanabe, C., Tachiyama, Y., Morino, H., Kawakami, H., et al. (2021) · Neuropathology · doi:10.1111/neup.12710 · Cited by 12

UBXN1 maintains ER proteostasis and represses UPR activation by modulating translation

Ahlstedt, B. A., Ganji, R., Mukkavalli, S., Paulo, J. A., Gygi, S. P., & Raman, M. (2024) · EMBO Reports · doi:10.1038/s44319-023-00027-z · Cited by 12

Decreases in valosin-containing protein result in increased levels of tau phosphorylated at Ser262/356

Dolan, P. J., Jin, Y. N., Hwang, W., & Johnson, G. V. W. (2011) · FEBS Letters · doi:10.1016/j.febslet.2011.09.032 · Cited by 11

Frontotemporal lobar degeneration: clinical and pathologic overview.

Rabinovici, G., Rascovsky, K., & Miller, B. (2008) · Handbook of Clinical Neurology · doi:10.1016/s0072-9752(07)01233-x · Cited by 11

A Brazilian family with inclusion body myopathy associated with Paget’s disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation

Shinjo, S. K., Oba‐Shinjo, S. M., Lerário, A. M., & Marie, S. K. N. (2017) · Clinical Rheumatology · doi:10.1007/s10067-017-3913-1 · Cited by 11

The genetics of frontotemporal lobar degeneration

Sikkink, S. K., Rollinson, S. J., & Pickering-Brown, S. M. (2007) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3282f1c961 · Cited by 10

Frontal temporal dementia: dissecting the aetiology and pathogenesis

Hardy, J., Momeni, P., & Traynor, B. J. (2006) · Brain · doi:10.1093/brain/awl035 · Cited by 10

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy

Schiava, M., Ikenaga, C., Töpf, A., Caballero‐Ávila, M., Chou, T., Li, S., Wang, F., Daw, J., Stojkovic, T., Villar‐Quiles, R. N., et al. (2023) · Neurology Genetics · doi:10.1212/nxg.0000000000200093 · Cited by 9

Motor Neuron Disease

Siddique, T., Deng, H., & Ajroud‐Driss, S. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00141-5 · Cited by 9

Genética de las enfermedades neurodegenerativas más prevalentes

Lladó, A., Gaig, C., & Molinuevo, J. L. (2006) · Medicina Clínica · doi:10.1157/13087844 · Cited by 9

Parkinsonism in a patient with valosin-containing protein gene mutation showing: a case report

Fujimaki, M., Kanai, K., Funabe, S., Takanashi, M., Yokoyama, K., Li, Y., & Hattori, N. (2017) · Journal of Neurology · doi:10.1007/s00415-017-8467-2 · Cited by 8

Absence of TARDBP Gene Mutations in an Italian Series of Patients with Frontotemporal Lobar Degeneration

Gallone, S., Giordana, M. T., Scarpini, E. A., Rainero, I., Rubino, E., Fenoglio, P., Galimberti, D., Grifoni, S., Venturelli, E., Acutis, P. L., et al. (2009) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000241876 · Cited by 9

Frontotemporal dementia

Ghetti, B. F., & Goebel, H. H. (2006) · Neurology · doi:10.1212/01.wnl.0000237005.54105.d7 · Cited by 7

Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients

Türk, M., Schröder, R., Khuller, K., Hofmann, A., Berwanger, C., Ludolph, A. C., Dekomien, G., Müller, K., Weishaupt, J. H., Thiel, C. T., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.04.023 · Cited by 6

Autophagy-Lysosome Dysfunction in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

Sullivan, P. M., Zhou, X., & Hu, F. (2017) · InTech eBooks · doi:10.5772/intechopen.69371 · Cited by 6

No association of common VCP variants with sporadic frontotemporal dementia

Schumacher, A., Friedrich, P., Diehl, J., Ibach, B., Schöpfer-Wendels, A., Mueller, J. C., Konta, L., Laws, S. M., Kurz, A., Förstl, H., et al. (2007) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.05.023 · Cited by 6

Reply: Hereditary spastic paraplegia caused by a mutation in the VCP gene VCP: A Jack of all trades in neuro- and myodegeneration?

Clemen, C., Eichinger, L., & Schröder, R. (2012) · Brain · doi:10.1093/brain/aws202 · Cited by 6

A case of inclusion body myopathy with Paget^|^apos;s disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease

Igari, R., Wada, M., Sato, H., Hayashi, Y. K., Nishino, I., & Kato, T. (2013) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.53.458 · Cited by 5

Progranulin and Tau Gene Mutations Both as Cause for Dementia

Rosenberg, R. N. (2007) · Archives of Neurology · doi:10.1001/archneur.64.1.18 · Cited by 5

Pathology and pathophysiology

Dickerson, B. C. (2015) · Cambridge University Press eBooks · doi:10.1017/cbo9781316091586.016 · Cited by 4

Increased Neurofilament Light Chain and YKL-40 CSF Levels in One Japanese IBMPFD Patient With VCP R155C Mutation: A Clinical Case Report With CSF Biomarker Analyses

Ikeda, M., Kuwabara, T., Takai, E., Kasahara, H., Furuta, M., Sekine, A., Makioka, K., Yamazaki, T., Fujita, Y., Nagashima, K., et al. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.00757 · Cited by 4

Neuropathologic Classification of Dementias: Introduction

Duyckaerts, C. J. (2008) · Handbook of clinical neurology · doi:10.1016/s0072-9752(07)01214-6 · Cited by 4

Global Gene Expression Profiling in R155H Knock-In Murine Model of VCP Disease

Nalbandian, A., Ghimbovschi, S. D., Wang, Z., Knoblach, S. M., Llewellyn, K. J., Vesa, J., Hoffman, E. P., & Kimonis, V. E. (2014) · Clinical and Translational Science · doi:10.1111/cts.12241 · Cited by 4

Disease-specific Induced Pluripotent Stem Cell Modeling: Insights into the Pathophysiology of Valosin Containing Protein (VCP) Disease

Kimonis, D. F. V. E. (2014) · Journal of Stem Cell Research & Therapy · doi:10.4172/2157-7633.1000168 · Cited by 4

Genetic Risk Factors for Dementia

Hollingworth, P., & Williams, J. H. (2011) · Wiley eBooks · doi:10.1002/9781444344110.ch6 · Cited by 4

Demencia frontotemporal: revisión y nuestro punto de vista

Rodríguez‐Leyva, I., Oliva-Barrios, J. E., Cueli-Barcena, S., Carrizales-Rodríguez, J., Chi-Ahumada, É., & Jiménez-Capdeville, M. E. (2019) · Revista de Fomento Social · doi:10.24875/rmn.m18000011 · Cited by 3

Chapter 7 Ubiquitinopathies

Dickson, D. W. (2007) · Blue Books of Neurology · doi:10.1016/s1877-184x(09)70058-9 · Cited by 3

Early signs of VCP-related frontotemporal dementia: a neuropsychological, FDG-PET and fMRI study

Kalbe, E., Onur, O. A., Minnerop, M., Reimann, J., Althaus, A., Ahmadzadehfar, H., Dodel, R. C., Strach, K. A., Clemen, C. S., Herholz, K., et al. (2010) · Journal of Neurology · doi:10.1007/s00415-010-5774-2 · Cited by 3

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy

Schiava, M., Parkhurst, Y., Henderson, M., Polvikoski, T. M., Valtcheva, M. V., Nishino, I., Inoue, M., Nishimori, Y., Saito, Y., Stojkovic, T., et al. (2025) · Neurology Genetics · doi:10.1212/nxg.0000000000200265 · Cited by 3

IBMPFD and p97, the Structural and Molecular Basis for Functional Disruption

Tang, W.-K., & Xi, D. (2012) · InTech eBooks · doi:10.5772/30011 · Cited by 2

Purification, crystallization and preliminary X-ray diffraction analysis of disease-related mutants of p97

Tang, W., Li, D., Esser, L., & Xia, D. (2009) · Acta Crystallographica Section F Structural Biology and Crystallization Communications · doi:10.1107/s174430910904055x · Cited by 2

Valosin-containing protein (VCP) is a novel IQ motif-containing GTPase activating protein 1 (IQGAP1)-interacting protein

Itoh, N., Nagai, T., Watanabe, T., Taki, K., Nabeshima, T., Kaibuchi, K., & Yamada, K. (2017) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2017.09.159 · Cited by 2

Senile Dementia

Pedersen, W. A. (2007) · xPharm: The Comprehensive Pharmacology Reference · doi:10.1016/b978-008055232-3.60662-2 · Cited by 1

Valosin-Containing Protein (VCP) Disease and Familial Alzheimer’s Disease: Contrasts and Overlaps

Smith, C., Badadani, M., Nalbandian, A., Dec, E., Vesa, J., Donkervoort, S. C., Martin, B., Watts, G., Caiozzo, V. J., & Kimonis, V. E. (2011) · InTech eBooks · doi:10.5772/18811 · Cited by 2

Geneticsof frontotemporal dementia and related disorders

Cruts, M., & Broeckhoven, C. V. (2015) · Cambridge University Press eBooks · doi:10.1017/cbo9781316091586.017 · Cited by 1

Hereditary Inclusion-Body Myopathies

Broccolini, A., & Massimiliano Mirabella, A. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-410529-4.00095-4 · Cited by 1

Hereditary inclusion-body myopathies

Broccolini, A., & Massimiliano Mirabella, A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813866-3.00028-x · Cited by 1

Molecular and cellular neuropathology of cognitive dysfunction in ALS

Bigio, E. H. (2006) · CRC Press eBooks · doi:10.1201/b14376-14 · Cited by 1

Neurogenetic disorders

Larner, A. J. (2008) · Cambridge University Press eBooks · doi:10.1017/cbo9780511545009.006 · Cited by 1

The targeting of non-fibrillar polyQ via distinct VCP-proteasome couplingPreprint

Zhao, D. Y., Mi, C., Wagner, J., Jiang, W., Saha, I., Poege, M., Xu, P., Plitzko, J. M., Guo, Q., Beck, F., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.04.01.646186 · Cited by 2

Estendendo o espectro das degenerações lobares frontotemporais: revisão de uma série clinicopatológica de 833 de demências

Grinberg, L. T. (2006) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2006.tde-04042007-082907

Systematic Analysis of disease pathways in Congenital, Infantile and Juvenile Neuronal Ceroid Lipofuscinoses

Scifo, E. (2014) · Työväentutkimus Vuosikirja

The basis of VCP-mediated degeneration: Insights from a Drosophila model of disease

Ritson, G. P. (2010) · Scholarly Commons (University of Pennsylvania)

Proteins of Autophagy: LAMP‐2, VMA21, VCP, and TRIM32

Malicdan, M. C. V., & Nishino, I. (2013) · doi:10.1002/9781118635469.ch25

Implicación de los genes MAPT y PGRN en la degeneración lobar frontotemporal: mecanismos patgénicos y expresión fenotípica.

Plarrumaní, A. L. (2008) · Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)

Clinical Spectrum of VCP Myopathy, Paget Disease, and fronTotemporal Dementia: Experimental Models and Potential Treatments

Kimonis, V. E., Dec, E., Badadani, M., Nalbandian, A., Vesa, J., Caiozzo, V. J., Wallace, D. C., Martin, B., Smith, C. D., & Watts, G. D. J. (2011) · Wiley eBooks · doi:10.1002/9781444398311.ch15

Other degenerative processes

Möller, J. C., & Oertel, W. H. (2007) · Handbook of clinical neurology · doi:10.1016/s0072-9752(07)84054-1

Frontotemporal Lobar Degeneration

Schlachetzki, J. C. M. (2011) · InTech eBooks · doi:10.5772/28174

Function and Structure ofVCPMutations Leading to Inclusion‐Body Myopathy Associated with Paget Disease of Bone and Frontotemporal Dementia

Wójcik, C. (2011) · Wiley eBooks · doi:10.1002/9781444398311.ch14

Pathogenesis of Testicular Germ Cell Tumors from a Developmental Point of View

Biermann, K. (2010) · RePub (Erasmus University Rotterdam)

Drosophila and Mouse Models of Hereditary Myopathy Caused by Mutations in VCP/p97

Badders, N. M., & Taylor, J. P. (2011) · doi:10.1002/9781444398311.ch16

Negative Changes in Wild-Type and Autophagy 9- Deficient Dictyostelium strains

Arhzaouy, K., Strucksberg, K.-H., Tung, S. M., Tangavelou, K., Stumpf, M., Faix, J., Clemen, C. S., & Eichinger, L. (2012)

LEA TENENHOLZ GRINBERG

Paulo, S. (2006)

Modelling C9orf72-linked frontotemporal dementia and amyotrophic lateral sclerosis

Ryan, S. (2015) · Research Explorer (The University of Manchester)

Nosologie des dégénérescences lobaires frontotemporales

Hannequin, D., Wallon, D., Martinaud, O., Maltête, D., Deramecourt, V., Campion, D., & Ber, I. L. (2011) · Pratique Neurologique - FMC · doi:10.1016/j.praneu.2011.02.009

Nosologie des dégénérescences lobaires frontotemporales Nosologic criteria for frontotemporal degeneration

Hannequin, D., Wallon, D., Martinaud, O., Maltête, D., Deramecourt, V., & Campion, D. (2015)

Functional proteome analysis of pathophysiological variants of the AAA-ATPase Cdc48p, VCP

Braun, R. J. (2007) · Site cant be reached

Paget's Disease of Bone

Grauer, A., Siris, E. S., & Ralston, S. H. (2006) · Elsevier eBooks · doi:10.1016/b9-78-012088-5/62650-0480

Diversity of VCP-related phenotypes: case report and literature review

Rudenskaya, G. E., Миронович, О. Л., Murtazina, A. F., & Shchagina, O. (2021) · Neuromuscular Diseases · doi:10.17650/2222-8721-2021-11-1-25-38

Neurodegenerative disorders

Larner, A. J. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139176095.004

Dementias☆

Anderson, H. S. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.05297-1

UBXN1 maintains ER proteostasis and represses UPR activation by modulating translation independently of the p97 ATPasePreprint

Ahlstedt, B. A., Ganji, R., Mukkavalli, S., Paulo, J. A., Gygi, S. P., & Raman, M. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.12.16.520763

Hereditary inclusion-body myopathies

Broccolini, A., Lucchini, M., & Massimiliano Mirabella, A. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19176-3.00026-1

Rôle d'HDAC6 et de VCP dans la réponse au stress thermique. Implications dans l'IBMPFD

Pernet, L. (2014) · theses.fr (ABES) · doi:10.70675/47616bc9zd164z44b3z889cze4a70ebf46b9

Mechanisms of C9ORF72 pathogenicity and related autophagy impairment in amyotrophic lateral sclerosis

de Calbiac, H. (2019) · theses.fr (ABES) · doi:10.70675/bafe951fz8332z4b0azb55bzac8a4af1955b

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

Bersano, A., Bo, R. D., Lamperti, C., Ghezzi, S., Fagiolari, G., Fortunato, F., Ballabio, E., Moggio, M. G., Candelise, L., Galimberti, D., et al. (2007) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.08.009 · Cited by 73

Frontotemporal dementia associated with a Valosin‐Containing Protein mutation: report of three families

Spina, S., Laar, A. D. V., Murrell, J. R., de Courten‐Myers, G., Hamilton, R. L., Farlow, M. R., Quinlan, J. G., DeKosky, S. T., & Ghetti, B. F. (2008) · The FASEB Journal · doi:10.1096/fasebj.22.1_supplement.58.4 · Cited by 21

Valosin-containing protein gene mutations

Guyant‐Maréchal, L., Laquerrière, A., Duyckaerts, C. J., Dumanchin‐Njock, C., Bou, J., Dugny, F., Ber, I. L., Frébourg, T., Hannequin, D., & Campion, D. (2006) · Neurology · doi:10.1212/01.wnl.0000225184.14578.d3 · Cited by 152

An Italian family with inclusion‐body myopathy and frontotemporal dementia due to mutation in the VCP gene

Gidaro, T., Modoni, A., Sabatelli, M., Tasca, G. A., Broccolini, A., & Massimiliano Mirabella, A. (2007) · Muscle & Nerve · doi:10.1002/mus.20890 · Cited by 45

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

Watts, G., Thomasová, D., Ramdeen, S., Fulchiero, E. C., Mehta, S. G., Drachman, D., Weihl, C. C., Jamrozik, Z., Kwieciński, H., Kamińska, A., et al. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00887.x · Cited by 140