PMC Links for Books (Select 1462456) - PMC

Select item 61731871.

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

Virginia E. Kimonis, Margaret J. Kovach, Brook Waggoner, Suzanne Leal, Ambar Salam, Lisa Rimer, Katherine Davis, Romesh Khardori, David Gelber

Genet Med. Author manuscript; available in PMC 2018 Oct 5.

Published in final edited form as: Genet Med. 2000 Jul-Aug; 2(4): 232–241. doi: 10.1097/00125817-200007000-00006

PMCID:: PMC6173187

Article PDF–682K

Select item 57399712.

Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy

Ebaa Al-Obeidi, Sejad Al-Tahan, Abhilasha Surampalli, Namita Goyal, Annabel Wang, Andreas Hermann, Molly Omizo, Charles Smith, Tahseen Mozaffar, Virginia Kimonis

Clin Genet. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Clin Genet. 2018 Jan; 93(1): 119–125. doi: 10.1111/cge.13095

PMCID:: PMC5739971

Article PDF–160K

Select item 55653933.

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

Abhilasha Surampalli, Manaswitha Khare, Georgette Kubrussi, Marie Wencel, Jasmin Tanaja, Sandra Donkervoort, Kathryn Osann, Mariella Simon, Douglas Wallace, Charles Smith, Aideen McInerney-Leo, Virginia Kimonis

J Genet Couns. Author manuscript; available in PMC 2017 Aug 21.

Published in final edited form as: J Genet Couns. 2015 Oct; 24(5): 842–850. Published online 2015 Feb 26. doi: 10.1007/s10897-015-9819-7

PMCID:: PMC5565393

Article PDF–90K

Select item 53604484.

Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants

Ting Zhang, Prashant Mishra, Bruce A Hay, David Chan, Ming Guo

eLife. 2017; 6: e17834. Published online 2017 Mar 21. doi: 10.7554/eLife.17834

PMCID:: PMC5360448

Article PDF–14M

Select item 47319255.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 45447536.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 39083557.

Motor neuron involvement in multisystem proteinopathy: Implications for ALS

Michael Benatar, Joanne Wuu, Catalina Fernandez, Conrad C. Weihl, Heather Katzen, Julie Steele, Bjorn Oskarsson, J. Paul Taylor

Neurology. 2013 May 14; 80(20): 1874–1880. doi: 10.1212/WNL.0b013e3182929fc3

PMCID:: PMC3908355

Article PDF–325K

Select item 37569118.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Hong Joo Kim, Nam Chul Kim, Yong-Dong Wang, Emily A. Scarborough, Jennifer Moore, Zamia Diaz, Kyle S. MacLea, Brian Freibaum, Songqing Li, Amandine Molliex, Anderson P. Kanagaraj, Robert Carter, Kevin B. Boylan, Aleksandra M. Wojtas, Rosa Rademakers, Jack L. Pinkus, Steven A. Greenberg, John Q. Trojanowski, Bryan J. Traynor, Bradley N. Smith, Simon Topp, Athina-Soragia Gkazi, Jack Miller, Christopher E. Shaw, Michael Kottlors, Janbernd Kirschner, Alan Pestronk, Yun R. Li, Alice Flynn Ford, Aaron D. Gitler, Michael Benatar, Oliver D. King, Virginia E. Kimonis, Eric D. Ross, Conrad C. Weihl, James Shorter, J. Paul Taylor

Nature. Author manuscript; available in PMC 2013 Sep 28.

Published in final edited form as: Nature. 2013 Mar 28; 495(7442): 467–473. Published online 2013 Mar 3. doi: 10.1038/nature11922

PMCID:: PMC3756911

Article PDF–2.7M

Select item 37345489.

Phenotypic variability in three families with valosin-containing protein mutation

S. Spina, A. D. Van Laar, J. R. Murrell, R. L. Hamilton, J. K. Kofler, F. Epperson, M. R. Farlow, O. L. Lopez, J. Quinlan, S. T. DeKosky, B. Ghetti

Eur J Neurol. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Eur J Neurol. 2013 Feb; 20(2): 251–258. Published online 2012 Aug 20. doi: 10.1111/j.1468-1331.2012.03831.x

PMCID:: PMC3734548

Article PDF–629K

Select item 331870610.

The Role of the N-Domain in the ATPase Activity of the Mammalian AAA ATPase p97/VCP

Hajime Niwa, Caroline A. Ewens, Chun Tsang, Heidi O. Yeung, Xiaodong Zhang, Paul S. Freemont

J Biol Chem. 2012 Mar 9; 287(11): 8561–8570. Published online 2012 Jan 23. doi: 10.1074/jbc.M111.302778

PMCID:: PMC3318706

Article PDF–2.3M

Select item 322192911.

Mutational analysis of the VCP gene in Parkinson’s Disease

Elisa Majounie, Bryan J. Traynor, Adriano Chiò, Gabriella Restagno, Jessica Mandrioli, Michael Benatar, J. Paul Taylor, Andrew B. Singleton

Neurobiol Aging. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Neurobiol Aging. 2012 Jan; 33(1): 209.e1–209.e2. Published online 2011 Sep 13. doi: 10.1016/j.neurobiolaging.2011.07.011

PMCID:: PMC3221929

Article PDF–27K

Select item 303242512.

Exome sequencing reveals VCP mutations as a cause of familial ALS

Janel O. Johnson, Jessica Mandrioli, Michael Benatar, Yevgeniya Abramzon, Vivianna M. Van Deerlin, John Q. Trojanowski, J Raphael Gibbs, Maura Brunetti, Susan Gronka, Joanne Wuu, Jinhui Ding, Leo McCluskey, Maria Martinez-Lage, Dana Falcone, Dena G. Hernandez, Sampath Arepalli, Sean Chong, Jennifer C. Schymick, Jeffrey Rothstein, Francesco Landi, Michael Wang, Andrea Calvo, Gabriele Mora, Mario Sabatelli, Maria Rosaria Monsurrò, Stefania Battistini, Fabrizio Salvi, Rossella Spataro, Patrizia Sola, Giuseppe Borghero, ITALSGEN, Giuliana Galassi, Sonja W. Scholz, J. Paul Taylor, Gabriella Restagno, Adriano Chiò, Bryan J. Traynor

Neuron. Author manuscript; available in PMC 2011 Dec 9.

Published in final edited form as: Neuron. 2010 Dec 9; 68(5): 857–864. doi: 10.1016/j.neuron.2010.11.036

Correction in:: volume 69 on page 397

PMCID:: PMC3032425

Article PDF–1.3M

Select item 289232413.

Imbalances in p97 co-factor interactions in human proteinopathy

Vanesa Fernández-Sáiz, Alexander Buchberger

EMBO Rep. 2010 Jun; 11(6): 479–485. Published online 2010 Apr 23. doi: 10.1038/embor.2010.49

PMCID:: PMC2892324

Article PDF–849K

Select item 287505714.

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy

Jeong-Sun Ju, Conrad C. Weihl

Hum Mol Genet. 2010 Apr 15; 19(R1): R38–R45. Published online 2010 Apr 21. doi: 10.1093/hmg/ddq157

PMCID:: PMC2875057

Article PDF–257K

Select item 272574615.

Hereditary Inclusion Body Myopathy-Linked p97/VCP Mutations in the NH₂ Domain and the D1 Ring Modulate p97/VCP ATPase Activity and D2 Ring Conformation

Dalia Halawani, Andréa C. LeBlanc, Isabelle Rouiller, Stephen W. Michnick, Marc J. Servant, Martin Latterich

Mol Cell Biol. 2009 Aug; 29(16): 4484–4494. Published online 2009 Jun 8. doi: 10.1128/MCB.00252-09

PMCID:: PMC2725746

Article PDF–5.5M

Select item 258659416.

TDP-43 accumulation in IBM muscle suggests a common pathogenic mechanism with Frontotemporal dementia

Conrad C. Weihl, Peyker Temiz, Sara E. Miller, Giles Watts, Charles Smith, Mark Forman, Phyllis I. Hanson, Virginia Kimonis, Alan Pestronk

J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2008 Nov 24.

Published in final edited form as: J Neurol Neurosurg Psychiatry. 2008 Oct; 79(10): 1186–1189. doi: 10.1136/jnnp.2007.131334

PMCID:: PMC2586594

Article PDF–1.5M

Select item 246739117.

Clinical Studies in Familial VCP Myopathy Associated With Paget Disease of Bone and Frontotemporal Dementia

Virginia. E. Kimonis, Sarju G. Mehta, Erin C. Fulchiero, Dana Thomasova, Marzia Pasquali, Kym Boycott, Edward G. Neilan, Alex Kartashov, Mark S. Forman, Stuart Tucker, Katerina Kimonis, Steven Mumm, Michael P. Whyte, Charles D. Smith, Giles D. J. Watts

Am J Med Genet A. Author manuscript; available in PMC 2008 Jul 15.

Published in final edited form as: Am J Med Genet A. 2008 Mar 15; 146A(6): 745–757. doi: 10.1002/ajmg.a.31862

PMCID:: PMC2467391

Article PDF–2.0M

Select item 38436718.

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

Hemmo H. Meyer, James G. Shorter, Joachim Seemann, Darryl Pappin, Graham Warren

EMBO J. 2000 May 15; 19(10): 2181–2192. doi: 10.1093/emboj/19.10.2181

PMCID:: PMC384367

Article PDF–1.1M

Select item 13974419.

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

Efrat Rabinovich, Anat Kerem, Kai-Uwe Fröhlich, Noam Diamant, Shoshana Bar-Nun

Mol Cell Biol. 2002 Jan; 22(2): 626–634. doi: 10.1128/MCB.22.2.626-634.2002

PMCID:: PMC139744

Article PDF–295K

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