| Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein GDJ Watts, J Wymer, MJ Kovach, SG Mehta, S Mumm, D Darvish, ... Nature genetics 36 (4), 377-381, 2004 | 1612 | 2004 |
| Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS HJ Kim, NC Kim, YD Wang, EA Scarborough, J Moore, Z Diaz, ... Nature 495 (7442), 467-473, 2013 | 1551 | 2013 |
| Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome VE Kimonis, AM Goldstein, B Pastakia, ML Yang, R Kase, JJ DiGiovanna, ... American journal of medical genetics 69 (3), 299-308, 1997 | 1187 | 1997 |
| VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD E Tresse, FA Salomons, J Vesa, LC Bott, V Kimonis, TP Yao, NP Dantuma, ... Autophagy 6 (2), 217-227, 2010 | 491 | 2010 |
| Nutritional phases in Prader–Willi syndrome JL Miller, CH Lynn, DC Driscoll, AP Goldstone, JA Gold, V Kimonis, ... American journal of medical genetics Part A 155 (5), 1040-1049, 2011 | 461 | 2011 |
| Molecular mechanism for duplication 17p11. 2—the homologous recombination reciprocal of the Smith-Magenis microdeletion L Potocki, KS Chen, SS Park, DE Osterholm, MA Withers, V Kimonis, ... Nature genetics 24 (1), 84-87, 2000 | 404 | 2000 |
| TDP-43 in the Ubiquitin Pathology of Frontotemporal Dementia With VCP Gene Mutations M Neumann, IR Mackenzie, NJ Cairns, PJ Boyer, WR Markesbery, ... Journal of Neuropathology & Experimental Neurology 66 (2), 152-157, 2007 | 386 | 2007 |
| TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia CC Weihl, P Temiz, SE Miller, G Watts, C Smith, M Forman, PI Hanson, ... Journal of Neurology, Neurosurgery & Psychiatry 79 (10), 1186-1189, 2008 | 326 | 2008 |
| Specific loss of histone H3 lysine 9 trimethylation and HP1γ/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD) W Zeng, JC De Greef, YY Chen, R Chien, X Kong, HC Gregson, ... PLoS genetics 5 (7), e1000559, 2009 | 319 | 2009 |
| VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder VE Kimonis, E Fulchiero, J Vesa, G Watts Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1782 (12 …, 2008 | 267 | 2008 |
| Novel Ubiquitin Neuropathology in Frontotemporal Dementia With Valosin-Containing Protein Gene Mutations MS Forman, IR Mackenzie, NJ Cairns, E Swanson, PJ Boyer, ... Journal of Neuropathology & Experimental Neurology 65 (6), 571-581, 2006 | 259 | 2006 |
| Valosin-containing protein disease: inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia CC Weihl, A Pestronk, VE Kimonis Neuromuscular Disorders 19 (5), 308-315, 2009 | 258 | 2009 |
| 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 … MJ Kovach, B Waggoner, SM Leal, D Gelber, R Khardori, MA Levenstien, ... Molecular genetics and metabolism 74 (4), 458-475, 2001 | 253 | 2001 |
| Genetics of craniosynostosis V Kimonis, JA Gold, TL Hoffman, J Panchal, SA Boyadjiev Seminars in pediatric neurology 14 (3), 150-161, 2007 | 248 | 2007 |
| Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome VE Kimonis, SG Mehta, JJ Digiovanna, SJ Bale, B Pastakia Genetics in medicine 6 (6), 495-502, 2004 | 215 | 2004 |
| Mutant valosin‐containing protein causes a novel type of frontotemporal dementia R Schröder, GDJ Watts, SG Mehta, BO Evert, P Broich, K Fließbach, ... Annals of neurology 57 (3), 457-461, 2005 | 207 | 2005 |
| Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia VE Kimonis, SG Mehta, EC Fulchiero, D Thomasova, M Pasquali, ... American journal of medical genetics Part A 146 (6), 745-757, 2008 | 196 | 2008 |
| Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23 A Shatunov, N Sambuughin, J Jankovic, R Elble, HS Lee, AB Singleton, ... Brain 129 (9), 2318-2331, 2006 | 186 | 2006 |
| A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma V Kimonis, JM Yang, SZ Doyle, SJ Bale, JG Compton, JJ DiGiovanna Journal of investigative dermatology 103 (6), 764-769, 1994 | 181 | 1994 |
| Pathological consequences of VCP mutations on human striated muscle CU Hübbers, CS Clemen, K Kesper, A Böddrich, A Hofmann, ... Brain 130 (2), 381-393, 2007 | 180 | 2007 |
Margaret J. KovachProfessor, University of Tennessee-Chattanooga在 utc.edu 的电子邮件经过验证
