Virginia Kimonis

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Margaret J. KovachProfessor, University of Tennessee-ChattanoogaBestätigte E-Mail-Adresse bei utc.edu
charles smithProfessor of Neurology, University of KentuckyBestätigte E-Mail-Adresse bei uky.edu
Tahseen MozaffarProfessor of Neurology, University of California, irvineBestätigte E-Mail-Adresse bei uci.edu
Daniel J. DriscollProfessor of Pediatrics, University of FloridaBestätigte E-Mail-Adresse bei peds.ufl.edu
Elisabeth M DykensVanderbilt, UCLA, YaleBestätigte E-Mail-Adresse bei vanderbilt.edu
Roy TamuraAssociate Professor, University of South FloridaBestätigte E-Mail-Adresse bei epi.usf.edu
John H. WeissProfessor of Neurology, University of California, IrvineBestätigte E-Mail-Adresse bei uci.edu
J. Paul TaylorSt. Jude Children's Research HospitalBestätigte E-Mail-Adresse bei stjude.org
Sheena RamdeenMedStar Washington Hospital CenterBestätigte E-Mail-Adresse bei medstar.net
Jogeshwar MukherjeeProfessor, University of California, IrvineBestätigte E-Mail-Adresse bei uci.edu
Ian MackenzieDivision of Neuropathology, Department of Pathology and Lab Medicine, University of British ColumbiaBestätigte E-Mail-Adresse bei vch.ca
Nigel CairnsProfessor of NeuropathologyBestätigte E-Mail-Adresse bei exeter.ac.uk
Dietmar ThalProfessor for NeuropathologyBestätigte E-Mail-Adresse bei kuleuven.be
Caroline D RobsonAssociate Professor of Radiology, Harvard Medical SchoolBestätigte E-Mail-Adresse bei childrens.harvard.edu
Silvère van der MaarelProfessor of Medical Epigenetics, Head of Department, Human Genetics, Leiden University MedicalBestätigte E-Mail-Adresse bei lumc.nl
James LupskiBaylor College of MedicineBestätigte E-Mail-Adresse bei bcm.edu
Hanns Lochmüller, MD, FAANCHEO Research Institute and The Ottawa HospitalBestätigte E-Mail-Adresse bei toh.ca
Fowzan S Alkuraya, MDProfessor of Human Genetics, Alfaisal University and KFSHRC, Riyadh, Saudi ArabiaBestätigte E-Mail-Adresse bei kfshrc.edu.sa
Kyoko YokomoriUniversity of California, IrvineBestätigte E-Mail-Adresse bei uci.edu
Susan E WaisbrenBoston Children's HospitalBestätigte E-Mail-Adresse bei childrens.harvard.edu

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Virginia Kimonis

Uc irvine

Bestätigte E-Mail-Adresse bei uci.edu

Genetics


Titel Nach Zitationen sortieren Nach Jahr sortieren Nach Titel sortieren	Zitiert von Zitiert von	Jahr
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	1595	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	1524	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	1178	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	485	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	450	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	398	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	383	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	323	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	320	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	263	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	254	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	252	2001
Genetics of craniosynostosis V Kimonis, JA Gold, TL Hoffman, J Panchal, SA Boyadjiev Seminars in pediatric neurology 14 (3), 150-161, 2007	244	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	212	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	189	2006
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
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	180	1994

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