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All publications related to disease Desmin-related myopathy. To link directly to a specific first author surname click on the required letter below.
ABCDFGKMOPSVY A Arbustini E, Pasotti M, Pilotto A, Pellegrini C, Grasso M, Previtali S, Repetto A, Bellini O, Azan G, Scaffino M, Campana C, Piccolo G, Viganò M, Tavazzi L
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Eur J Heart Fail 2006 8(5) 477-483 PubMed: 16376610 Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C
Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
Neuromuscul Disord 2006 16(8) 498-503 PubMed: 16806931 Back to index B Bär H, Fischer D, Goudeau B, Kley RA, Clemen CS, Vicart P, Herrmann H, Vorgerd M, Schröder R
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
Hum Mol Genet 2005 14(10) 1251-1260 PubMed: 15800015 Bär H, Goudeau B, Wälde S, Casteras-Simon M, Mücke N, Shatunov A, Goldberg YP, Clarke C, Holton JL, Eymard B, Katus HA, Fardeau M, Goldfarb L, Vicart P, Herrmann H
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Hum Mutat 2007 28(4) 374-386 PubMed: 17221859 Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, Peter van Tintelen J
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
Eur J Med Genet 2007 () - PubMed: 17720647 Back to index C Carlsson L, Fischer C, Sjöberg G, Robson RM, Sejersen T, Thornell LE
Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation.
Acta Neuropathol (Berl) 2002 104(5) 493-504 PubMed: 12410397 Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
Hum Mutat 2008 () - PubMed: 19105189 Back to index D Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, Squier W, Nagle JW, Goldfarb LG, Vicart P
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
Muscle Nerve 2003 27(6) 669-675 PubMed: 12766977 Dagvadorj A, Olivé M, Urtizberea JA, Halle M, Shatunov A, Bönnemann C, Park KY, Goebel HH, Ferrer I, Vicart P, Dalakas MC, Goldfarb LG
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
J Neurol 2004 251(2) 143-149 PubMed: 14991347 Dalakas MC, Dagvadorj A, Goudeau B, Park KY, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG
Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.
Neuromuscul Disord 2003 13(3) 252-258 PubMed: 12609507 Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
N Engl J Med 2000 342(11) 770-780 PubMed: 10717012 Back to index F Fidziańska A, Kotowicz J, Sadowska M, Goudeau B, Walczak E, Vicart P, Hausmanowa-Petrusewicz I
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
Neuromuscul Disord 2005 15(8) 525-531 PubMed: 16009553 Back to index G Goldfarb LG, Park KY, Cervenáková L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
Nat Genet 1998 19(4) 402-403 PubMed: 9697706 Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nédellec P, Casteras-Simon M, Perret E, Langlois S, Goldfarb L, Vicart P
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
Hum Mutat 2001 18(5) 388-396 PubMed: 11668632 Goudeau B, Rodrigues-Lima F, Fischer D, Casteras-Simon M, Sambuughin N, de Visser M, Laforet P, Ferrer X, Chapon F, Sjöberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, Vicart P
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Hum Mutat 2006 27(9) 906-913 PubMed: 16865695 Back to index K Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
Hum Genet 2004 114(3) 306-313 PubMed: 14648196 Back to index M Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, Vela E, Mate JL, Coll J, Fernández-Figueras MT, Navas-Palacios JJ, Ariza A, Fuchs E
A dysfunctional desmin mutation in a patient with severe generalized myopathy.
Proc Natl Acad Sci U S A 1998 95(19) 11312-11317 PubMed: 9736733 Back to index O Olivé M, Armstrong J, Miralles F, Pou A, Fardeau M, Gonzalez L, Martínez F, Fischer D, Martínez Matos JA, Shatunov A, Goldfarb L, Ferrer I
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
Neuromuscul Disord 2007 17(6) 443-450 PubMed: 17418574 Olivé M, Goldfarb L, Moreno D, Laforet E, Dagvadorj A, Sambuughin N, Martínez-Matos JA, Martínez F, Alió J, Farrero E, Vicart P, Ferrer I
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.
J Neurol Sci 2004 219(1-2) 125-137 PubMed: 15050448 Back to index P Park KY, Dalakas MC, Goebel HH, Ferrans VJ, Semino-Mora C, Litvak S, Takeda K, Goldfarb LG
Desmin splice variants causing cardiac and skeletal myopathy.
J Med Genet 2000 37(11) 851-857 PubMed: 11073539 Park KY, Dalakas MC, Semino-Mora C, Lee HS, Litvak S, Takeda K, Ferrans VJ, Goldfarb LG
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
Clin Genet 2000 57(6) 423-429 PubMed: 10905661 Pica EC, Kathirvel P, Pramono ZA, Lai PS, Yee WC
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
Neuromuscul Disord 2008 18(2) 178-182 PubMed: 18061454 Piñol-Ripoll G, Shatunov A, Cabello A, Larrodé P, de la Puerta I, Pelegrín J, Ramos FJ, Olivé M, Goldfarb LG
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
Neuromuscul Disord 2009 19(6) 418-422 PubMed: 19433360 Back to index S Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
Hum Mol Genet 2003 12(6) 657-669 PubMed: 12620971 Selcen D, Ohno K, Engel AG
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Brain 2004 127(Pt 2) 439-451 PubMed: 14711882 Sjöberg G, Saavedra-Matiz CA, Rosen DR, Wijsman EM, Borg K, Horowitz SH, Sejersen T
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
Hum Mol Genet 1999 8(12) 2191-2198 PubMed: 10545598 Sugawara M, Kato K, Komatsu M, Wada C, Kawamura K, Shindo PS, Yoshioka PN, Tanaka K, Watanabe S, Toyoshima I
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.
Neurology 2000 55(7) 986-990 PubMed: 11061256 Back to index V Vrabie A, Goldfarb LG, Shatunov A, Nägele A, Fritz P, Kaczmarek I, Goebel HH
The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.
Acta Neuropathol (Berl) 2005 109(4) 411-417 PubMed: 15759133 Back to index Y Yuri T, Miki K, Tsukamoto R, Shinde A, Kusaka H, Tsubura A
Autopsy case of desminopathy involving skeletal and cardiac muscle.
Pathol Int 2007 57(1) 32-36 PubMed: 17199740 Back to index This page was last modified: April 17 2009 14:28:35. |
