Emery AE: Population frequencies of inherited neuromuscular diseases–a world survey. Neuromuscul Disord. 1991, 1 (1): 19-29. 10.1016/0960-8966(91)90039-U.
Article
CAS
PubMed
Google Scholar
van der Maarel SM, Frants RR, Padberg GW: Facioscapulohumeral muscular dystrophy. Biochim Biophys Acta. 2007, 1772 (2): 186-194. 10.1016/j.bbadis.2006.05.009.
Article
CAS
PubMed
Google Scholar
Padberg GW: Facioscapulohumeral dystrophy. 1982, Leiden, the, Netherlands: Leiden University
Google Scholar
Pandya S, King WM, Tawil R: Facioscapulohumeral dystrophy. Phys Ther. 2008, 88 (1): 105-113. 10.2522/ptj.20070104.
Article
PubMed
Google Scholar
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camano P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, et al: A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010, 329 (5999): 1650-1653. 10.1126/science.1189044.
Article
CAS
PubMed
PubMed Central
Google Scholar
van der Maarel SM, Tawil R, Tapscott SJ: Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med. 2011, 17 (5): 252-258. 10.1016/j.molmed.2011.01.001.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M: Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet. 1995, 4 (5): 951-958. 10.1093/hmg/4.5.951.
Article
CAS
PubMed
Google Scholar
de Greef JC, Lemmers RJ, Camano P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, et al: Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology. 2010, 75 (17): 1548-1554. 10.1212/WNL.0b013e3181f96175.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, et al: Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature genetics. 2012, 44 (12): 1370-1374. 10.1038/ng.2454.
Article
CAS
PubMed
PubMed Central
Google Scholar
Du J, Wang X, Miereles C, Bailey JL, Debigare R, Zheng B, Price SR, Mitch WE: Activation of caspase-3 is an initial step triggering accelerated muscle proteolysis in catabolic conditions. J Clin Invest. 2004, 113 (1): 115-123.
Article
CAS
PubMed
PubMed Central
Google Scholar
Wallace LM, Garwick SE, Mei W, Belayew A, Coppee F, Ladner KJ, Guttridge D, Yang J, Harper SQ: DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Annals Neurology. 2011, 69 (3): 540-552. 10.1002/ana.22275.
Article
CAS
Google Scholar
Geng LN, Yao Z, Snider L, Fong AP, Cech JN, Young JM, van der Maarel SM, Ruzzo WL, Gentleman RC, Tawil R, et al: DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev Cell. 2012, 22 (1): 38-51. 10.1016/j.devcel.2011.11.013.
Article
CAS
PubMed
Google Scholar
Vanderplanck C, Ansseau E, Charron S, Stricwant N, Tassin A, Laoudj-Chenivesse D, Wilton SD, Coppee F, Belayew A: The FSHD atrophic myotube phenotype is caused by DUX4 expression. PLoS One. 2011, 6 (10): e26820-10.1371/journal.pone.0026820.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lokireddy S, McFarlane C, Ge X, Zhang H, Sze SK, Sharma M, Kambadur R: Myostatin induces degradation of sarcomeric proteins through a Smad3 signaling mechanism during skeletal muscle wasting. Mol Endocrinol. 2011, 25 (11): 1936-1949. 10.1210/me.2011-1124.
Article
CAS
PubMed
Google Scholar
Liu Q, Jones TI, Tang VW, Brieher WM, Jones PL: Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites. J Cell Sci. 2010, 123 (Pt 7): 1116-1123.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hanel ML, Sun CY, Jones TI, Long SW, Zanotti S, Milner D, Jones PL: Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein. Differ res Biol Diversity. 2011, 81 (2): 107-118. 10.1016/j.diff.2010.09.185.
Article
CAS
Google Scholar
Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, Adami R, Angeletti B, Ciscato P, Pellegrino MA, Bottinelli R, et al: Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature. 2006, 439 (7079): 973-977.
CAS
PubMed
Google Scholar
Wuebbles RD, Hanel ML, Jones PL: FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy. Disease Models Mechanisms. 2009, 2 (5–6): 267-274.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lassche S, Stienen GJ, Irving TC, van der Maarel SM, Voermans NC, Padberg GW, Granzier H, van Engelen BG, Ottenheijm CA: Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy. Neurology. 2013, 80 (8): 733-737. 10.1212/WNL.0b013e318282513b.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hilton-Jones D, Miller A, Parton M, Holton J, Sewry C, Hanna MG: Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008. Neuromuscular Disord: NMD. 2010, 20 (2): 142-147. 10.1016/j.nmd.2009.11.003.
Article
CAS
PubMed
Google Scholar
Mathieu J, Boivin H, Meunier D, Gaudreault M, Begin P: Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology. 2001, 56 (3): 336-340. 10.1212/WNL.56.3.336.
Article
CAS
PubMed
Google Scholar
Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, et al: Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Annals Neurology. 1999, 45 (6): 751-757. 10.1002/1531-8249(199906)45:6<751::AID-ANA9>3.0.CO;2-M.
Article
CAS
Google Scholar
van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM: Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Annals Neurology. 2005, 58 (4): 569-576. 10.1002/ana.20625.
Article
CAS
Google Scholar
Kalkman JS, Schillings ML, Zwarts MJ, van Engelen BG, Bleijenberg G: The development of a model of fatigue in neuromuscular disorders: a longitudinal study. J Psychosom Res. 2007, 62 (5): 571-579. 10.1016/j.jpsychores.2006.11.014.
Article
PubMed
Google Scholar
van der Werf SP, Prins JB, Vercoulen JH, van der Meer JW, Bleijenberg G: Identifying physical activity patterns in chronic fatigue syndrome using actigraphic assessment. J Psychosom Res. 2000, 49 (5): 373-379. 10.1016/S0022-3999(00)00197-5.
Article
CAS
PubMed
Google Scholar
Fries JF, Spitz P, Kraines RG, Holman HR: Measurement of patient outcome in arthritis. Arthritis and rheumatism. 1980, 23 (2): 137-145. 10.1002/art.1780230202.
Article
CAS
PubMed
Google Scholar
Craig CL, Marshall AL, Sjostrom M, Bauman AE, Booth ML, Ainsworth BE, Pratt M, Ekelund U, Yngve A, Sallis JF, et al: International physical activity questionnaire: 12-country reliability and validity. Med Sci Sports Exerc. 2003, 35 (8): 1381-1395. 10.1249/01.MSS.0000078924.61453.FB.
Article
PubMed
Google Scholar
Jacobs HM, Luttik A, Touw Otten FW, De Melker RA: The sickness impact profile; results of an evaluation study of the Dutch version]. Nederlands tijdschrift voor geneeskunde. 1990, 134 (40): 1950-1954.
CAS
PubMed
Google Scholar
Vanderiet K, Adriaensen H, Carton H, Vertommen H: The McGill Pain Questionnaire constructed for the Dutch language (MPQ-DV). Preliminary data concerning reliability and validity. Pain. 1987, 30 (3): 395-408. 10.1016/0304-3959(87)90027-3.
Article
CAS
PubMed
Google Scholar
Council MR: Aids to the examination of the peripheral nervous system, Memorandum no 45. edn. 1981, London, UK: Her Majesty's Stationery Office
Google Scholar
Berard C, Payan C, Hodgkinson I, Fermanian J: A motor function measure for neuromuscular diseases, construction and validation study. Neuromuscul Disord. 2005, 15 (7): 463-470. 10.1016/j.nmd.2005.03.004.
Article
PubMed
Google Scholar
Enright PL: The six-minute walk test. Respir Care. 2003, 48 (8): 783-785.
PubMed
Google Scholar
Podsiadlo D, Richardson S: The timed "Up & Go": a test of basic functional mobility for frail elderly persons. J Am Geriatr Soc. 1991, 39 (2): 142-148.
Article
CAS
PubMed
Google Scholar
Degens H, Sanchez Horneros JM, Heijdra YF, Dekhuijzen PN, Hopman MT: Skeletal muscle contractility is preserved in COPD patients with normal fat-free mass. Acta physiologica Scandinavica. 2005, 184 (3): 235-242. 10.1111/j.1365-201X.2005.01447.x.
Article
CAS
PubMed
Google Scholar
Wattjes MP, Kley RA, Fischer D: Neuromuscular imaging in inherited muscle diseases. Eur Radiol. 2010, 20 (10): 2447-2460. 10.1007/s00330-010-1799-2.
Article
PubMed
PubMed Central
Google Scholar
Kan HE, Scheenen TW, Wohlgemuth M, Klomp DW, van Loosbroek-Wagenmans I, Padberg GW, Heerschap A: Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2009, 19 (5): 357-362. 10.1016/j.nmd.2009.02.009.
Article
PubMed
Google Scholar
The FSH-DY Group: A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. Neurology. 1997, 48 (1): 38-46.
Article
Google Scholar
Ottenheijm CA, Hooijman P, DeChene ET, Stienen GJ, Beggs AH, Granzier H: Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol. 2010, 170 (2): 334-343. 10.1016/j.jsb.2009.11.013.
Article
CAS
PubMed
Google Scholar
Stienen GJ, Kiers JL, Bottinelli R, Reggiani C: Myofibrillar ATPase activity in skinned human skeletal muscle fibres: fibre type and temperature dependence. J Physiol. 1996, 493 (Pt 2): 299-307.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH: Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Hum Mol Genet. 2011, 20 (10): 2015-2025. 10.1093/hmg/ddr084.
Article
CAS
PubMed
PubMed Central
Google Scholar
Chandra M, Mamidi R, Ford S, Hidalgo C, Witt C, Ottenheijm C, Labeit S, Granzier H: Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost. J Biol Chem. 2009, 284 (45): 30889-30896. 10.1074/jbc.M109.049718.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ottenheijm CA, Witt CC, Stienen GJ, Labeit S, Beggs AH, Granzier H: Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Hum Mol Genet. 2009, 18 (13): 2359-2369. 10.1093/hmg/ddp168.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ottenheijm CA, Knottnerus AM, Buck D, Luo X, Greer K, Hoying A, Labeit S, Granzier H: Tuning passive mechanics through differential splicing of titin during skeletal muscle development. Biophys J. 2009, 97 (8): 2277-2286. 10.1016/j.bpj.2009.07.041.
Article
CAS
PubMed
PubMed Central
Google Scholar
Warren CM, Krzesinski PR, Greaser ML: Vertical agarose gel electrophoresis and electroblotting of high-molecular-weight proteins. Electrophoresis. 2003, 24 (11): 1695-1702. 10.1002/elps.200305392.
Article
CAS
PubMed
Google Scholar
Ottenheijm CA, Heunks LM, Geraedts MC, Dekhuijzen PN: Hypoxia-induced skeletal muscle fiber dysfunction: role for reactive nitrogen species. Am J Physiol Lung Cell Mol Physiol. 2006, 290 (1): L127-L135.
Article
CAS
PubMed
Google Scholar
Ottenheijm CA, Heunks LM, Sieck GC, Zhan WZ, Jansen SM, Degens H, de Boo T, Dekhuijzen PN: Diaphragm dysfunction in chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2005, 172 (2): 200-205. 10.1164/rccm.200502-262OC.
Article
PubMed
PubMed Central
Google Scholar
Lahmers S, Wu Y, Call DR, Labeit S, Granzier H: Developmental control of titin isoform expression and passive stiffness in fetal and neonatal myocardium. Circ Res. 2004, 94 (4): 505-513. 10.1161/01.RES.0000115522.52554.86.
Article
CAS
PubMed
Google Scholar