Publications

As a service to you we’ve listed below some recent and/or important scientific publications in the field of FSHD. We’d like to emphasize that although we list these publications on our website, this doesn’t automatically mean that we endorse the conclusions of these studies.

Recent Publications on FSHD region

The FSHD Foundation offers these publications as a service. This does not mean automatically that the foundation supports these studies.

Petrov A, Allinne J, Pirozhkova I, Laoudj D, Lipinski M, Vassetzky YS.
A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy.
Genome Res. 2008 Jan;18(1):39-45. Epub 2007 Nov 21.
PMID: 18032730 [PubMed - in process]

Pandya S, King WM, Tawil R.
Facioscapulohumeral dystrophy.
Phys Ther. 2008 Jan;88(1):105-13. Epub 2007 Nov 6. Review.
PMID: 17986494 [PubMed - indexed for MEDLINE]

Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattéotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppée F, Chen YW.
Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18157-62. Epub 2007 Nov 5.
PMID: 17984056 [PubMed - indexed for MEDLINE]

Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM.

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
Am J Hum Genet. 2007 Nov;81(5):884-94. Epub 2007 Sep 7.
PMID: 17924332 [PubMed - indexed for MEDLINE]

de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM.

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
Neurology. 2007 Sep 4;69(10):1018-26.
PMID: 17785671 [PubMed - indexed for MEDLINE]

Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, Mattéotti C, Arias C, Corona ED, Nuñez NG, Leo O, Wattiez R, Figlewicz D, Laoudj-Chenivesse D, Belayew A, Coppée F, Rosa AL.

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.
Neuromuscul Disord. 2007 Aug;17(8):611-23. Epub 2007 Jun 27.
PMID: 17588759 [PubMed - indexed for MEDLINE]

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 May;62(5):571-9.
PMID: 17467412 [PubMed - indexed for MEDLINE]

van der Kooi EL, Kalkman JS, Lindeman E, Hendriks JC, van Engelen BG, Bleijenberg G, Padberg GW.

Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy.
J Neurol. 2007 Jul;254(7):931-40. Epub 2007 Mar 14.
PMID: 17361345 [PubMed - indexed for MEDLINE]

Macaione V, Aguennouz M, Rodolico C, Mazzeo A, Patti A, Cannistraci E, Colantone L, Di Giorgio RM, De Luca G, Vita G.

RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy.
Acta Neurol Scand. 2007 Feb;115(2):115-21.
PMID: 17212615 [PubMed - indexed for MEDLINE]

Schillings ML, Kalkman JS, Janssen HM, van Engelen BG, Bleijenberg G, Zwarts MJ.

Experienced and physiological fatigue in neuromuscular disorders.
Clin Neurophysiol. 2007 Feb;118(2):292-300. Epub 2006 Dec 12.
PMID: 17166763 [PubMed - indexed for MEDLINE]

Ciafaloni E, Pressman EK, Loi AM, Smirnow AM, Guntrum DJ, Dilek N, Tawil R

Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy.
Neurology. 2006 Nov 28;67(10):1887-9.
PMID: 17130433 [PubMed - indexed for MEDLINE]

Celegato B, Capitanio D, Pescatori M, Romualdi C, Pacchioni B, Cagnin S, Viganò A, Colantoni L, Begum S, Ricci E, Wait R, Lanfranchi G, Gelfi C.

Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes.
Proteomics. 2006 Oct;6(19):5303-21.
PMID: 17013991 [PubMed - indexed for MEDLINE]

van der Kooi EL, de Greef JC, Wohlgemuth M, Frants RR, van Asseldonk RJ, Blom HJ, van Engelen BG, van der Maarel SM, Padberg GW.

No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy.
Neuromuscul Disord. 2006 Nov;16(11):766-9. Epub 2006 Sep 26.
PMID: 17005397 [PubMed - indexed for MEDLINE]

Thomas NS, Wiseman K, Spurlock G, MacDonald M, Ustek D, Upadhyaya M.

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.
J Med Genet. 2007 Mar;44(3):215-8. Epub 2006 Sep 20.
PMID: 16987949 [PubMed - indexed for MEDLINE]

van der Maarel SM, Frants RR, Padberg GW.

Facioscapulohumeral muscular dystrophy.
Biochim Biophys Acta. 2007 Feb;1772(2):186-94. Epub 2006 Jun 6. Review.
PMID: 16837171 [PubMed - indexed for MEDLINE]

Petrov A, Pirozhkova I, Carnac G, Laoudj D, Lipinski M, Vassetzky YS.

Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts.
Proc Natl Acad Sci U S A. 2006 May 2;103(18):6982-7. Epub 2006 Apr 21.
PMID: 16632607 [PubMed - indexed for MEDLINE]

Mouly V, Aamiri A, Périé S, Mamchaoui K, Barani A, Bigot A, Bouazza B, François V, Furling D, Jacquemin V, Negroni E, Riederer I, Vignaud A, St Guily JL, Butler-Browne GS.

Myoblast transfer therapy: is there any light at the end of the tunnel?
Acta Myol. 2005 Oct;24(2):128-33. Review.
PMID: 16550930 [PubMed - indexed for MEDLINE]

Tawil R, Van Der Maarel SM.

Facioscapulohumeral muscular dystrophy.
Muscle Nerve. 2006 Jul;34(1):1-15. Review.
PMID: 16508966 [PubMed - indexed for MEDLINE]

Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, Adami R, Angeletti B, Ciscato P, Pellegrino MA, Bottinelli R, Green MR, Tupler R.

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.
Nature. 2006 Feb 23;439(7079):973-7. Epub 2005 Dec 11.
PMID: 16341202 [PubMed - indexed for MEDLINE]

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.
Ann Neurol. 2005 Oct;58(4):569-76.
PMID: 16178028 [PubMed - in process]

Lefkowitz DL, Lefkowitz SS.

Fascioscapulohumeral muscular dystrophy: A progressive degenerative disease that responds to diltiazem.
Med Hypotheses. 2005 Jun 14; [Epub ahead of print]
PMID: 15963657 [PubMed - as supplied by publisher]

Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM.

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.
Neuromuscul Disord. 2005 May 31; [Epub ahead of print]
PMID: 15935668 [PubMed - as supplied by publisher]

Felice KJ, Jones JM, Conway SR.

Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family.
Muscle Nerve. 2005 May 6; [Epub ahead of print]
PMID: 15880682 [PubMed - as supplied by publisher]

Emmrich P, Ogunlade V, Gradistanac T, Daneschnejad S, Koch MC, Schober R.

[Facioscapulohumeral muscle dystrophy and heart disease]
Z Kardiol. 2005 May;94(5):348-54. German.
PMID: 15868364 [PubMed - in process]

Buzhkov BTs, Vuzharova R, Dimitrova V, Dimova I, Turnev I, van der Wielen M, van der Maarel S, Bakker B.

[First facioscapulohumeral muscular dystrophy prenatal diagnosis in a Bulgarian family]
Akush Ginekol (Sofiia). 2005;44(2):30-3. Bulgarian.
PMID: 15853025 [PubMed - indexed for MEDLINE]

Meola G.

Advanced microscopic and histochemical techniques: diagnostic tools in the molecular era of myology.
Eur J Histochem. 2005 Jan-Mar;49(1):93-6. Review.
PMID: 15823800 [PubMed - indexed for MEDLINE]

Chuenkongkaew WL, Lertrit P, Limwongse C, Nilanont Y, Boonyapisit K, Sangruchi T, Chirapapaisan N, Suphavilai R.

An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy.
Eur J Neurol. 2005 May;12(5):388-91.
PMID: 15804271 [PubMed - indexed for MEDLINE]

Bastress KL, Stajich JM, Speer MC, Gilbert JR.

The genes encoding for D4Z4 binding proteins HMGB2, YY1, NCL, and MYOD1 are excluded as candidate genes for FSHD1B.
Neuromuscul Disord. 2005 Apr;15(4):316-20. Epub 2005 Jan 28.
PMID: 15792872 [PubMed - indexed for MEDLINE]

Olsen DB, Orngreen MC, Vissing J.

Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy.
Neurology. 2005 Mar 22;64(6):1064-6.
PMID: 15781829 [PubMed - in process]

Hengstman GJ, van Brenk L, Vree Egberts WT, van der Kooi EL, Borm GF, Padberg GW, van Venrooij WJ, van Engelen BG.

High specificity of myositis specific autoantibodies for myositis compared with other neuromuscular disorders.
J Neurol. 2005 May;252(5):534-7. Epub 2005 Feb 23.
PMID: 15726253 [PubMed - in process]

Saenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camano P, Urtasun M, Vilchez J, Gutierrez-Rivas E, Emparanza J, Merlini L, Paisan C, Goicoechea M, Blazquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Marti-Masso JF, Lopez de Munain A.

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Brain. 2005 Apr;128(Pt 4):732-42. Epub 2005 Feb 2.
PMID: 15689361 [PubMed - indexed for MEDLINE]

Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM.

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
Hum Genet. 2005 Mar;116(4):262-6. Epub 2005 Jan 12.
PMID: 15645183 [PubMed - indexed for MEDLINE]

Laoudj-Chenivesse D, Carnac G, Bisbal C, Hugon G, Bouillot S, Desnuelle C, Vassetzky Y, Fernandez A.

Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle.
J Mol Med. 2005 Mar;83(3):216-24. Epub 2004 Nov 17.
PMID: 15551024 [PubMed - in process]

Dorobek M, Kabzinska D.

A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment.
Eur J Paediatr Neurol. 2004;8(6):313-6.
PMID: 15542386 [PubMed - indexed for MEDLINE]

Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM.

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
J Med Genet. 2004 Nov;41(11):826-36.
PMID: 15520407 [PubMed - in process]

Tam R, Smith KP, Lawrence JB.

The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres.
J Cell Biol. 2004 Oct 25;167(2):269-79.
PMID: 15504910 [PubMed - in process]

Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM.

Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy.
Am J Hum Genet. 2004 Dec;75(6):1124-30. Epub 2004 Oct 04.
PMID: 15467981 [PubMed - in process]

Guney E, Yigitbasi OG.

Functional surgical approach to the level I for staging early carcinoma of the lower lip.
Otolaryngol Head Neck Surg. 2004 Oct;131(4):503-8.
PMID: 15467626 [PubMed - indexed for MEDLINE]

van der Kooi EL, Vogels OJ, van Asseldonk RJ, Lindeman E, Hendriks JC, Wohlgemuth M, van der Maarel SM, Padberg GW.

Strength training and albuterol in facioscapulohumeral muscular dystrophy.
Neurology. 2004 Aug 24;63(4):702-8.
PMID: 15326246 [PubMed - in process]

Dorobek M, Kabzinska D, Ryniewicz B, Fidzianska-Dolot A, Hausmanowa-Petrusewicz I.

[Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report]
Neurol Neurochir Pol. 2004 Mar-Apr;38(2):83-8. Polish.
PMID: 15307599 [PubMed - indexed for MEDLINE]

Wu ZY, Wang ZQ, Murong SX, Wang N.

FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation.
Neurology. 2004 Aug 10;63(3):581-3.
PMID: 15304602 [PubMed - in process]

Wohlgemuth M, van der Kooi EL, van Kesteren RG, van der Maarel SM, Padberg GW.

Ventilatory support in facioscapulohumeral muscular dystrophy.
Neurology. 2004 Jul 13;63(1):176-8.
PMID: 15249635 [PubMed - in process]

Clapp J, Bolland DJ, Hewitt JE.

Genomic analysis of facioscapulohumeral muscular dystrophy.
Brief Funct Genomic Proteomic. 2003 Oct;2(3):213-23. Review.
PMID: 15239924 [PubMed - indexed for MEDLINE]

Masny PS, Bengtsson U, Chung SA, Martin JH, van Engelen B, van der Maarel SM, Winokur ST.

Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
Hum Mol Genet. 2004 Sep 1;13(17):1857-71. Epub 2004 Jul 06.
PMID: 15238509 [PubMed - in process]

Neudecker S, Krasnianski M, Bahn E, Zierz S.

Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature.
Acta Neuropathol (Berl). 2004 Sep;108(3):257-9. Epub 2004 Jun 24.
PMID: 15221332 [PubMed - in process]

Su QX, Zhang C, Xie YM, Zeng Y, Liu XR, Lu XL, Zhu YZ.

[Application of the Bgl II-Bln I dosage test to gene diagnosis of facioscapulohumeral muscular dystrophy 1A gene]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):245-7. Chinese.
PMID: 15192827 [PubMed - indexed for MEDLINE]

Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM.

Somatic mosaicism in FSHD often goes undetected.
Ann Neurol. 2004 Jun;55(6):845-50.
PMID: 15174019 [PubMed - indexed for MEDLINE]

Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM.

Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.
Am J Hum Genet. 2004 Jul;75(1):44-53. Epub 2004 May 20.
PMID: 15154112 [PubMed - indexed for MEDLINE]

Yang F, Shao C, Vedanarayanan V, Ehrlich M.

Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy.
Chromosoma. 2004 May;112(7):350-9. Epub 2004 May 11.
PMID: 15138770 [PubMed - in process]

Sharma S, Namrata S.

Association of schizophrenia and mental retardation with facio-scapulohumeral muscular dystrophy.
Neurol India. 2004 Mar;52(1):104-5.
PMID: 15069253 [PubMed - in process]

Yamanaka G, Goto K, Ishihara T, Oya Y, Miyajima T, Hoshika A, Nishino I, Hayashi YK.

FSHD-like patients without 4q35 deletion.
J Neurol Sci. 2004 Apr 15;219(1-2):89-93.
PMID: 15050443 [PubMed - indexed for MEDLINE]

Wood-Allum C, Brennan P, Hewitt M, Lowe J, Tyfield L, Wills A.

Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD).
Neuropathol Appl Neurobiol. 2004 Apr;30(2):188-91. No abstract available.
PMID: 15043716 [PubMed - indexed for MEDLINE]

Tupler R, Gabellini D.

Molecular basis of facioscapulohumeral muscular dystrophy.
Cell Mol Life Sci. 2004 Mar;61(5):557-66. Review.
PMID: 15004695 [PubMed - indexed for MEDLINE]

Tonini MM, Pavanello RC, Gurgel-Giannetti J, Lemmers RJ, van der Maarel SM, Frants RR, Zatz M.

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.
J Med Genet. 2004 Feb;41(2):e17. No abstract available.
PMID: 14757867 [PubMed - indexed for MEDLINE]