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Results: 1 to 20 of 109

1.

Risk of functional impairment in Facioscapulohumeral muscular dystrophy.

Statland JM, Tawil R.

Muscle Nerve. 2014 Apr;49(4):520-7. doi: 10.1002/mus.23949. Epub 2014 Feb 10.

PMID:
23873337
[PubMed - indexed for MEDLINE]
2.

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R.

Brain. 2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11.

PMID:
24030947
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.

Statland JM, Sacconi S, Farmakidis C, Donlin-Smith CM, Chung M, Tawil R.

Neurology. 2013 Mar 26;80(13):1247-50. doi: 10.1212/WNL.0b013e3182897116. Epub 2013 Feb 27.

PMID:
23446679
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

Wang ZQ, Wang N, van der Maarel S, Murong SX, Wu ZY.

Eur J Hum Genet. 2011 Jan;19(1):64-9. doi: 10.1038/ejhg.2010.143. Epub 2010 Aug 25.

PMID:
20736973
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Patient-identified disease burden in facioscapulohumeral muscular dystrophy.

Johnson NE, Quinn C, Eastwood E, Tawil R, Heatwole CR.

Muscle Nerve. 2012 Dec;46(6):951-3. doi: 10.1002/mus.23529.

PMID:
23225386
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Severe phenotype in infantile facioscapulohumeral muscular dystrophy.

Klinge L, Eagle M, Haggerty ID, Roberts CE, Straub V, Bushby KM.

Neuromuscul Disord. 2006 Oct;16(9-10):553-8. Epub 2006 Aug 24.

PMID:
16934468
[PubMed - indexed for MEDLINE]
7.

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.

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

J Med Genet. 2007 Mar;44(3):215-8. Epub 2006 Sep 20.

PMID:
16987949
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy.

Ki CS, Lee ST, Kim KS, Kim JW, Hong YH, Sung JJ, Park KS, Lee KW.

J Korean Med Sci. 2008 Dec;23(6):959-63. doi: 10.3346/jkms.2008.23.6.959. Epub 2008 Dec 23.

PMID:
19119436
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy.

Pastorello E, Cao M, Trevisan CP.

Clin Neurol Neurosurg. 2012 Apr;114(3):230-4. doi: 10.1016/j.clineuro.2011.10.022. Epub 2011 Nov 12.

PMID:
22079131
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Ventilatory support in facioscapulohumeral muscular dystrophy.

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

Neurology. 2004 Jul 13;63(1):176-8.

PMID:
15249635
[PubMed - indexed for MEDLINE]
11.

Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction.

Turki A, Hayot M, Carnac G, Pillard F, Passerieux E, Bommart S, Raynaud de Mauverger E, Hugon G, Pincemail J, Pietri S, Lambert K, Belayew A, Vassetzky Y, Juntas Morales R, Mercier J, Laoudj-Chenivesse D.

Free Radic Biol Med. 2012 Sep 1;53(5):1068-79. doi: 10.1016/j.freeradbiomed.2012.06.041. Epub 2012 Jul 11.

PMID:
22796148
[PubMed - indexed for MEDLINE]
12.

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K.

PLoS Genet. 2009 Jul;5(7):e1000559. doi: 10.1371/journal.pgen.1000559. Epub 2009 Jul 10.

PMID:
19593370
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.

Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R.

J Med Genet. 2012 Mar;49(3):171-8. doi: 10.1136/jmedgenet-2011-100454. Epub 2012 Jan 3.

PMID:
22217918
[PubMed - indexed for MEDLINE]
14.

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.

Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R.

Muscle Nerve. 2010 Aug;42(2):213-7. doi: 10.1002/mus.21671.

PMID:
20544930
[PubMed - indexed for MEDLINE]
15.

Focal and other unusual presentations of facioscapulohumeral muscular dystrophy.

Hassan A, Jones LK Jr, Milone M, Kumar N.

Muscle Nerve. 2012 Sep;46(3):421-5. doi: 10.1002/mus.23358.

PMID:
22907234
[PubMed - indexed for MEDLINE]
16.

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

Sacconi S, Camaño P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, Lopez de Munain Arregui A, van der Maarel SM, Desnuelle C.

J Med Genet. 2012 Jan;49(1):41-6. doi: 10.1136/jmedgenet-2011-100101. Epub 2011 Oct 7.

PMID:
21984748
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Facioscapulohumeral muscular dystrophy: a radiologic and manometric study of the pharynx and esophagus.

Stübgen JP.

Dysphagia. 2008 Dec;23(4):341-7. doi: 10.1007/s00455-007-9141-0. Epub 2008 Feb 8.

PMID:
18259705
[PubMed - indexed for MEDLINE]
18.

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).

Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT 3rd; Registry Scientific Advisory Committee.

Contemp Clin Trials. 2012 Mar;33(2):302-11. doi: 10.1016/j.cct.2011.11.016. Epub 2011 Nov 26.

PMID:
22155025
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy.

Rogers MT, Zhao F, Harper PS, Stephens D.

Neuromuscul Disord. 2002 May;12(4):358-65.

PMID:
12062253
[PubMed - indexed for MEDLINE]
20.

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.

Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R.

Neurology. 2007 Feb 20;68(8):569-77. Epub 2006 Dec 6.

PMID:
17151338
[PubMed - indexed for MEDLINE]

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