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Items: 1 to 20 of 107

1.

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.

2.

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
3.

Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy.

Jensen MP, Hoffman AJ, Stoelb BL, Abresch RT, Carter GT, McDonald CM.

Arch Phys Med Rehabil. 2008 Feb;89(2):320-8. doi: 10.1016/j.apmr.2007.08.153.

4.

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011.

Attarian S, Salort-Campana E, Nguyen K, Behin A, Andoni Urtizberea J.

Rev Neurol (Paris). 2012 Dec;168(12):910-8. doi: 10.1016/j.neurol.2011.11.008. Epub 2012 Apr 30. Review.

PMID:
22551571
5.

Health-related quality of life in ALS, myasthenia gravis and facioscapulohumeral muscular dystrophy.

Winter Y, Schepelmann K, Spottke AE, Claus D, Grothe C, Schröder R, Heuss D, Vielhaber S, Tackenberg B, Mylius V, Reese JP, Kiefer R, Schrank B, Oertel WH, Dodel R.

J Neurol. 2010 Sep;257(9):1473-81. doi: 10.1007/s00415-010-5549-9. Epub 2010 Apr 10.

PMID:
20383521
6.

Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.

Krasnianski M, Neudecker S, Eger K, Jakubiczka S, Zierz S.

J Neurol. 2003 Sep;250(9):1084-7.

PMID:
14504970
7.

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.

8.

Pain location and intensity impacts function in persons with myotonic dystrophy type 1 and facioscapulohumeral dystrophy with chronic pain.

Miró J, Gertz KJ, Carter GT, Jensen MP.

Muscle Nerve. 2014 Jun;49(6):900-5. doi: 10.1002/mus.24079.

PMID:
24415580
9.

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.

10.

Diagnostic challenges in facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Bourget I, Figarella D, Péréon Y, Lemmers R, van der Maarel S, Desnuelle C.

Neurology. 2006 Oct 24;67(8):1464-6.

PMID:
17060574
11.

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
12.

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, Galluzzi G, Trevisan CP.

Clin Genet. 2009 Jun;75(6):550-5. doi: 10.1111/j.1399-0004.2009.01158.x. Epub 2009 Mar 23.

PMID:
19320656
13.

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
14.

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
15.

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.

16.

Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy.

Leung DG, Carrino JA, Wagner KR, Jacobs MA.

Muscle Nerve. 2015 Oct;52(4):512-20. doi: 10.1002/mus.24569. Epub 2015 Mar 31.

PMID:
25641525
17.

Sleep disordered breathing in facioscapulohumeral muscular dystrophy.

Della Marca G, Frusciante R, Dittoni S, Vollono C, Buccarella C, Iannaccone E, Rossi M, Scarano E, Pirronti T, Cianfoni A, Mazza S, Tonali PA, Ricci E.

J Neurol Sci. 2009 Oct 15;285(1-2):54-8. doi: 10.1016/j.jns.2009.05.014. Epub 2009 Jun 5.

PMID:
19501370
18.

[Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes].

Krasnianski M, Neudecker S, Eger K, Schulte-Mattler W, Zierz S.

Nervenarzt. 2003 Feb;74(2):151-8. German.

PMID:
12596016
19.

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
20.

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
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