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Items: 1 to 20 of 108

1.

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.

2.

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy.

Fitzgerald BP, Conn KM, Smith J, Walker A, Parkhill AL, Hilbert JE, Luebbe EA, Moxley RT III.

J Neurol. 2016 Dec;263(12):2528-2537. Epub 2016 Oct 12.

PMID:
27734165
3.

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H.

J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.

4.

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.

5.

Influence of relatives on fatigue experienced by patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I.

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

Eur Neurol. 2006;56(1):24-30. Epub 2006 Aug 17.

PMID:
16914927
6.

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
7.

Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I.

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

Acta Neurol Scand. 2007 Apr;115(4):265-70.

PMID:
17376125
8.

Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy.

Gadalla SM, Hilbert JE, Martens WB, Givens S, Moxley RT 3rd, Greene MH.

Eur J Neurol. 2017 May;24(5):713-718. doi: 10.1111/ene.13276. Epub 2017 Mar 20.

PMID:
28317292
9.

Population-based incidence and prevalence of facioscapulohumeral dystrophy.

Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, Weinreich SS, Verbeek AL, van Engelen BG.

Neurology. 2014 Sep 16;83(12):1056-9. doi: 10.1212/WNL.0000000000000797. Epub 2014 Aug 13.

10.

Prevalence and correlates of apathy in myotonic dystrophy type 1.

Gallais B, Montreuil M, Gargiulo M, Eymard B, Gagnon C, Laberge L.

BMC Neurol. 2015 Aug 22;15:148. doi: 10.1186/s12883-015-0401-6.

12.

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.

13.

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
14.

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
15.

Metabolic status of patients with muscular dystrophy in early phase of the disease: In vitro, high resolution NMR spectroscopy based metabolomics analysis of serum.

Srivastava NK, Annarao S, Sinha N.

Life Sci. 2016 Apr 15;151:122-9. doi: 10.1016/j.lfs.2016.01.032. Epub 2016 Feb 28.

PMID:
26930370
16.

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
17.

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.

18.

Strength training and aerobic exercise training for muscle disease.

Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC.

Cochrane Database Syst Rev. 2013 Jul 9;(7):CD003907. doi: 10.1002/14651858.CD003907.pub4. Review.

PMID:
23835682
19.

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.

20.

Impact of biopsychosocial factors on chronic pain in persons with myotonic and facioscapulohumeral muscular dystrophy.

Miró J, Raichle KA, Carter GT, O'Brien SA, Abresch RT, McDonald CM, Jensen MP.

Am J Hosp Palliat Care. 2009 Aug-Sep;26(4):308-19. doi: 10.1177/1049909109335146. Epub 2009 May 4.

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