-
1
-
-
66549122709
-
Facioscapulohumeral muscular dystrophy: Epidemiological and molecular study in a north-west Italian population sample
-
Mosctacciulo ML, Pastorello E, Vazza G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-west Italian population sample. Clin Genet 2009; 75:550-555.
-
(2009)
Clin Genet
, vol.75
, pp. 550-555
-
-
Mosctacciulo, M.L.1
Pastorello, E.2
Vazza, G.3
-
2
-
-
69549097634
-
Sleep disordered breathing in facioscapulohumeral muscular dystrophy
-
Epub ahead of print
-
Della Marca G, Frusciante R, Dittoni S, et al. Sleep disordered breathing in facioscapulohumeral muscular dystrophy. J Neurol Sci 2009 [Epub ahead of print].
-
(2009)
J Neurol Sci
-
-
Della Marca, G.1
Frusciante, R.2
Dittoni, S.3
-
3
-
-
67049097536
-
Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy
-
Stübgen JP, Schultz G. Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy. Muscle Nerve 2009; 39:729-734.
-
(2009)
Muscle Nerve
, vol.39
, pp. 729-734
-
-
Stübgen, J.P.1
Schultz, G.2
-
4
-
-
56349107326
-
Facioscapulohumeral muscular dystrophy: A radiologic and manometric study of the pharynx and esophagus
-
Stübgen JP. Facioscapulohumeral muscular dystrophy: a radiologic and manometric study of the pharynx and esophagus. Dysphagia 2008; 23:341-347.
-
(2008)
Dysphagia
, vol.23
, pp. 341-347
-
-
Stübgen, J.P.1
-
5
-
-
37249009052
-
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function
-
Trevisan CP, Pastorello E, Ermani M. Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiol Neurootol 2008; 13:1-6.
-
(2008)
Audiol Neurootol
, vol.13
, pp. 1-6
-
-
Trevisan, C.P.1
Pastorello, E.2
Ermani, M.3
-
6
-
-
56049098801
-
Facioscapulohumeral muscular dystrophy: Hearing loss and other atypical features of patients with large 4q35 deletions
-
Trevisan CP, Pastorello E, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions. Eur J Neurol 2008; 15:1353-1358.
-
(2008)
Eur J Neurol
, vol.15
, pp. 1353-1358
-
-
Trevisan, C.P.1
Pastorello, E.2
Tomelleri, G.3
-
7
-
-
67049097536
-
Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy
-
Stübgen JP, Schultz C. Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy. Muscle Nerve 2009; 39:729-734.
-
(2009)
Muscle Nerve
, vol.39
, pp. 729-734
-
-
Stübgen, J.P.1
Schultz, C.2
-
8
-
-
38349157844
-
Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy
-
Jensen MP, Hoffman AJ, Stoelb BL, et al. Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy. Arch Phys Med Rehabil 2008; 89:320-328.
-
(2008)
Arch Phys Med Rehabil
, vol.89
, pp. 320-328
-
-
Jensen, M.P.1
Hoffman, A.J.2
Stoelb, B.L.3
-
9
-
-
70349088515
-
Impact of biopsychosocial factors on chronic pain in persons with myotonic and facioscapulohumeral muscular dystrophy
-
Epub ahead of print
-
Miro J, Raichle KA, Carter GT, et al. Impact of biopsychosocial factors on chronic pain in persons with myotonic and facioscapulohumeral muscular dystrophy. Am J Hosp Palliat Care 2009 [Epub ahead of print].
-
(2009)
Am J Hosp Palliat Care
-
-
Miro, J.1
Raichle, K.A.2
Carter, G.T.3
-
10
-
-
53649101950
-
Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue
-
Kalkman JS, Zwarts MJ, Schillings ML, et al. Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue. Neurol Sci 2008; 29 (Suppl 2):S238-S240.
-
(2008)
Neurol Sci
, vol.29
, Issue.SUPPL. 2
-
-
Kalkman, J.S.1
Zwarts, M.J.2
Schillings, M.L.3
-
11
-
-
33845941923
-
Experienced and physiological fatigue in neuromuscular disorders
-
Schillings ML, Kalkman JS, Janssen HM, et al. Experienced and physiological fatigue in neuromuscular disorders. Clin Neurophysiol 2007; 118:292-300.
-
(2007)
Clin Neurophysiol
, vol.118
, pp. 292-300
-
-
Schillings, M.L.1
Kalkman, J.S.2
Janssen, H.M.3
-
12
-
-
67349284686
-
Quantiative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy
-
Kan HE, Scheenen TW, Wolhgemuth M, et al. Quantiative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2009; 19:357-362.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 357-362
-
-
Kan, H.E.1
Scheenen, T.W.2
Wolhgemuth, M.3
-
13
-
-
35348907287
-
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
-
Lemmers RJ, Wohlgemuth M, van der Gaag KJ, et al. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007; 81:884-894.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 884-894
-
-
Lemmers, R.J.1
Wohlgemuth, M.2
Van Der Gaag, K.J.3
-
14
-
-
33644522383
-
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
-
Gabellini D, D'Antona G, Moggio M, et al. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 2006; 439:937-947.
-
(2006)
Nature
, vol.439
, pp. 937-947
-
-
Gabellini, D.1
D'Antona, G.2
Moggio, M.3
-
15
-
-
33847234593
-
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
-
Osborne RJ, Welle S, Venance SL. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 2007; 68:569-577.
-
(2007)
Neurology
, vol.68
, pp. 569-577
-
-
Osborne, R.J.1
Welle, S.2
Venance, S.L.3
-
16
-
-
36749026295
-
DUX4, a candidate gene of facioscapulohumeral muscular dystropy encodes a transcriptional activator of PITX1
-
Dixit M, Ansseau E, Tassin A, et al. DUX4, a candidate gene of facioscapulohumeral muscular dystropy encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A 2007; 104:18157-18162.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 18157-18162
-
-
Dixit, M.1
Ansseau, E.2
Tassin, A.3
-
17
-
-
61449143604
-
The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facioscapulo- humeral dystrophy
-
Ottaviani A, Rival-Gervier S, Boussouar A, et al. The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facioscapulo- humeral dystrophy. PLoS Genet 2009; 5:e1000394.
-
(2009)
PLoS Genet
, vol.5
-
-
Ottaviani, A.1
Rival-Gervier, S.2
Boussouar, A.3
-
18
-
-
55949083347
-
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy
-
de Greef JC, Frants RR, van der Maarel SM, et al. Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutat Res 2008; 647:94-102.
-
(2008)
Mutat Res
, vol.647
, pp. 94-102
-
-
De Greef, J.C.1
Frants, R.R.2
Van Der Maarel, S.M.3
-
19
-
-
68249088114
-
Specific loss of histone H3 lysine 9 trimethylation and HP1 g/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)
-
Zeng FW, de Greef JC, Chen Y-Y. Specific loss of histone H3 lysine 9 trimethylation and HP1 g/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet 2009; 5:1-14.
-
(2009)
PLoS Genet
, vol.5
, pp. 1-14
-
-
Zeng, F.W.1
De Greef, J.C.2
Chen, Y.-Y.3
-
20
-
-
33646485687
-
Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts
-
Petrov A, Pirozkhova I, Carnac G, et al. Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci U S A 2006; 103:6982-6987.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 6982-6987
-
-
Petrov, A.1
Pirozkhova, I.2
Carnac, G.3
-
21
-
-
54449097230
-
A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy
-
Pirozhova I, Petrov A, Dmitriev P, et al. A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy. PLoS ONE 2008; 3:1-9.
-
(2008)
PLoS ONE
, vol.3
, pp. 1-9
-
-
Pirozhova, I.1
Petrov, A.2
Dmitriev, P.3
-
22
-
-
32644441628
-
Nuclear envelope dystrophies show a transcritpional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
-
Bakay M, Wang Z, Melcon G, et al. Nuclear envelope dystrophies show a transcritpional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 2006; 129 (Pt 4):996-1013.
-
(2006)
Brain
, vol.129
, Issue.PART 4
, pp. 996-1013
-
-
Bakay, M.1
Wang, Z.2
Melcon, G.3
-
23
-
-
66349093652
-
Muscular dystrophy candidate gene FRG1 is critical for muscle development
-
Hanel ML, Wuebbles RD, Jones PL. Muscular dystrophy candidate gene FRG1 is critical for muscle development. Dev Dyn 2009; 238:1502-1512.
-
(2009)
Dev Dyn
, vol.238
, pp. 1502-1512
-
-
Hanel, M.L.1
Wuebbles, R.D.2
Jones, P.L.3
-
24
-
-
67650314502
-
FSHD region 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy
-
Wuebbles RD, Hanel ML, Jones PL. FSHD region 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy. Dis Model Mech 2009; 2:267-274.
-
(2009)
Dis Model Mech
, vol.2
, pp. 267-274
-
-
Wuebbles, R.D.1
Hanel, M.L.2
Jones, P.L.3
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