-
1
-
-
13844300319
-
Facioscapulohumeral muscular dystrophy: a clinician's experience
-
Upadhaya M, Cooper DN, editors. Abingdon, UK: Garland Science/BIOS Scientific
-
Padberg GW. Facioscapulohumeral muscular dystrophy: a clinician's experience. In: Upadhaya M, Cooper DN, editors. Facioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology. Abingdon, UK: Garland Science/BIOS Scientific; 2004. p 41-54.
-
(2004)
Facioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology
, pp. 41-54
-
-
Padberg, G.W.1
-
2
-
-
0003006469
-
Facioscapulohumeral muscular dystrophy
-
Rosenberg RN, Prusner SB, Di Mauro S, Barchi RL, editors. Boston: Butterworth Heinemann
-
Tawil R, Griggs RC. Facioscapulohumeral muscular dystrophy. In: Rosenberg RN, Prusner SB, Di Mauro S, Barchi RL, editors. The molecular and genetic basis of neurological disease. Boston: Butterworth Heinemann; 1997. p 931-938.
-
(1997)
The molecular and genetic basis of neurological disease
, pp. 931-938
-
-
Tawil, R.1
Griggs, R.C.2
-
3
-
-
0029791312
-
Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis
-
Kohler J, Rupilius B, Otto M, Bathke K, Koch MC. Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis. Hum Genet 1996; 98: 485-490.
-
(1996)
Hum Genet
, vol.98
, pp. 485-490
-
-
Kohler, J.1
Rupilius, B.2
Otto, M.3
Bathke, K.4
Koch, M.C.5
-
4
-
-
84861742993
-
Facioscapulohumeral dystrophy
-
Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Seattle, WA: University of Washington; 1993-1999 March 8 [updated July 9
-
Lemmers RJLF, van der Maarel SM. Facioscapulohumeral dystrophy. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle, WA: University of Washington; 1993-1999 March 8 [updated July 9, 2009].
-
(2009)
GeneReviews [Internet]
-
-
Lemmers, R.J.L.F.1
van der Maarel, S.M.2
-
6
-
-
0029913030
-
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
-
Deidda G, Cacurri S, Piazzo N, Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 1996; 33: 361-365.
-
(1996)
J Med Genet
, vol.33
, pp. 361-365
-
-
Deidda, G.1
Cacurri, S.2
Piazzo, N.3
Felicetti, L.4
-
7
-
-
0031915927
-
Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis
-
FSH Consortium
-
Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B, and the FSH Consortium. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. Ann Neurol 1998; 43: 279-282.
-
(1998)
Ann Neurol
, vol.43
, pp. 279-282
-
-
Tawil, R.1
Figlewicz, D.A.2
Griggs, R.C.3
Weiffenbach, B.4
-
8
-
-
84859514536
-
Upadhyaya M. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
-
Richards M, Coppele F, Thomas N, Belayew A, Upadhyaya M. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Hum Genet 2012; 131: 325-340.
-
(2012)
Hum Genet
, vol.131
, pp. 325-340
-
-
Richards, M.1
Coppele, F.2
Thomas, N.3
Belayew, A.4
-
9
-
-
0029038951
-
Correlation between fragment size at D4F104S1 and age at onset of wheelchair use, with a possible generational effect, accounts for much of the phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
-
Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, et al. Correlation between fragment size at D4F104S1 and age at onset of wheelchair use, with a possible generational effect, accounts for much of the phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995; 4: 951-958.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 951-958
-
-
Lunt, P.W.1
Jardine, P.E.2
Koch, M.C.3
Maynard, J.4
Osborn, M.5
Williams, M.6
-
10
-
-
0029984970
-
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy
-
Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 1996; 39: 744-748.
-
(1996)
Ann Neurol
, vol.39
, pp. 744-748
-
-
Tawil, R.1
Forrester, J.2
Griggs, R.C.3
Mendell, J.4
Kissel, J.5
McDermott, M.6
-
11
-
-
84858800356
-
Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy
-
Wang CH, Leung M, Liang WC, Hsieh TJ, Chen TH, Jong YJ. Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy. http://dx.doi.org/10.1016/j.mnd.2011.10.018.
-
-
-
Wang, C.H.1
Leung, M.2
Liang, W.C.3
Hsieh, T.J.4
Chen, T.H.5
Jong, Y.J.6
-
12
-
-
0028153917
-
Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions
-
Wijmenga C, van Deutekom JCT, Hewitt JE, Padberg GW, van Ommen GJB, Hofker MH, et al. Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics 1994; 19: 21-26.
-
(1994)
Genomics
, vol.19
, pp. 21-26
-
-
Wijmenga, C.1
van Deutekom, J.C.T.2
Hewitt, J.E.3
Padberg, G.W.4
van Ommen, G.J.B.5
Hofker, M.H.6
-
13
-
-
0034705182
-
FSH dystrophy 4q35 deletion in patients with facial-sparing scapular myopathy
-
Felice KJ, North WA, Moore SA, Mathews KD. FSH dystrophy 4q35 deletion in patients with facial-sparing scapular myopathy. Neurology 2000; 54: 1927-1931.
-
(2000)
Neurology
, vol.54
, pp. 1927-1931
-
-
Felice, K.J.1
North, W.A.2
Moore, S.A.3
Mathews, K.D.4
-
14
-
-
0028067906
-
A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy
-
Jardine PE, Upadhaya M, Maynard J, Harper P, Lunt PW. A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1994; 4: 477-482.
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 477-482
-
-
Jardine, P.E.1
Upadhaya, M.2
Maynard, J.3
Harper, P.4
Lunt, P.W.5
-
15
-
-
0141924432
-
Atypical phenotypes in patients with facioscapulohumeral dystrophy
-
Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S. Atypical phenotypes in patients with facioscapulohumeral dystrophy. Arch Neurol 2003; 60: 1421-1425.
-
(2003)
Arch Neurol
, vol.60
, pp. 1421-1425
-
-
Krasnianski, M.1
Eger, K.2
Neudecker, S.3
Jakubiczka, S.4
Zierz, S.5
-
16
-
-
77954384942
-
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy
-
Reilich R, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Muller Hocker J, et al. Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol 2010; 257: 1108-1118.
-
(2010)
J Neurol
, vol.257
, pp. 1108-1118
-
-
Reilich, R.1
Schramm, N.2
Schoser, B.3
Schneiderat, P.4
Strigl-Pill, N.5
Muller Hocker, J.6
-
17
-
-
0035114546
-
Unusual presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion
-
Felice KJ, Moore SA. Unusual presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion. Muscle Nerve 200; 24: 352-356.
-
Muscle Nerve 200
, vol.24
, pp. 352-356
-
-
Felice, K.J.1
Moore, S.A.2
-
18
-
-
0034125804
-
Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases
-
van der Kooi AJ, Visser MC, Rosenberg N, van den Berg-Vos R, Wokke JH, Bakker E, et al. Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. J Neurol Neurosurg Psychiatry 2000; 69: 114-116.
-
(2000)
J Neurol Neurosurg Psychiatry
, vol.69
, pp. 114-116
-
-
van der Kooi, A.J.1
Visser, M.C.2
Rosenberg, N.3
van den Berg-Vos, R.4
Wokke, J.H.5
Bakker, E.6
-
19
-
-
0036837607
-
Facioscapulohumeral muscular dystrophypresenting as isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement
-
Uncini A, Galuzzi G, Di Muzio A, De Angelis MV, Ricci E, Scopetta C, et al. Facioscapulohumeral muscular dystrophypresenting as isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement. Neuromuscul Disord 2002; 12: 874-877.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 874-877
-
-
Uncini, A.1
Galuzzi, G.2
Di Muzio, A.3
De Angelis, M.V.4
Ricci, E.5
Scopetta, C.6
-
20
-
-
1942534070
-
Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSH)
-
Wood-Allum C, Brennan P, Hewitt M, Lowe J, Tyfield I, Wills A. Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSH). Neuropathol Appl Neurobiol 2004; 30: 188-191.
-
(2004)
Neuropathol Appl Neurobiol
, vol.30
, pp. 188-191
-
-
Wood-Allum, C.1
Brennan, P.2
Hewitt, M.3
Lowe, J.4
Tyfield, I.5
Wills, A.6
-
21
-
-
77955158764
-
Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome
-
Kottlors M, Kress W, Meng G, Glocker FX. Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome. Muscle Nerve 2010; 42: 273-275.
-
(2010)
Muscle Nerve
, vol.42
, pp. 273-275
-
-
Kottlors, M.1
Kress, W.2
Meng, G.3
Glocker, F.X.4
-
22
-
-
79959908300
-
Camptocormia phenotype of FSHD: a clinical and MRI study on six patients
-
Jordan B, Eger K, Koesling S, Zierz S. Camptocormia phenotype of FSHD: a clinical and MRI study on six patients. J Neurol 2011; 258: 866-873.
-
(2011)
J Neurol
, vol.258
, pp. 866-873
-
-
Jordan, B.1
Eger, K.2
Koesling, S.3
Zierz, S.4
-
23
-
-
0032477313
-
Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports
-
Bushby KM, Pollitt C, Johnson MA, Rogers MT, Chinnery PF. Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports. Neuromuscul Disord 1998; 8: 574-579.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 574-579
-
-
Bushby, K.M.1
Pollitt, C.2
Johnson, M.A.3
Rogers, M.T.4
Chinnery, P.F.5
-
24
-
-
68249158147
-
Teaching NeuroImages: hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy
-
Sugie K, Hayashi YK, Kin T, Goto K, Nishino I, Ueno S. Teaching NeuroImages: hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy. Neurology 2009; 73: e24.
-
(2009)
Neurology
, vol.73
-
-
Sugie, K.1
Hayashi, Y.K.2
Kin, T.3
Goto, K.4
Nishino, I.5
Ueno, S.6
-
25
-
-
77951206247
-
Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy
-
Figueroa JJ, Chapin JE. Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy. J Neurol 2010; 257: 444-446.
-
(2010)
J Neurol
, vol.257
, pp. 444-446
-
-
Figueroa, J.J.1
Chapin, J.E.2
-
26
-
-
0035964163
-
Tongue atrophy in facioscapulohumeral muscular dystrophy
-
Yamanaka G, Goto K, Matsumura T, Funakoshi M, Komori T, Hayashi YK, et al. Tongue atrophy in facioscapulohumeral muscular dystrophy. Neurology 2001; 57: 733-735.
-
(2001)
Neurology
, vol.57
, pp. 733-735
-
-
Yamanaka, G.1
Goto, K.2
Matsumura, T.3
Funakoshi, M.4
Komori, T.5
Hayashi, Y.K.6
-
27
-
-
0028930856
-
On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy
-
Padberg G, Brouwer OF, de Keizer RJ, Dijkman G, Wijmenga C, Grote JJ, et al. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 1995; 37(suppl 2): S73-S80.
-
(1995)
Muscle Nerve
, vol.37
, Issue.SUPPL. 2
-
-
Padberg, G.1
Brouwer, O.F.2
de Keizer, R.J.3
Dijkman, G.4
Wijmenga, C.5
Grote, J.J.6
-
29
-
-
38349157844
-
Chronic pain in persons with myotonic and facioscapulohumeral muscular dystrophy
-
Jensen MP, Hoffman AJ, Stoelb BL, Abresch RT, Carter GT, McDonald CM. Chronic pain in persons with myotonic and facioscapulohumeral muscular 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
Abresch, R.T.4
Carter, G.T.5
McDonald, C.M.6
-
30
-
-
3242666915
-
Ventilatory support in facioscapulohumeral muscular dystrophy
-
Wohlgemuth M, van der Kooi EL, van Kesteren RG, van der Maarel SM, Padberg GW. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology 2004; 63: 176-178.
-
(2004)
Neurology
, vol.63
, pp. 176-178
-
-
Wohlgemuth, M.1
van der Kooi, E.L.2
van Kesteren, R.G.3
van der Maarel, S.M.4
Padberg, G.W.5
-
31
-
-
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
-
32
-
-
12544250255
-
Ventilatory support in facioscapulohumeral muscular dystrophy
-
Carter GT, Bird TD. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology 2005; 64: 401.
-
(2005)
Neurology
, vol.64
, pp. 401
-
-
Carter, G.T.1
Bird, T.D.2
-
33
-
-
0028801374
-
Profiles of neuromuscular disease: facioscapulohumeral dystrophy
-
Kilmer DD, Abresch RT, Aitkens SG, Carter GT, Fowler WM, Johnson ER, et al. Profiles of neuromuscular disease: facioscapulohumeral dystrophy. Am J Phys Med Rehabil 1995; 74(suppl): S131-139.
-
(1995)
Am J Phys Med Rehabil
, vol.74
, Issue.SUPPL.
-
-
Kilmer, D.D.1
Abresch, R.T.2
Aitkens, S.G.3
Carter, G.T.4
Fowler, W.M.5
Johnson, E.R.6
-
34
-
-
84948180278
-
Atypical onset in a series of 122 cases with facioscapulohumeral muscular dystrophy
-
Pastorello E, Cao M, Trevisan CP. Atypical onset in a series of 122 cases with facioscapulohumeral muscular dystrophy. http://dx.doi.org/10.1016/j.bbr.2011.03.031.
-
-
-
Pastorello, E.1
Cao, M.2
Trevisan, C.P.3
-
35
-
-
0036220748
-
Facioscapulohumeral muscular dystrophy with EcoRI/BInI fragment size of more than 32 kb
-
Vielhaber S, Jakubiczka S, Schroder JM, Sailer M, Feistner H, Heinze H, et al. Facioscapulohumeral muscular dystrophy with EcoRI/BInI fragment size of more than 32 kb. Muscle Nerve 2002; 25: 540-548.
-
(2002)
Muscle Nerve
, vol.25
, pp. 540-548
-
-
Vielhaber, S.1
Jakubiczka, S.2
Schroder, J.M.3
Sailer, M.4
Feistner, H.5
Heinze, H.6
-
36
-
-
0041379846
-
Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers
-
Butz M, Koch MC, Muller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H. Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. J Neurol 2003; 250: 932-937.
-
(2003)
J Neurol
, vol.250
, pp. 932-937
-
-
Butz, M.1
Koch, M.C.2
Muller-Felber, W.3
Lemmers, R.J.4
van der Maarel, S.M.5
Schreiber, H.6
-
37
-
-
0028961960
-
Inflammatory response in facioscapulohumeral muscular dystrophy (FHSD): immunocytochemical and genetic analyses
-
Arahata K, Ishihara T, Fukunaga H, Orimo S, Lee JH, Goto K, Nonaka I. Inflammatory response in facioscapulohumeral muscular dystrophy (FHSD): immunocytochemical and genetic analyses. Muscle Nerve 1995; 2(suppl): S56-66.
-
(1995)
Muscle Nerve
, vol.2
, Issue.SUPPL.
-
-
Arahata, K.1
Ishihara, T.2
Fukunaga, H.3
Orimo, S.4
Lee, J.H.5
Goto, K.6
Nonaka, I.7
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