-
1
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LH, Wright TJ, Dauwerse HG. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nature Genetics 1992 2 : 26 30.
-
(1992)
Nature Genetics
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
Clark, L.H.4
Wright, T.J.5
Dauwerse, H.G.6
-
2
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
Van Deutekom JC, Wijmenga C, Van Tienhoven EA, et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Human Molecular Genetics 1993 12 : 2037 2042.
-
(1993)
Human Molecular Genetics
, vol.12
, pp. 2037-2042
-
-
Van Deutekom, J.C.1
Wijmenga, C.2
Van Tienhoven, E.A.3
-
3
-
-
0033402111
-
Facioscapulohumeral muscular dystrophy (review)
-
Fitzsimons RB. Facioscapulohumeral muscular dystrophy (review). Current Opinion in Neurology 1999 12 : 501 511.
-
(1999)
Current Opinion in Neurology
, vol.12
, pp. 501-511
-
-
Fitzsimons, R.B.1
-
6
-
-
0028927652
-
Early onset facioscapulohumeral muscular dystrophy
-
Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR. Early onset facioscapulohumeral muscular dystrophy. Muscle and Nerve 1995 2 : S67 S72.
-
(1995)
Muscle and Nerve
, vol.2
-
-
Brouwer, O.F.1
Padberg, G.W.2
Bakker, E.3
Wijmenga, C.4
Frants, R.R.5
-
7
-
-
0028930856
-
On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy
-
Padberg GW, Brouwer OF, de Keizer RJW, et al. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle and Nerve 1995 2 : S73 S80.
-
(1995)
Muscle and Nerve
, vol.2
-
-
Padberg, G.W.1
Brouwer, O.F.2
De Keizer, R.J.W.3
-
8
-
-
0036226446
-
Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy
-
Rogers MT, Zhao F, Harper PS, Stephens D. Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy. Neuromuscular Disorders 2002 12 : 358 365.
-
(2002)
Neuromuscular Disorders
, vol.12
, pp. 358-365
-
-
Rogers, M.T.1
Zhao, F.2
Harper, P.S.3
Stephens, D.4
-
9
-
-
37249009052
-
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function
-
Trevisan CP, Pastorello E, Ermani M, et al. Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiology and Neurotology 2008 13 : 1 6.
-
(2008)
Audiology and Neurotology
, vol.13
, pp. 1-6
-
-
Trevisan, C.P.1
Pastorello, E.2
Ermani, M.3
-
10
-
-
0003223434
-
Facioscapulohumeral muscular dystrophy
-
In: Emery, A.E.H., ed. Baarn, The Netherlands: ENMC
-
Padberg GW, Lunt PW, Koch M, Fardeau M. Facioscapulohumeral muscular dystrophy. In : Emery AEH, ed. Diagnostic Criteria for Neuromuscular Disorders. Baarn, The Netherlands : ENMC, 1997 : 9 15.
-
(1997)
Diagnostic Criteria for Neuromuscular Disorders.
, pp. 9-15
-
-
Padberg, G.W.1
Lunt, P.W.2
Koch, M.3
Fardeau, M.4
-
11
-
-
0032765619
-
Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): Application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease
-
Galluzzi G, Deidda G, Cacurri S, et al. Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease. Neuromuscular Disorders 1999 9 : 190 198.
-
(1999)
Neuromuscular Disorders
, vol.9
, pp. 190-198
-
-
Galluzzi, G.1
Deidda, G.2
Cacurri, S.3
-
15
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases - A world survey
-
Emery AEH. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscular Disorders 1991 1 : 19 29.
-
(1991)
Neuromuscular Disorders
, vol.1
, pp. 19-29
-
-
Emery, A.E.H.1
-
16
-
-
37249082680
-
Epidemiology of facioscapulohumeral muscular dystrophy in north-east Italy
-
Pastorello E, Mostacciuolo ML, Vazza G, et al. Epidemiology of facioscapulohumeral muscular dystrophy in north-east Italy. Neurological Sciences 2006 27 : S150.
-
(2006)
Neurological Sciences
, vol.27
-
-
Pastorello, E.1
Mostacciuolo, M.L.2
Vazza, G.3
-
17
-
-
0031777331
-
Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy
-
Funakoshi M, Goto K, Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 1998 50 : 1791 1794.
-
(1998)
Neurology
, vol.50
, pp. 1791-1794
-
-
Funakoshi, M.1
Goto, K.2
Arahata, K.3
-
18
-
-
33745177796
-
Facioscapulohumeral muscular dystrophy can be a cause of isolated childhood cognitive dysfunction
-
Hobson-Webb LD, Caress JB. Facioscapulohumeral muscular dystrophy can be a cause of isolated childhood cognitive dysfunction. Journal of Child Neurology 2006 21 : 252 253.
-
(2006)
Journal of Child Neurology
, vol.21
, pp. 252-253
-
-
Hobson-Webb, L.D.1
Caress, J.B.2
-
19
-
-
33847100503
-
Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy
-
Saito Y, Miyashita S, Yokoyama A, et al. Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy. Brain and Development 2007 4 : 231 233.
-
(2007)
Brain and Development
, vol.4
, pp. 231-233
-
-
Saito, Y.1
Miyashita, S.2
Yokoyama, A.3
-
20
-
-
33748573261
-
Severe phenotype in infantile facioscapulohumeral muscular dystrophy
-
Klinge L, Eagle M, Haggerty ID, Roberts CE, Straub V, Bushby KM. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Neuromuscular Disorders 2006 16 : 553 558.
-
(2006)
Neuromuscular Disorders
, vol.16
, pp. 553-558
-
-
Klinge, L.1
Eagle, M.2
Haggerty, I.D.3
Roberts, C.E.4
Straub, V.5
Bushby, K.M.6
-
21
-
-
0027939537
-
De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1)
-
Jardine PE, Koch MC, Lunt PW, et al. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). Archives of Disease in Childhood 1994 71 : 221 227.
-
(1994)
Archives of Disease in Childhood
, vol.71
, pp. 221-227
-
-
Jardine, P.E.1
Koch, M.C.2
Lunt, P.W.3
-
22
-
-
0032978703
-
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
-
Ricci E, Galluzzi G, Deidda G, et al. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Annals of Neurology 1999 45 : 751 757.
-
(1999)
Annals of Neurology
, vol.45
, pp. 751-757
-
-
Ricci, E.1
Galluzzi, G.2
Deidda, G.3
-
23
-
-
41549142597
-
Novel mitochondrial tRNA(Leu(CUN)) transition and D4Z4 partial deletion in a patient with facioscapulohumeral muscular phenotype
-
Filosto M, Tonin P, Scarpelli M, et al. Novel mitochondrial tRNA(Leu(CUN)) transition and D4Z4 partial deletion in a patient with facioscapulohumeral muscular phenotype. Neuromuscular Disorders 2008 18 : 204 209.
-
(2008)
Neuromuscular Disorders
, vol.18
, pp. 204-209
-
-
Filosto, M.1
Tonin, P.2
Scarpelli, M.3
-
24
-
-
33748493420
-
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia
-
Trevisan CP, Pastorello E, Armani M, et al. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. European Neurology 2006 56 : 1 5.
-
(2006)
European Neurology
, vol.56
, pp. 1-5
-
-
Trevisan, C.P.1
Pastorello, E.2
Armani, M.3
-
26
-
-
0019955804
-
Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome
-
Taylor DA, Carrol JE, Smith ME, Johnson MO, Johnson GP, Brooke MH. Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome. Annals of Neurology 1982 12 : 395 398.
-
(1982)
Annals of Neurology
, vol.12
, pp. 395-398
-
-
Taylor, D.A.1
Carrol, J.E.2
Smith, M.E.3
Johnson, M.O.4
Johnson, G.P.5
Brooke, M.H.6
-
27
-
-
0021322324
-
Facioscapulohumeral muscular dystrophy and accompanying hearing loss
-
Meyerson MD, Lewis E, Ill K. Facioscapulohumeral muscular dystrophy and accompanying hearing loss. Archives of Otolaryngology 1984 110 : 261 266.
-
(1984)
Archives of Otolaryngology
, vol.110
, pp. 261-266
-
-
Meyerson, M.D.1
Lewis, E.2
Ill, K.3
-
28
-
-
0021959058
-
Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels
-
Gieron MA, Korthals JK, Kousseff BG. Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels. Archives of Neurology 1985 2 : 143 144.
-
(1985)
Archives of Neurology
, vol.2
, pp. 143-144
-
-
Gieron, M.A.1
Korthals, J.K.2
Kousseff, B.G.3
-
29
-
-
0021885617
-
Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness
-
Korf BR, Bresnan MJ, Shapiro F, Sotrel A, Abroms IF. Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness. Annals of Neurology 1985 17 : 513 516.
-
(1985)
Annals of Neurology
, vol.17
, pp. 513-516
-
-
Korf, B.R.1
Bresnan, M.J.2
Shapiro, F.3
Sotrel, A.4
Abroms, I.F.5
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