-
1
-
-
0031915927
-
Facioscapulohumeral dystrophy: A distinct regional myopathy with a novel molecular pathogenesis
-
Tawil R, Figlewicz DA, Griggs RC, et al. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. Ann Neurol 1998;43:279-82.
-
(1998)
Ann Neurol
, vol.43
, pp. 279-282
-
-
Tawil, R.1
Figlewicz, D.A.2
Griggs, R.C.3
-
2
-
-
0003223434
-
Facioscapulohumeral muscular dystrophy
-
Emery AEH, ed. London: Royal Society of Medicine
-
Padberg GW, Lunt PW, Koch M, et al. Facioscapulohumeral muscular dystrophy. In: Emery AEH, ed. Diagnostic criteria for neuromuscular disorders. 2nd ed. London: Royal Society of Medicine, 1997:9-15.
-
(1997)
Diagnostic Criteria for Neuromuscular Disorders. 2nd Ed.
, pp. 9-15
-
-
Padberg, G.W.1
Lunt, P.W.2
Koch, M.3
-
3
-
-
0025160101
-
Localisation of facioscapulohumeral muscular dystrophy gene on chromosome 4
-
Wijmenga C, Frants RR, Brouwer OF, et al. Localisation of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990;336:651-3.
-
(1990)
Lancet
, vol.336
, pp. 651-653
-
-
Wijmenga, C.1
Frants, R.R.2
Brouwer, O.F.3
-
4
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992;2:26-30.
-
(1992)
Nat Genet
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
-
5
-
-
0030909143
-
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): Validation of the differential double digestion for FSHD
-
Upadhyaya M, Maynard J, Rogers MT, et al. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J Med Genet 1997;34:476-9.
-
(1997)
J Med Genet
, vol.34
, pp. 476-479
-
-
Upadhyaya, M.1
Maynard, J.2
Rogers, M.T.3
-
6
-
-
0032976224
-
Definitive molecular diagnosis of facioscapulohumeral dystrophy
-
Orrell RW, Tawil R, Forrester J, et al. Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 1999;52:1822-6.
-
(1999)
Neurology
, vol.52
, pp. 1822-1826
-
-
Orrell, R.W.1
Tawil, R.2
Forrester, J.3
-
7
-
-
7344231685
-
Inter- and intrachromosomal subtelomeric rearrangements on 4q35: Implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
-
Lemmerts RJ, Van der Maarel SM, Van Deutekom JC, et al. Inter- and intrachromosomal subtelomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Molec Genet 1998;7:1207-14.
-
(1998)
Hum Molec Genet
, vol.7
, pp. 1207-1214
-
-
Lemmerts, R.J.1
Van Der Maarel, S.M.2
Van Deutekom, J.C.3
-
8
-
-
0344388960
-
Discrimination of genetic entities in muscular dystrophy
-
Chung CS, Morton NE. Discrimination of genetic entities in muscular dystrophy. Am J Hum Genet 1959;11:339-59.
-
(1959)
Am J Hum Genet
, vol.11
, pp. 339-359
-
-
Chung, C.S.1
Morton, N.E.2
-
10
-
-
84965184259
-
Studies in disorders of muscle. II. Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family
-
Tyler FH, Stephens FE. Studies in disorders of muscle. II. Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family. Ann Intern Med 1999; 32:640-60.
-
(1999)
Ann Intern Med
, vol.32
, pp. 640-660
-
-
Tyler, F.H.1
Stephens, F.E.2
-
12
-
-
0000042975
-
On the classification, natural history and treatment of the myopathies
-
Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain 1954;77:169-231.
-
(1954)
Brain
, vol.77
, pp. 169-231
-
-
Walton, J.N.1
Nattrass, F.J.2
-
13
-
-
0029038951
-
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
-
Lunt PV, Jardine PE, Koch MC, et al. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Molecul Genet 1995;4:951-8.
-
(1995)
Hum Molecul Genet
, vol.4
, pp. 951-958
-
-
Lunt, P.V.1
Jardine, P.E.2
Koch, M.C.3
-
14
-
-
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. Ann Neurol 1999;45: 751-7.
-
(1999)
Ann Neurol
, vol.45
, pp. 751-757
-
-
Ricci, E.1
Galluzzi, G.2
Deidda, G.3
-
15
-
-
0029984970
-
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy
-
Tawil R, Forrester J, Griggs RC, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 1996;39:744-8.
-
(1996)
Ann Neurol
, vol.39
, pp. 744-748
-
-
Tawil, R.1
Forrester, J.2
Griggs, R.C.3
-
16
-
-
0028959638
-
Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy
-
Lunt PW, Jardine PE, Koch M, et al. Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;(suppl 2):S103-9.
-
(1995)
Muscle Nerve
, Issue.2 SUPPL.
-
-
Lunt, P.W.1
Jardine, P.E.2
Koch, M.3
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