-
1
-
-
0026702158
-
Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium
-
Sarfarazi M., Wijmenga C., Upadhyaya M., et al. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet 51 (1992) 396-403
-
(1992)
Am J Hum Genet
, vol.51
, pp. 396-403
-
-
Sarfarazi, M.1
Wijmenga, C.2
Upadhyaya, M.3
-
2
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C., Hewitt J.E., Sandkuijl L.A., et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2 (1992) 26-30
-
(1992)
Nat Genet
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
-
3
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
Van Deutekom J.C., Wijmenga C., van Tienhoven E.A., et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 2 (1993) 2037-2042
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2037-2042
-
-
Van Deutekom, J.C.1
Wijmenga, C.2
van Tienhoven, E.A.3
-
4
-
-
0028040601
-
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy
-
Hewitt J.E., Lyle R., Clark L.N., et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 3 (1994) 1287-1295
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1287-1295
-
-
Hewitt, J.E.1
Lyle, R.2
Clark, L.N.3
-
5
-
-
33745715007
-
Facioscapulohumeral muscular dystrophy
-
Tawil R., and Van Der Maarel S.M. Facioscapulohumeral muscular dystrophy. Muscle Nerve 34 (2006) 1-15
-
(2006)
Muscle Nerve
, vol.34
, pp. 1-15
-
-
Tawil, R.1
Van Der Maarel, S.M.2
-
6
-
-
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 P.W., Jardine P.E., Koch M.C., 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 Mol Genet 4 (1995) 951-958
-
(1995)
Hum Mol Genet
, vol.4
, pp. 951-958
-
-
Lunt, P.W.1
Jardine, P.E.2
Koch, M.C.3
-
7
-
-
0029984970
-
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group
-
Tawil R., Forrester J., Griggs R.C., et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol 39 (1996) 744-748
-
(1996)
Ann Neurol
, vol.39
, pp. 744-748
-
-
Tawil, R.1
Forrester, J.2
Griggs, R.C.3
-
8
-
-
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 45 (1999) 751-757
-
(1999)
Ann Neurol
, vol.45
, pp. 751-757
-
-
Ricci, E.1
Galluzzi, G.2
Deidda, G.3
-
9
-
-
35648970126
-
-
Padberg, G.W. Facioscapulohumeral disease. Thesis. Leiden University, Leiden, The Netherlands, 1982.
-
-
-
-
10
-
-
0028930856
-
On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy
-
Padberg G.W., Brouwer O.F., de Keizer R.J.W., et al. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 2 Suppl 2 (1995) S73-S80
-
(1995)
Muscle Nerve
, vol.2
, Issue.SUPPL. 2
-
-
Padberg, G.W.1
Brouwer, O.F.2
de Keizer, R.J.W.3
-
11
-
-
3242666915
-
Ventilatory support in facioscapulohumeral muscular dystrophy
-
Wohlgemuth M., van der Kooi E.L., van Kesteren R.G., et al. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology 63 (2004) 176-178
-
(2004)
Neurology
, vol.63
, pp. 176-178
-
-
Wohlgemuth, M.1
van der Kooi, E.L.2
van Kesteren, R.G.3
-
12
-
-
0032891395
-
Daytime somnolence in myotonic dystrophy
-
Phillips M.F., Steer H.M., Soldan J.R., et al. Daytime somnolence in myotonic dystrophy. J Neurol 246 (1999) 275-282
-
(1999)
J Neurol
, vol.246
, pp. 275-282
-
-
Phillips, M.F.1
Steer, H.M.2
Soldan, J.R.3
-
14
-
-
0037168764
-
Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy
-
MacDonald J.R., Hill J.D., and Tarnopolsky M.A. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology 59 (2002) 1876-1880
-
(2002)
Neurology
, vol.59
, pp. 1876-1880
-
-
MacDonald, J.R.1
Hill, J.D.2
Tarnopolsky, M.A.3
-
15
-
-
0028050111
-
Sleep-related respiratory disturbances in patients with Duchenne muscular dystrophy
-
Barbe F., Quera-Salva M.A., McCann C., et al. Sleep-related respiratory disturbances in patients with Duchenne muscular dystrophy. Eur Respir J 7 (1994) 1403-1408
-
(1994)
Eur Respir J
, vol.7
, pp. 1403-1408
-
-
Barbe, F.1
Quera-Salva, M.A.2
McCann, C.3
-
17
-
-
1042276561
-
Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I
-
Dohna-Schwake C., Ragette R., Mellies U., et al. Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I. Neurology 62 (2004) 513-514
-
(2004)
Neurology
, vol.62
, pp. 513-514
-
-
Dohna-Schwake, C.1
Ragette, R.2
Mellies, U.3
-
19
-
-
33644816152
-
Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population
-
Suresh S., Wales P., Dakin C., et al. Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population. J Paediatr Child Health 41 (2005) 500-503
-
(2005)
J Paediatr Child Health
, vol.41
, pp. 500-503
-
-
Suresh, S.1
Wales, P.2
Dakin, C.3
-
20
-
-
0032477313
-
Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports
-
Bushby K.M., Pollitt C., Johnson M.A., et al. Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports. Neuromuscul Disord 8 (1998) 574-579
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 574-579
-
-
Bushby, K.M.1
Pollitt, C.2
Johnson, M.A.3
-
21
-
-
0026335673
-
Diagnostic criteria for facioscapulohumeral muscular dystrophy
-
Padberg G.W., Lunt P.W., Koch M., and Fardeau M. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord 14 (1991) 231-234
-
(1991)
Neuromuscul Disord
, vol.14
, pp. 231-234
-
-
Padberg, G.W.1
Lunt, P.W.2
Koch, M.3
Fardeau, M.4
-
22
-
-
0029913030
-
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
-
Deidda G., Cacurri S., Piazzo N., and Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 33 (1996) 361-365
-
(1996)
J Med Genet
, vol.33
, pp. 361-365
-
-
Deidda, G.1
Cacurri, S.2
Piazzo, N.3
Felicetti, L.4
-
23
-
-
0032231371
-
Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy
-
Cacurri S., Piazzo N., Deidda G., et al. Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy. Am J Hum Genet 63 (1998) 181-190
-
(1998)
Am J Hum Genet
, vol.63
, pp. 181-190
-
-
Cacurri, S.1
Piazzo, N.2
Deidda, G.3
-
24
-
-
0024389366
-
The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research
-
Buysse D.J., Reynolds C.F., Monk T.H., et al. The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res 28 (1989) 193-213
-
(1989)
Psychiatry Res
, vol.28
, pp. 193-213
-
-
Buysse, D.J.1
Reynolds, C.F.2
Monk, T.H.3
-
25
-
-
8544227656
-
The relationship between alexithymia, depression, and sleep complaints
-
De Gennaro L., Martina M., Curcio G., and Ferrara M. The relationship between alexithymia, depression, and sleep complaints. Psychiatry Res 128 (2004) 253-258
-
(2004)
Psychiatry Res
, vol.128
, pp. 253-258
-
-
De Gennaro, L.1
Martina, M.2
Curcio, G.3
Ferrara, M.4
-
26
-
-
0037295738
-
GINSEN (Gruppo Italiano Narcolessia Studio Epidemiologico Nazionale). Italian version of the Epworth Sleepiness Scale: external validity
-
Vignatelli L., Plazzi G., Barbato A., et al. GINSEN (Gruppo Italiano Narcolessia Studio Epidemiologico Nazionale). Italian version of the Epworth Sleepiness Scale: external validity. Neurol Sci 23 (2003) 295-300
-
(2003)
Neurol Sci
, vol.23
, pp. 295-300
-
-
Vignatelli, L.1
Plazzi, G.2
Barbato, A.3
-
27
-
-
0036208329
-
Sleep apnoea in infancy and childhood. Considering two possible causes: obstruction and neuromuscular disorders
-
Gordon N. Sleep apnoea in infancy and childhood. Considering two possible causes: obstruction and neuromuscular disorders. Brain Dev 24 (2002) 145-149
-
(2002)
Brain Dev
, vol.24
, pp. 145-149
-
-
Gordon, N.1
-
28
-
-
0033958259
-
Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy
-
Gozal D. Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy. Pediatr Pulmonol 29 (2000) 141-150
-
(2000)
Pediatr Pulmonol
, vol.29
, pp. 141-150
-
-
Gozal, D.1
-
30
-
-
10744234006
-
Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy
-
Di Lazzaro V., Oliviero A., Tonali P.A., et al. Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 14 (2004) 39-45
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 39-45
-
-
Di Lazzaro, V.1
Oliviero, A.2
Tonali, P.A.3
|