-
1
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases: a world survey
-
Emery A.E.H. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1 (1991) 19-29
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 19-29
-
-
Emery, A.E.H.1
-
2
-
-
0026490348
-
Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy
-
Merlini L., Stagni S.B., Marri E., and Granata C. Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy. Neuromuscul Disord 2 (1992) 197-200
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 197-200
-
-
Merlini, L.1
Stagni, S.B.2
Marri, E.3
Granata, C.4
-
3
-
-
74149088748
-
A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy
-
Arkblad E., Tulinius M., Kroksmark A.K., Henricsson M., and Darin N. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr 1 (2009) 1-5
-
(2009)
Acta Paediatr
, vol.1
, pp. 1-5
-
-
Arkblad, E.1
Tulinius, M.2
Kroksmark, A.K.3
Henricsson, M.4
Darin, N.5
-
4
-
-
0027057672
-
International SMA Consortium meeting report
-
Munsat T.L., and Davies K.E. International SMA Consortium meeting report. Neuromuscul Disord 2 (1992) 423-428
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
5
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
Feldkötter M., Schwarzer V., Wirth R., et al. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70 (2002) 358-362
-
(2002)
Am J Hum Genet
, vol.70
, pp. 358-362
-
-
Feldkötter, M.1
Schwarzer, V.2
Wirth, R.3
-
6
-
-
33645743043
-
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
-
Wirth B., Brichta L., Schrank B., et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 119 (2006) 422-428
-
(2006)
Hum Genet
, vol.119
, pp. 422-428
-
-
Wirth, B.1
Brichta, L.2
Schrank, B.3
-
7
-
-
0028813584
-
Chaos in the classification of SMA: a possible resolution
-
Dubowitz V. Chaos in the classification of SMA: a possible resolution. Neuromuscul Disord 5 (1995) 3-5
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 3-5
-
-
Dubowitz, V.1
-
8
-
-
0017226009
-
The orthopaedic aspects of spinal muscular atrophy
-
Schwentker E.P., and Gibson D.A. The orthopaedic aspects of spinal muscular atrophy. J Bone Joint Surg Am 58 (1976) 32-38
-
(1976)
J Bone Joint Surg Am
, vol.58
, pp. 32-38
-
-
Schwentker, E.P.1
Gibson, D.A.2
-
9
-
-
0028820179
-
Profiles of neuromuscular diseases: spinal muscular atrophy
-
Carter G.T., Abresch R.T., Fowler W.M., et al. Profiles of neuromuscular diseases: spinal muscular atrophy. Am J Phys Med Rehabil 74 (1995) 150-159
-
(1995)
Am J Phys Med Rehabil
, vol.74
, pp. 150-159
-
-
Carter, G.T.1
Abresch, R.T.2
Fowler, W.M.3
-
10
-
-
0019468583
-
Functional classification and orthopaedic management of spinal muscular atrophy
-
Evans G.A., Drennan J.C., and Russman B.S. Functional classification and orthopaedic management of spinal muscular atrophy. J Bone Joint Surg Br 63 (1981) 516-522
-
(1981)
J Bone Joint Surg Br
, vol.63
, pp. 516-522
-
-
Evans, G.A.1
Drennan, J.C.2
Russman, B.S.3
-
11
-
-
0028825429
-
Scoliosis and lung function in spinal muscular atrophy
-
Robinson D., Galasko C.S.B., Delaney C., Williamson J.B., and Barrie J.L. Scoliosis and lung function in spinal muscular atrophy. Eur Spine J 4 (1995) 268-273
-
(1995)
Eur Spine J
, vol.4
, pp. 268-273
-
-
Robinson, D.1
Galasko, C.S.B.2
Delaney, C.3
Williamson, J.B.4
Barrie, J.L.5
-
12
-
-
0019459890
-
Preservation of the phrenic motoneurons in Werdnig-Hoffmann Disease
-
Kuzuhara S., and Chou S.M. Preservation of the phrenic motoneurons in Werdnig-Hoffmann Disease. Ann Neurol 9 (1981) 506-510
-
(1981)
Ann Neurol
, vol.9
, pp. 506-510
-
-
Kuzuhara, S.1
Chou, S.M.2
-
13
-
-
0024584070
-
Amyotrophie spinale infantile
-
Barois A., Estournet B., Duval-Beaupere G., Bataille J., and Leclair-Richard D. Amyotrophie spinale infantile. Rev Neurol 145 (1989) 299-304
-
(1989)
Rev Neurol
, vol.145
, pp. 299-304
-
-
Barois, A.1
Estournet, B.2
Duval-Beaupere, G.3
Bataille, J.4
Leclair-Richard, D.5
-
15
-
-
0030454951
-
Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy
-
Souchon F., Simard L.R., Lebrun S., et al. Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy. Neuromuscul Disord 6 (1996) 419-424
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 419-424
-
-
Souchon, F.1
Simard, L.R.2
Lebrun, S.3
-
16
-
-
0029162659
-
Indicators of need for mechanical ventilation in Duchenne muscular dystrophy and spinal muscular atrophy
-
Lyager S., Steffensen B., and Juhl B. Indicators of need for mechanical ventilation in Duchenne muscular dystrophy and spinal muscular atrophy. Chest 108 (1995) 779-785
-
(1995)
Chest
, vol.108
, pp. 779-785
-
-
Lyager, S.1
Steffensen, B.2
Juhl, B.3
-
17
-
-
0026555354
-
Upper extremity strength and function in children with SMA II
-
Koch B.M., and Simenson R.L. Upper extremity strength and function in children with SMA II. Arch Phys Med Rehabil 73 (1992) 241-245
-
(1992)
Arch Phys Med Rehabil
, vol.73
, pp. 241-245
-
-
Koch, B.M.1
Simenson, R.L.2
-
18
-
-
0018074029
-
Spinal muscular atrophy in childhood: review of 50 cases
-
Benady S.G. Spinal muscular atrophy in childhood: review of 50 cases. Dev Med Child Neurol 20 (1978) 746-757
-
(1978)
Dev Med Child Neurol
, vol.20
, pp. 746-757
-
-
Benady, S.G.1
-
19
-
-
0028144083
-
Swallowing problems in Neuromuscular Disorders
-
Willig T.N., Paulus J., Lacau Saint Guily J., Béon C., and Navarro J. Swallowing problems in Neuromuscular Disorders. Arch Phys Med Rehabil 75 (1994) 1175-1181
-
(1994)
Arch Phys Med Rehabil
, vol.75
, pp. 1175-1181
-
-
Willig, T.N.1
Paulus, J.2
Lacau Saint Guily, J.3
Béon, C.4
Navarro, J.5
-
21
-
-
43449122152
-
Feeding difficulties and malnutrition in spinal muscular atrophy type II
-
Messina S., Pane M., De Rose P., et al. Feeding difficulties and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord 18 5 (2008) 389-393
-
(2008)
Neuromuscul Disord
, vol.18
, Issue.5
, pp. 389-393
-
-
Messina, S.1
Pane, M.2
De Rose, P.3
-
22
-
-
0034090948
-
Prospective analysis of strength in spinal muscular atrophy
-
Innaccone S.T., Russmann B.S., Browne R.H., Buncher R., White M., and Samaha F. Prospective analysis of strength in spinal muscular atrophy. J Child Neurol 15 (2000) 97-101
-
(2000)
J Child Neurol
, vol.15
, pp. 97-101
-
-
Innaccone, S.T.1
Russmann, B.S.2
Browne, R.H.3
Buncher, R.4
White, M.5
Samaha, F.6
-
23
-
-
0028904953
-
Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestion for a modification of existing classifications
-
Zerres K., and Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestion for a modification of existing classifications. Arch Neurol 52 (1995) 518-523
-
(1995)
Arch Neurol
, vol.52
, pp. 518-523
-
-
Zerres, K.1
Rudnik-Schöneborn, S.2
-
24
-
-
0036726945
-
Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study
-
Steffensen B.F., Lyager S., Werge B., Rahbek J., and Mattsson E. Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study. Dev Med Child Neurol 44 9 (2002) 623
-
(2002)
Dev Med Child Neurol
, vol.44
, Issue.9
, pp. 623
-
-
Steffensen, B.F.1
Lyager, S.2
Werge, B.3
Rahbek, J.4
Mattsson, E.5
-
26
-
-
0036717349
-
Outcome measures for pediatric spinal muscular atrophy
-
AmSMART Group
-
Iannaccone S.T., and AmSMART Group. Outcome measures for pediatric spinal muscular atrophy. Arch Neurol 59 (2002) 1445-1450
-
(2002)
Arch Neurol
, vol.59
, pp. 1445-1450
-
-
Iannaccone, S.T.1
-
27
-
-
53249098299
-
Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops
-
Mercuri E., Mayhew A., Muntoni F., et al. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops. Neuromuscul Disord 18 (2008) 894-903
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 894-903
-
-
Mercuri, E.1
Mayhew, A.2
Muntoni, F.3
-
28
-
-
0034213090
-
A randomized comparative study of two methods for controlling tendo Achilles contracture in Duchenne muscular dystrophy
-
Hyde S.A., Fløytrup I., Glent S., et al. A randomized comparative study of two methods for controlling tendo Achilles contracture in Duchenne muscular dystrophy. Neuromuscul Disord 10 (2000) 257-263
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 257-263
-
-
Hyde, S.A.1
Fløytrup, I.2
Glent, S.3
-
29
-
-
0036203595
-
Reliability of the EK scale, a functional test for non-ambulatory persons with Duchenne muscular dystrophy
-
Steffensen B.F., Hyde S., Attermann J., and Mattsson E. Reliability of the EK scale, a functional test for non-ambulatory persons with Duchenne muscular dystrophy. Adv Physiother 4 (2002) 37-47
-
(2002)
Adv Physiother
, vol.4
, pp. 37-47
-
-
Steffensen, B.F.1
Hyde, S.2
Attermann, J.3
Mattsson, E.4
-
30
-
-
0019522162
-
Clinical trial in Duchenne muscular dystrophy: I. The design of the protocol
-
Brooke M.H., Griggs R.C., Mendell J.R., et al. Clinical trial in Duchenne muscular dystrophy: I. The design of the protocol. Muscle Nerve 4 (1981) 186-187
-
(1981)
Muscle Nerve
, vol.4
, pp. 186-187
-
-
Brooke, M.H.1
Griggs, R.C.2
Mendell, J.R.3
-
31
-
-
0043092414
-
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation
-
Main M., Kairon H., Mercuri E., and Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol 7 (2003) 155-159
-
(2003)
Eur J Paediatr Neurol
, vol.7
, pp. 155-159
-
-
Main, M.1
Kairon, H.2
Mercuri, E.3
Muntoni, F.4
-
32
-
-
0041841956
-
Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy
-
Steffensen B.F., Hyde S.A., Lyager S., and Mattsson E. Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy. Physiother Res Int 6 (2001) 119-134
-
(2001)
Physiother Res Int
, vol.6
, pp. 119-134
-
-
Steffensen, B.F.1
Hyde, S.A.2
Lyager, S.3
Mattsson, E.4
-
34
-
-
0026547383
-
Intrarater reliability of manual muscle test (Medical Research Council scale) grades in Duchenne's muscular dystrophy
-
Florence J.M., Pandya S., King W., et al. Intrarater reliability of manual muscle test (Medical Research Council scale) grades in Duchenne's muscular dystrophy. Phys Ther 72 (1992) 115-122
-
(1992)
Phys Ther
, vol.72
, pp. 115-122
-
-
Florence, J.M.1
Pandya, S.2
King, W.3
-
35
-
-
0019948028
-
Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy
-
Scott O.M., Hyde S.A., Goddard C., and Dubowitz V. Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy. Muscle Nerve 5 (1982) 291-301
-
(1982)
Muscle Nerve
, vol.5
, pp. 291-301
-
-
Scott, O.M.1
Hyde, S.A.2
Goddard, C.3
Dubowitz, V.4
-
36
-
-
0003662642
-
-
American Academy of orthopedic surgeons, Edinburgh and London: E&S Livingstone;
-
American Academy of orthopedic surgeons. Joint motion: method of measuring and recording. Edinburgh and London: E&S Livingstone; 1965.
-
(1965)
Joint motion: Method of measuring and recording
-
-
-
37
-
-
0642367533
-
An Index for the measurement of normal maximum mouth opening
-
Zawawi K.H., Al-Badawi E.A., Lobo Lobo S., Melis M., and Mehta N.R. An Index for the measurement of normal maximum mouth opening. J Can Dent Assoc 69 (2003) 737-741
-
(2003)
J Can Dent Assoc
, vol.69
, pp. 737-741
-
-
Zawawi, K.H.1
Al-Badawi, E.A.2
Lobo Lobo, S.3
Melis, M.4
Mehta, N.R.5
-
38
-
-
0028206815
-
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications
-
Rudnik-Schöneborn S., Röhrig D., Morgan G., Wirth B., and Zerres K. Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. Am J Med Genet 51 (1994) 70-76
-
(1994)
Am J Med Genet
, vol.51
, pp. 70-76
-
-
Rudnik-Schöneborn, S.1
Röhrig, D.2
Morgan, G.3
Wirth, B.4
Zerres, K.5
-
39
-
-
34247566138
-
The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study
-
Tiziano F.D., Bertini E., Messina S., et al. The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study. Neuromuscul Disord 17 (2007) 400-403
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 400-403
-
-
Tiziano, F.D.1
Bertini, E.2
Messina, S.3
-
40
-
-
0035012607
-
Clinical evaluator reliability for quantitative and manual muscle testing measures of strength in children
-
Escolar D.M., Henricson E.K., Mayhew J., et al. Clinical evaluator reliability for quantitative and manual muscle testing measures of strength in children. Muscle Nerve 24 (2001) 787-793
-
(2001)
Muscle Nerve
, vol.24
, pp. 787-793
-
-
Escolar, D.M.1
Henricson, E.K.2
Mayhew, J.3
-
41
-
-
0036307964
-
Reliability of hand-held dynamometry in spinal muscular atrophy
-
Merlini L., Mazzone E.S., Solari A., and Morandi L. Reliability of hand-held dynamometry in spinal muscular atrophy. Muscle Nerve 26 (2002) 64-70
-
(2002)
Muscle Nerve
, vol.26
, pp. 64-70
-
-
Merlini, L.1
Mazzone, E.S.2
Solari, A.3
Morandi, L.4
-
42
-
-
0035886619
-
A placebo-controlled trial of gabapentin in spinal muscular atrophy
-
SMA Study Group
-
Miller R.G., Moore D.H., Dronsky V., et al., SMA Study Group. A placebo-controlled trial of gabapentin in spinal muscular atrophy. J Neurol Sci 191 (2001) 127-131
-
(2001)
J Neurol Sci
, vol.191
, pp. 127-131
-
-
Miller, R.G.1
Moore, D.H.2
Dronsky, V.3
-
43
-
-
0042524580
-
Reliability of 4 outcome measures in paediatric spinal muscular atrophy
-
AmSMART group
-
Iannaccone S.T., Hynan L.S., and AmSMART group. Reliability of 4 outcome measures in paediatric spinal muscular atrophy. Arch Neurol 60 (2003) 1130-1136
-
(2003)
Arch Neurol
, vol.60
, pp. 1130-1136
-
-
Iannaccone, S.T.1
Hynan, L.S.2
-
44
-
-
4444291534
-
Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III
-
Chng S.Y., Wong Y.Q., Hui J.H., et al. Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. J Paediatr Child Health 39 (2003 Dec) 673-676
-
(2003)
J Paediatr Child Health
, vol.39
, pp. 673-676
-
-
Chng, S.Y.1
Wong, Y.Q.2
Hui, J.H.3
|