-
1
-
-
58849087509
-
Ramblings in the history of spinal muscular atrophy
-
V. Dubowitz Ramblings in the history of spinal muscular atrophy Neuromuscul Disord 19 2009 69 73
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 69-73
-
-
Dubowitz, V.1
-
2
-
-
78650115906
-
Perspectives and diagnostic considerations in spinal muscular atrophy
-
T.W. Prior Perspectives and diagnostic considerations in spinal muscular atrophy Genet Med 12 2010 145 152
-
(2010)
Genet Med
, vol.12
, pp. 145-152
-
-
Prior, T.W.1
-
3
-
-
34250556693
-
Die frühinfantile progressive spinale Amyotrophie
-
G. Werdnig Die frühinfantile progressive spinale Amyotrophie Arch Psychiatr Nervenkr 26 1894 706 744
-
(1894)
Arch Psychiatr Nervenkr
, vol.26
, pp. 706-744
-
-
Werdnig, G.1
-
4
-
-
0000020061
-
Über chronische spinale Muskulatrophie in Kindesalter auf familiarer Basis
-
J. Hoffmann Über chronische spinale Muskulatrophie in Kindesalter auf familiarer Basis Dtsch Z Nervenheilkd 3 1892 427 470
-
(1892)
Dtsch Z Nervenheilkd
, vol.3
, pp. 427-470
-
-
Hoffmann, J.1
-
5
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
L.M. Brzustowicz, T. Lehner, and L.H. Castilla et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 Nature 344 1990 540 541
-
(1990)
Nature
, vol.344
, pp. 540-541
-
-
Brzustowicz, L.M.1
Lehner, T.2
Castilla, L.H.3
-
6
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
S. Lefebvre, L. Burglen, and S. Reboullet et al. Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 1995 155 165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
-
7
-
-
0027057672
-
International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)
-
T.L. Munsat, and K.E. Davies International SMA consortium meeting. (26-28 June 1992, Bonn, Germany) Neuromuscul Disord 2 1992 423 428
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
8
-
-
84555218229
-
Spinal muscular atrophy: A clinical and research update
-
J.A. Markowitz, P. Singh, and B.T. Darras Spinal muscular atrophy: a clinical and research update Pediatr Neurol 46 2012 1 12
-
(2012)
Pediatr Neurol
, vol.46
, pp. 1-12
-
-
Markowitz, J.A.1
Singh, P.2
Darras, B.T.3
-
9
-
-
84859816485
-
Childhood spinal muscular atrophy: Controversies and challenges
-
E. Mercuri, E. Bertini, and S.T. Iannaccone Childhood spinal muscular atrophy: controversies and challenges Lancet Neurol 11 2012 443 452
-
(2012)
Lancet Neurol
, vol.11
, pp. 443-452
-
-
Mercuri, E.1
Bertini, E.2
Iannaccone, S.T.3
-
10
-
-
36049049285
-
The changing natural history of spinal muscular atrophy type 1
-
M. Oskoui, G. Levy, and C.J. Garland et al. The changing natural history of spinal muscular atrophy type 1 Neurology 69 2007 1931 1936
-
(2007)
Neurology
, vol.69
, pp. 1931-1936
-
-
Oskoui, M.1
Levy, G.2
Garland, C.J.3
-
11
-
-
34548167361
-
Consensus statement for standard of care in spinal muscular atrophy
-
C.H. Wang, R.S. Finkel, and E.S. Bertini et al. Consensus statement for standard of care in spinal muscular atrophy J Child Neurol 22 2007 1027 1049
-
(2007)
J Child Neurol
, vol.22
, pp. 1027-1049
-
-
Wang, C.H.1
Finkel, R.S.2
Bertini, E.S.3
-
12
-
-
0033073557
-
The PedsQL™: Measurement model for the Pediatric Quality of Life Inventory
-
J.W. Varni, M. Seid, and C.A. Rode The PedsQL™: Measurement model for the Pediatric Quality of Life Inventory Med Care 37 1999 126 139
-
(1999)
Med Care
, vol.37
, pp. 126-139
-
-
Varni, J.W.1
Seid, M.2
Rode, C.A.3
-
13
-
-
70449525150
-
The PedsQL™ in pediatric patients with Spinal Muscular Atrophy: Feasibility, reliability, and validity of the Pediatric Quality of Life Inventory™ Generic Core Scales and Neuromuscular Module
-
S.T. Iannaccone, L.S. Hynan, and A. Morton et al. The PedsQL™ in pediatric patients with Spinal Muscular Atrophy: Feasibility, reliability, and validity of the Pediatric Quality of Life Inventory™ Generic Core Scales and Neuromuscular Module Neuromuscul Disord 19 2009 805 812
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 805-812
-
-
Iannaccone, S.T.1
Hynan, L.S.2
Morton, A.3
-
14
-
-
0028120266
-
The MOS 36-item short-form health survey (SF-36): III. Tests of data quality, scaling assumptions, and reliability across diverse patient groups
-
C.A. McHorney, J.E. Ware, J.F. Lu, and C.D. Sherbourne The MOS 36-item short-form health survey (SF-36): III. Tests of data quality, scaling assumptions, and reliability across diverse patient groups Med Care 32 1994 40 66
-
(1994)
Med Care
, vol.32
, pp. 40-66
-
-
McHorney, C.A.1
Ware, J.E.2
Lu, J.F.3
Sherbourne, C.D.4
-
15
-
-
33845945922
-
Coefficient alpha and the internal structure of tests
-
L.J. Cronbach Coefficient alpha and the internal structure of tests Psychometrika 16 1951 297 334
-
(1951)
Psychometrika
, vol.16
, pp. 297-334
-
-
Cronbach, L.J.1
-
17
-
-
0002322469
-
On a test of whether one of two random variables is stochastically larger than the other
-
H.B. Mann, and D.R. Whitney On a test of whether one of two random variables is stochastically larger than the other Ann Math Statist 18 1947 50 60
-
(1947)
Ann Math Statist
, vol.18
, pp. 50-60
-
-
Mann, H.B.1
Whitney, D.R.2
-
18
-
-
77952846858
-
-
SPSS SPSS Institute, Inc. Chicago, IL
-
SPSS SPSS 16.0.1 for Windows 2007 SPSS Institute, Inc. Chicago, IL
-
(2007)
SPSS 16.0.1 for Windows
-
-
-
19
-
-
84863777515
-
-
Prevalence of rare diseases: Bibliographic data - June 2013 - Number 1. Accessed September 1
-
Orphanet Report Series. Prevalence of rare diseases: Bibliographic data - June 2013 - Number 1. Available at: http://www.orpha.net/orphacom/cahiers/docs/ GB/Prevalence-of-rare-diseases-by-alphabetical-list.pdf. Accessed September 1, 2013.
-
(2013)
Orphanet Report Series
-
-
|