-
1
-
-
0018906764
-
Classification of spinal muscular atrophies
-
(1980)
Lancet
, vol.1
, pp. 919-922
-
-
Pearn, J.1
-
2
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
-
5
-
-
0028842926
-
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
-
(1995)
Nat. Genet.
, vol.11
, pp. 335-337
-
-
Bussaglia, E.1
Clermont, O.2
Tizzano, E.3
Lefebvre, S.4
Burglen, L.5
Cruaud, C.6
Urtizberea, J.A.7
Colomer, J.8
Munnich, A.9
Baiget, M.10
-
6
-
-
0031059705
-
Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
-
(1997)
Ann. Neurol.
, vol.41
, pp. 230-237
-
-
DiDonato, C.J.1
Ingraham, S.E.2
Mendell, J.R.3
Prior, T.W.4
Lenard, S.5
Moxley III, R.T.6
Florence, J.7
Burghes, A.H.8
-
11
-
-
0029819241
-
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 834-838
-
-
Van der Steege, G.1
Grootscholten, P.M.2
Cobben, J.M.3
Zappata, S.4
Scheffer, H.5
Den Dunnen, J.T.6
Van Ommen, G.J.7
Brahe, C.8
Buys, C.H.9
-
13
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
(2000)
Hum. Mutat.
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
18
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1205-1214
-
-
Coovert, D.D.1
Le, T.T.2
McAndrew, P.E.3
Strasswimmer, J.4
Crawford, T.O.5
Mendell, J.R.6
Coulson, S.E.7
Androphy, E.J.8
Prior, T.W.9
Burghes, A.H.10
-
19
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
(1997)
Nat. Genet.
, vol.16
, pp. 265-269
-
-
Lefebvre, S.1
Burlet, P.2
Liu, Q.3
Bertrandy, S.4
Clermont, O.5
Munnich, A.6
Dreyfuss, G.7
Melki, J.8
-
20
-
-
0030985898
-
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1411-1422
-
-
McAndrew, P.E.1
Parsons, D.W.2
Simard, L.R.3
Rochette, C.4
Ray, P.N.5
Mendell, J.R.6
Prior, T.W.7
Burghes, A.H.8
-
21
-
-
0030896085
-
Cloning, characterization, and copy number of the murine survival motor neuron gene: Homolog of the spinal muscular atrophy-determining gene
-
(1997)
Genome Res.
, vol.7
, pp. 339-352
-
-
DiDonato, C.J.1
Chen, X.N.2
Noya, D.3
Korenberg, J.R.4
Nadeau, J.H.5
Simard, L.R.6
-
22
-
-
0031568882
-
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn)
-
(1997)
Genomics
, vol.40
, pp. 185-188
-
-
Viollet, L.1
Bertrandy, S.2
Bueno Brunialti, A.L.3
Lefebvre, S.4
Burlet, P.5
Clermont, O.6
Cruaud, C.7
Guenet, J.L.8
Munnich, A.9
Melki, J.10
-
23
-
-
0034701295
-
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 849-858
-
-
Frugier, T.1
Tiziano, F.D.2
Cifuentes-Diaz, C.3
Miniou, P.4
Roblot, N.5
Dierich, A.6
Le Meur, M.7
Melki, J.8
-
25
-
-
0034639645
-
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 333-339
-
-
Monani, U.R.1
Sendtner, M.2
Coovert, D.D.3
Parsons, D.W.4
Andreassi, C.5
Le, T.T.6
Jablonka, S.7
Schrank, B.8
Rossol, W.9
Prior, T.W.10
-
28
-
-
0027185151
-
A splicing enhancer complex controls alternative splicing of doublesex pre-mRNA
-
(1993)
Cell
, vol.74
, pp. 105-114
-
-
Tian, M.1
Maniatis, T.2
-
34
-
-
0034647916
-
Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 21041-21047
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
Romano, M.4
Zuccato, E.5
Niksic, M.6
Giglio, L.7
Faraguna, D.8
Baralle, F.E.9
-
37
-
-
7844249275
-
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1927-1933
-
-
Burlet, P.1
Huber, C.2
Bertrandy, S.3
Ludosky, M.A.4
Zwacnepoel, I.5
Clermont, O.6
Roume, J.7
Delezoide, A.L.8
Cartaud, J.9
Munnich, A.10
-
40
-
-
0017355820
-
In vitro culture and differentiation on normal mouse blastocysts
-
(1977)
Nature
, vol.265
, pp. 626-629
-
-
Hogan, B.1
Tilly, R.2
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