-
2
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
(1990)
Nature
, vol.344
, pp. 540-541
-
-
Brzustowicz, L.M.1
Lehner, T.2
Castilla, L.3
Penchaszadeh, G.4
Wilhelmsen, K.5
Daniels, R.6
Davies, K.7
Leppert, M.8
Ziter, F.9
Wood, D.10
-
5
-
-
0033552589
-
Gemin3, a novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems
-
(1999)
J. Cell Biol.
, vol.147
, pp. 1181-1194
-
-
Charroux, B.1
Pellizzoni, L.2
Perkinson, R.3
Shevchenko, A.4
Mann, M.5
Dreyfuss, G.6
-
6
-
-
0021689433
-
Monoclonal antibody characterization of the C proteins of heterogeneous nuclear ribonucleoprotein complexes in vertebrate cells
-
(1984)
J. Cell Biol.
, vol.99
, pp. 1997-2004
-
-
Choi, Y.D.1
Dreyfuss, G.2
-
7
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1205-1214
-
-
Coovert, 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.M.10
-
8
-
-
0024999077
-
An essential signaling role for the m3G cap in the transport of U1 snRNP to the nucleus
-
(1990)
Science
, vol.249
, pp. 786-790
-
-
Fischer, U.1
Luhrmann, R.2
-
13
-
-
0029147787
-
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.213
, pp. 342-348
-
-
Gennarelli, M.1
Lucarelli, M.2
Capon, F.3
Pizzuti, A.4
Merlini, L.5
Angelini, C.6
Novelli, G.7
Dallapiccola, B.8
-
15
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
(1995)
Cell
, vol.89
, 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
-
16
-
-
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
-
-
0030931727
-
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
-
(1997)
Cell
, vol.90
, pp. 1013-1021
-
-
Liu, Q.1
Fischer, U.2
Wang, F.3
Dreyfuss, G.4
-
21
-
-
0031800695
-
SMN oligomerization defect correlates with spinal muscular atrophy severity
-
(1998)
Nat. Genet.
, vol.19
, pp. 63-66
-
-
Lorson, C.L.1
Strasswimmer, J.2
Yao, J.M.3
Baleja, J.D.4
Hahnen, E.5
Wirth, B.6
Le, T.7
Burghes, A.H.M.8
Androphy, E.J.9
-
26
-
-
0023047717
-
Cap trimethylation of U snRNA is cytoplasmic and dependent on U snRNP protein binding
-
(1986)
Cell
, vol.46
, pp. 905-911
-
-
Mattaj, I.W.1
-
27
-
-
0002836962
-
UsnRNP assembly and transport
-
Structure and Function of Major and Minor Small Nuclear Ribonucleoprotein Particles., M. Birnstiel, editor. Springer-Verlag, Berlin
-
(1988)
, pp. 100-114
-
-
Mattaj, I.W.1
-
31
-
-
0025319713
-
Gene for chronic spinal muscular atrophies maps to chromosome 5q
-
(1990)
Nature
, vol.344
, pp. 767-768
-
-
Melki, J.1
Abdelhak, S.2
Sheth, P.3
Bachelor, M.4
Burlet, P.5
Maradet, A.6
Aicardi, J.7
Barois, A.8
Carriere, J.9
Fardeau, M.10
-
32
-
-
0028200804
-
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
-
(1994)
Science
, vol.264
, pp. 1474-1477
-
-
Melki, J.1
Lefebvre, S.2
Burglen, L.3
Burlet, P.4
Clermont, O.5
Millasseau, P.6
Reboullet, S.7
Benichou, B.8
Zeviani, M.9
Le Paslier, D.10
-
35
-
-
0018906764
-
Classification of spinal muscular atrophies
-
(1980)
Lancet
, vol.1
, pp. 919-922
-
-
Pearn, J.1
-
39
-
-
0025615327
-
Association between the nucleolus and the coiled body
-
(1990)
J. Struct. Biol.
, vol.10
, pp. 120-127
-
-
Raska, I.1
Ochs, R.L.2
Andrade, L.E.3
Chan, E.K.4
Burlingame, R.5
Peebles, C.6
Gruol, D.7
Tan, E.M.8
-
43
-
-
0033533730
-
Newly assembled snRNPs associate with coiled bodies before speckles, suggesting a nuclear snRNP maturation pathway
-
(1999)
Curr. Biol.
, vol.9
, pp. 1065-1074
-
-
Sleeman, J.E.1
Lamond, A.I.2
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