-
1
-
-
0033005549
-
Spinal muscular atrophy
-
Talbot K. Spinal muscular atrophy. J Inherited Metab Dis 1999;22: 545-54.
-
(1999)
J Inherited Metab Dis
, vol.22
, pp. 545-554
-
-
Talbot, K.1
-
2
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.
-
(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
-
3
-
-
0028905919
-
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
-
Rodriques NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995;4:631-4.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 631-634
-
-
Rodriques, N.R.1
Owen, N.2
Talbot, K.3
Ignatius, J.4
Dubowitz, V.5
Davies, K.E.6
-
4
-
-
0028863567
-
Molecular basis of spinal muscular atrophy in Chinese
-
Chang JG, Jong YJ, Huang JM, Wang WS, Yang TY, Chang CP, et al. Molecular basis of spinal muscular atrophy in Chinese. Am J Hum Genet 1995;57:1503-5.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1503-1505
-
-
Chang, J.G.1
Jong, Y.J.2
Huang, J.M.3
Wang, W.S.4
Yang, T.Y.5
Chang, C.P.6
-
5
-
-
0032471510
-
Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number
-
Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet 1998;63:1712-23.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1712-1723
-
-
Parsons, D.W.1
McAndrew, P.E.2
Iannaccone, S.T.3
Mendell, J.R.4
Burghes, A.H.5
Prior, T.W.6
-
6
-
-
0029954338
-
A novel nuclear structure containing the survival of motor neurons protein
-
Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996;15:3555-65.
-
(1996)
EMBO J
, vol.15
, pp. 3555-3565
-
-
Liu, Q.1
Dreyfuss, G.2
-
7
-
-
0030928716
-
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
-
Fischer U, Liu Q, Dreyfuss G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 1997;90: 1023-9.
-
(1997)
Cell
, vol.90
, pp. 1023-1029
-
-
Fischer, U.1
Liu, Q.2
Dreyfuss, G.3
-
8
-
-
0032567036
-
A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
-
Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell 1998;95:615-24.
-
(1998)
Cell
, vol.95
, pp. 615-624
-
-
Pellizzoni, L.1
Kataoka, N.2
Charroux, B.3
Dreyfuss, G.4
-
9
-
-
0028922174
-
PCR based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
-
van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, et al. PCR based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-6.
-
(1995)
Lancet
, vol.345
, pp. 985-986
-
-
Van Der Steege, G.1
Grootscholten, P.M.2
Van Der Vlies, P.3
Draaijers, T.G.4
Osinga, J.5
Cobben, J.M.6
-
10
-
-
0031419876
-
Molecular analysis of survival motor neuron (SMN) and neuronal apotosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents
-
Chang JG, Jong YJ, Lin SP, Soong BW, Tsai CH, Yang TY, et al. Molecular analysis of survival motor neuron (SMN) and neuronal apotosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents. Hum Genet 1997;100:577-81.
-
(1997)
Hum Genet
, vol.100
, pp. 577-581
-
-
Chang, J.G.1
Jong, Y.J.2
Lin, S.P.3
Soong, B.W.4
Tsai, C.H.5
Yang, T.Y.6
-
11
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999;8:1177-83.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
Prior, T.W.4
Androphy, E.J.5
Burghes, A.H.6
-
12
-
-
0028896092
-
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
-
Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167-78.
-
(1995)
Cell
, vol.80
, pp. 167-178
-
-
Roy, N.1
Mahadevan, M.S.2
McLean, M.3
Shutler, G.4
Yaraghi, Z.5
Farahani, R.6
-
13
-
-
0028180697
-
P44 and P34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL I, a yeast protein involved in DNA repair
-
Humbert S, van Vuuren H, Lutz Y, Hoeijmakers JHJ, Egly JM, Monocollin V. P44 and P34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL I, a yeast protein involved in DNA repair. EMBO J 1994;13:2393-8.
-
(1994)
EMBO J
, vol.13
, pp. 2393-2398
-
-
Humbert, S.1
Van Vuuren, H.2
Lutz, Y.3
Hoeijmakers, J.H.J.4
Egly, J.M.5
Monocollin, V.6
-
14
-
-
0031026977
-
The gene encoding P44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffman disease
-
Burglen L, Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, et al. The gene encoding P44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffman disease. Am J Hum Genet 1997;60:72-9.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 72-79
-
-
Burglen, L.1
Seroz, T.2
Miniou, P.3
Lefebvre, S.4
Burlet, P.5
Munnich, A.6
-
15
-
-
8044226616
-
A multicopy transcription-repair gene, BTF2 P44, maps to the SMA region and demonstrates SMA associated deletions
-
Carter TA, Bonnemann CG, Wang CH, Obici S, Parano E, De Fatima Bonaldo M, et al. A multicopy transcription-repair gene, BTF2 P44, maps to the SMA region and demonstrates SMA associated deletions. Hum Mol Genet 1997;6:229-36.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 229-236
-
-
Carter, T.A.1
Bonnemann, C.G.2
Wang, C.H.3
Obici, S.4
Parano, E.5
De Fatima Bonaldo, M.6
-
16
-
-
0027057672
-
Meeting report: International SMA Consortium Meeting
-
Munsat TL, Davies KE. Meeting report: International SMA Consortium Meeting. Neuromuscular Disord 1992;2:423-8.
-
(1992)
Neuromuscular Disord
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
17
-
-
0031720911
-
Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease
-
Jong YJ, Chang JG, Wu JR. Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease. Neurology 1998;51:878-9.
-
(1998)
Neurology
, vol.51
, pp. 878-879
-
-
Jong, Y.J.1
Chang, J.G.2
Wu, J.R.3
-
18
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000;15:228-37.
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
19
-
-
0030818315
-
Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
-
Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997;61:40-50.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 40-50
-
-
Campbell, L.1
Potter, A.2
Ignatius, J.3
Dubowitz, V.4
Davies, K.5
-
20
-
-
0030931720
-
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
-
Schrank B, Gotz R, Gunnersen JM, Ure JM, Toyka KV, Smith AG, et al. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A 1997;94:9920-5.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 9920-9925
-
-
Schrank, B.1
Gotz, R.2
Gunnersen, J.M.3
Ure, J.M.4
Toyka, K.V.5
Smith, A.G.6
-
21
-
-
0033987669
-
A mouse model for spinal muscular atrophy
-
Hsieh-Li HM, Chang JG, Jong YJ, Wu MH, Wang NM, Tsai CH, et al. A mouse model for spinal muscular atrophy. Nat Genet 2000; 24:66-70.
-
(2000)
Nat Genet
, vol.24
, pp. 66-70
-
-
Hsieh-Li, H.M.1
Chang, J.G.2
Jong, Y.J.3
Wu, M.H.4
Wang, N.M.5
Tsai, C.H.6
-
22
-
-
0031800695
-
SMN oligomerization defect correlates with spinal muscular atrophy severity
-
Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, et al. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 1998;19:63-6.
-
(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
-
23
-
-
0034651615
-
Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients
-
Jong YJ, Chang JG, Lin SP, Yang TY, Wang JC, Chang CP, et al. Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients. J Neurol Sci 2000;173:147-53.
-
(2000)
J Neurol Sci
, vol.173
, pp. 147-153
-
-
Jong, Y.J.1
Chang, J.G.2
Lin, S.P.3
Yang, T.Y.4
Wang, J.C.5
Chang, C.P.6
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