-
1
-
-
0027057672
-
International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)
-
Munsat, T.L. & Davies, K.E. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromusc. Disord. 2, 423-428 (1992).
-
(1992)
Neuromusc. Disord.
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
2
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
Brzustowicz, L.M. et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344, 540-541 (1990).
-
(1990)
Nature
, vol.344
, pp. 540-541
-
-
Brzustowicz, L.M.1
-
3
-
-
0025299356
-
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14
-
Melki, J. et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. Lancet 336, 271-273 (1990).
-
(1990)
Lancet
, vol.336
, pp. 271-273
-
-
Melki, J.1
-
4
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-165 (1995).
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
-
5
-
-
0028905919
-
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
-
Rodrigues, N.R. et al. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet. 4, 631-634 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 631-634
-
-
Rodrigues, N.R.1
-
6
-
-
0029858451
-
Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease
-
Hahnen, E., Schonling, J., Rudnik-Schoneborn, S., Zerres, K. & Wirth, B. Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am. J. Hum. Genet. 59, 1057-1065 (1996).
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 1057-1065
-
-
Hahnen, E.1
Schonling, J.2
Rudnik-Schoneborn, S.3
Zerres, K.4
Wirth, B.5
-
7
-
-
0029819241
-
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
-
van der Steege, G. et al. Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am. J. Hum. Genet. 59, 834-838 (1996).
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 834-838
-
-
Van Der Steege, G.1
-
8
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
Lefebvre, S. et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nature Genet. 16, 265-269 (1997).
-
(1997)
Nature Genet.
, vol.16
, pp. 265-269
-
-
Lefebvre, S.1
-
9
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
Coovert, D.D. et al. The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet. 6, 1205-1214 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1205-1214
-
-
Coovert, D.D.1
-
10
-
-
0031800695
-
SMN oligomerization defect correlates with spinal muscular atrophy severity
-
Lorson, C.L. et al. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nature Genet. 19, 63-66 (1998).
-
(1998)
Nature Genet.
, vol.19
, pp. 63-66
-
-
Lorson, C.L.1
-
11
-
-
0030589633
-
The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5
-
Scharf, J.M. et al. The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5. Genomics 38, 405-417 (1996).
-
(1996)
Genomics
, vol.38
, pp. 405-417
-
-
Scharf, J.M.1
-
13
-
-
0032478732
-
Matrin CYP, an SR-rich cyclophilin that associates with the nuclear matrix and splicing factors
-
Mortillaro, M.J. & Berezney, R. Matrin CYP, an SR-rich cyclophilin that associates with the nuclear matrix and splicing factors. J. Biol. Chem. 273, 8183-8192 (1998).
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 8183-8192
-
-
Mortillaro, M.J.1
Berezney, R.2
-
14
-
-
0030931727
-
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
-
Liu, Q., Fischer, U., Wang, F. & Dreyfuss, G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 90, 1013-1021 (1997).
-
(1997)
Cell
, vol.90
, pp. 1013-1021
-
-
Liu, Q.1
Fischer, U.2
Wang, F.3
Dreyfuss, G.4
-
15
-
-
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 90, 1023-1029 (1997).
-
(1997)
Cell
, vol.90
, pp. 1023-1029
-
-
Fischer, U.1
Liu, Q.2
Dreyfuss, G.3
-
16
-
-
0028171819
-
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy
-
DiDonato, C.J. et al. Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am. J. Hum. Genet. 55, 1218-1229 (1994).
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 1218-1229
-
-
DiDonato, C.J.1
-
17
-
-
0029117950
-
Allelic association and deletions in autosomal recessive spinal muscular atrophy: Association of marker genotype with disease severity and candidate cDNAs
-
Wirth, B. et al. Allelic association and deletions in autosomal recessive spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum. Mol. Genet. 4, 1273-1284 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1273-1284
-
-
Wirth, B.1
-
18
-
-
0029880997
-
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
-
Burlet, P. et al. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J. Med. Genet. 33, 281-283 (1996).
-
(1996)
J. Med. Genet.
, vol.33
, pp. 281-283
-
-
Burlet, P.1
-
19
-
-
0030047445
-
Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of (C)BCD541 and SMA phenotype
-
Velasco, E., Valero, C., Valero, A., Moreno, F. & Hernandez-Chico, C. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of (C)BCD541 and SMA phenotype. Hum. Mol. Genet. 5, 257-263 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 257-263
-
-
Velasco, E.1
Valero, C.2
Valero, A.3
Moreno, F.4
Hernandez-Chico, C.5
-
21
-
-
0031004339
-
Decreased expression of full-length mRNA for cBCD41 does not correlate with spinal muscular atrophy phenotype severity
-
Nishio, H. et al. Decreased expression of full-length mRNA for cBCD41 does not correlate with spinal muscular atrophy phenotype severity. Neurology 48, 1266-1270 (1997).
-
(1997)
Neurology
, vol.48
, pp. 1266-1270
-
-
Nishio, H.1
-
22
-
-
0031030666
-
Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
-
Schwartz, M. et al. Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy. Hum. Mol. Genet. 6, 99-104 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 99-104
-
-
Schwartz, M.1
-
23
-
-
0028896092
-
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
-
Roy, N. et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80, 167-178 (1995).
-
(1995)
Cell
, vol.80
, pp. 167-178
-
-
Roy, N.1
-
24
-
-
0031026977
-
The gene encoding p44, a subunit of the transcription factor TFIIH. is involved in large-scale deletions associated with Werdnig-Hoffmann disease
-
Burglen, L. et al. The gene encoding p44, a subunit of the transcription factor TFIIH. is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am. J. Hum. Genet. 60, 72-79 (1997).
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 72-79
-
-
Burglen, L.1
-
25
-
-
8044226616
-
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions
-
Carter, T.A. et al. A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum. Mol. Genet. 6, 229-236 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 229-236
-
-
Carter, T.A.1
-
26
-
-
0031937537
-
Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes 5MN and NAIP
-
Chen, Q. et al. Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes 5MN and NAIP. Genomics 48, 121-127 (1998).
-
(1998)
Genomics
, vol.48
, pp. 121-127
-
-
Chen, Q.1
-
27
-
-
0028200804
-
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
-
Melki, J. et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474-1477 (1994).
-
(1994)
Science
, vol.264
, pp. 1474-1477
-
-
Melki, J.1
-
28
-
-
0030881249
-
Genotator: A workbench for sequence annotation
-
Harris, N.L. Genotator: a workbench for sequence annotation. Genome Res. 7, 754-762 (1997).
-
(1997)
Genome Res.
, vol.7
, pp. 754-762
-
-
Harris, N.L.1
-
29
-
-
0029003447
-
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene
-
Selig, S. et al. Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc. Natl Acad. Sci. USA 92, 3702-3706 (1995).
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 3702-3706
-
-
Selig, S.1
-
30
-
-
0030801002
-
Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
-
Altschul, S.F. et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 25, 3389-3402 (1997).
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 3389-3402
-
-
Altschul, S.F.1
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