-
1
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990;344:540-541
-
(1990)
Nature
, vol.344
, pp. 540-541
-
-
Brzustowicz, L.M.1
Lehner, T.2
Castilla, L.H.3
-
2
-
-
0025330316
-
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
-
Gilliam TC, Brzustowicz LM, Castilla LH, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990;345:823-825
-
(1990)
Nature
, vol.345
, pp. 823-825
-
-
Gilliam, T.C.1
Brzustowicz, L.M.2
Castilla, L.H.3
-
3
-
-
0025319713
-
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
-
Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990;344:767-768
-
(1990)
Nature
, vol.344
, pp. 767-768
-
-
Melki, J.1
Abdelhak, S.2
Sheth, P.3
-
4
-
-
0026759378
-
Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6
-
Brzustowicz LM, Kleyn PW, Boyce FM, et al. Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. Genomics 1992;13:991-998
-
(1992)
Genomics
, vol.13
, pp. 991-998
-
-
Brzustowicz, L.M.1
Kleyn, P.W.2
Boyce, F.M.3
-
5
-
-
0027523540
-
Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B
-
Soares VM, Brzustowicz LM, Kleyn PW, et al. Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B. Genomics 1993;15:365-371
-
(1993)
Genomics
, vol.15
, pp. 365-371
-
-
Soares, V.M.1
Brzustowicz, L.M.2
Kleyn, P.W.3
-
6
-
-
0028302961
-
Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers
-
Clermont O, Burlet P, Burglen L, et al. Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers. Am J Hum Genet 1994;54:687-694
-
(1994)
Am J Hum Genet
, vol.54
, pp. 687-694
-
-
Clermont, O.1
Burlet, P.2
Burglen, L.3
-
7
-
-
0028891329
-
Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy
-
Brzustowicz LM, Wang CH, Matseoane D, et al. Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy. Am J Hum Genet 1995;56:210-215
-
(1995)
Am J Hum Genet
, vol.56
, pp. 210-215
-
-
Brzustowicz, L.M.1
Wang, C.H.2
Matseoane, D.3
-
8
-
-
0028831592
-
Refinement of the spinal muscular atrophy locus by genetic and physical mapping
-
Wang CH, Kleyn PW, Vitale E, et al. Refinement of the spinal muscular atrophy locus by genetic and physical mapping. Am J Hum Genet 1995;56:202-209
-
(1995)
Am J Hum Genet
, vol.56
, pp. 202-209
-
-
Wang, C.H.1
Kleyn, P.W.2
Vitale, E.3
-
9
-
-
0028606738
-
A YAC contig of the region containing the spinal muscular atrophy gene: Identification of an unstable region
-
Carpten JD, DiDonato CJ, Ingraham SE, et al. A YAC contig of the region containing the spinal muscular atrophy gene: identification of an unstable region. Genomics 1994;24:351-356
-
(1994)
Genomics
, vol.24
, pp. 351-356
-
-
Carpten, J.D.1
DiDonato, C.J.2
Ingraham, S.E.3
-
10
-
-
0028332421
-
A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene
-
Burghes AHM, Ingraham SE, McLean M, et al. A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. Genomics 1994;21:394-402
-
(1994)
Genomics
, vol.21
, pp. 394-402
-
-
Burghes, A.H.M.1
Ingraham, S.E.2
McLean, M.3
-
11
-
-
0028138337
-
Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type I spinal muscular atrophy
-
McLean MD, Roy N, MacKenzie AE, et al. Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type I spinal muscular atrophy. Hum Mol Genet 1994;3:1951-1956
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1951-1956
-
-
McLean, M.D.1
Roy, N.2
MacKenzie, A.E.3
-
12
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
-
13
-
-
0028896092
-
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
-
Roy N, Mahadevan MS, McLean M, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167-178
-
(1995)
Cell
, vol.80
, pp. 167-178
-
-
Roy, N.1
Mahadevan, M.S.2
McLean, M.3
-
14
-
-
0028785098
-
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
-
Haben E, Forkert R, Merke C, et al. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995;4: 1927-1933
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1927-1933
-
-
Haben, E.1
Forkert, R.2
Merke, C.3
-
15
-
-
0029117950
-
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: Association of marker genotype with disease severity and candidate cDNAs
-
Wirth B, Hahnen E, Morgan K, et al. Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet 1995;4:1273-1284
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1273-1284
-
-
Wirth, B.1
Hahnen, E.2
Morgan, K.3
-
17
-
-
0344711494
-
Characterization of BTF2p44, a transcription factor localized to the SMa gene region
-
Carter TA, Wang CH, Bonnemann C, et al. Characterization of BTF2p44, a transcription factor localized to the SMA gene region Am J Hum Genet 1995;57:A312
-
(1995)
Am J Hum Genet
, vol.57
-
-
Carter, T.A.1
Wang, C.H.2
Bonnemann, C.3
-
18
-
-
8044226616
-
A multicopy transcription-repair gene, BTF2p44, maps to the spinal muscular atrophy region and demonstrates disease associated deletions
-
in press
-
Carter TA, Bonnemann CG, Wang CH, et al. A multicopy transcription-repair gene, BTF2p44, maps to the spinal muscular atrophy region and demonstrates disease associated deletions. Hum Mol Genet 1997 (in press)
-
(1997)
Hum Mol Genet
-
-
Carter, T.A.1
Bonnemann, C.G.2
Wang, C.H.3
-
19
-
-
0028842926
-
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
-
Bussaglia E, Clermont O, Tizzano E, et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 1995;11:335-337
-
(1995)
Nat Genet
, vol.11
, pp. 335-337
-
-
Bussaglia, E.1
Clermont, O.2
Tizzano, E.3
-
20
-
-
0028200804
-
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
-
Melki J, Lefebvre S, Burglen L, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1994;264:1474-1477
-
(1994)
Science
, vol.264
, pp. 1474-1477
-
-
Melki, J.1
Lefebvre, S.2
Burglen, L.3
-
21
-
-
0027057672
-
Workshop report: International SMA Consortium meeting
-
Munsat TL, Davies KE. Workshop report: International SMA Consortium meeting. Neuromuscul Disord 1992;2:423-428
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
22
-
-
0030051493
-
T) gene deletions in asymptomatic carriers of spinal muscular atrophy
-
T) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 1996;5:359-365
-
(1996)
Hum Mol Genet
, vol.5
, pp. 359-365
-
-
Wang, C.H.1
Xu, J.2
Carter, T.A.3
-
23
-
-
0027274633
-
Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region
-
Kleyn PW, Wang CH, Lien LL, et al. Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region. Proc Natl Acad Sci USA 1993;90: 6801-6805
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 6801-6805
-
-
Kleyn, P.W.1
Wang, C.H.2
Lien, L.L.3
-
24
-
-
0019981739
-
Linkage of the leuS, emtB and chr genes on chromosome 5 in humans and expression of human genes encoding protein synthetic components in human-Chinese hamster hybrids
-
Dana S, Wasmuth JJ. Linkage of the leuS, emtB and chr genes on chromosome 5 in humans and expression of human genes encoding protein synthetic components in human-Chinese hamster hybrids. Somat Cell Genet 1982;8:245-264
-
(1982)
Somat Cell Genet
, vol.8
, pp. 245-264
-
-
Dana, S.1
Wasmuth, J.J.2
-
25
-
-
0028905919
-
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
-
Rodrigues NR, Owe N, Talbot K, et al. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995;4:631-634
-
(1995)
Hum Mol Genet
, vol.4
, pp. 631-634
-
-
Rodrigues, N.R.1
Owe, N.2
Talbot, K.3
-
26
-
-
0029143853
-
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
-
Cobben JM, van der Steege G, Grootscholten P, et al. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995;57:805-808
-
(1995)
Am J Hum Genet
, vol.57
, pp. 805-808
-
-
Cobben, J.M.1
Van Der Steege, G.2
Grootscholten, P.3
-
27
-
-
0029954338
-
A novel nuclear structure containing the survival motor neurons protein
-
Liu Q, Dreyfuss G. A novel nuclear structure containing the survival motor neurons protein. EMBO J 1996;15:3555-3565
-
(1996)
EMBO J
, vol.15
, pp. 3555-3565
-
-
Liu, Q.1
Dreyfuss, G.2
-
28
-
-
13344278692
-
Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes
-
Liston P, Roy N, Tama K, et al. Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes. Nature 1996;379:349-353
-
(1996)
Nature
, vol.379
, pp. 349-353
-
-
Liston, P.1
Roy, N.2
Tama, K.3
-
29
-
-
0028180697
-
p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNa repair
-
Humber S, van Huuren H, Lute Y, et al. p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. EMBO 1994; 13:2393-2398
-
(1994)
EMBO
, vol.13
, pp. 2393-2398
-
-
Humber, S.1
Van Huuren, H.2
Lute, Y.3
-
30
-
-
0028600051
-
The MO15 cell cycle kinase is associated with the TFIIH transcription-DNA repair factor
-
Roy R, Adamczewski JP, Seroz T, et al. The MO15 cell cycle kinase is associated with the TFIIH transcription-DNA repair factor. Cell 1994;79:1093-1101
-
(1994)
Cell
, vol.79
, pp. 1093-1101
-
-
Roy, R.1
Adamczewski, J.P.2
Seroz, T.3
-
31
-
-
0028885363
-
Different forms of TFIIH for transcription and DNa repair: Holo-TFIIH and a nucleotide excision repairosome
-
Svejstrup JQ, Wang Z, Feaver WJ, et al. Different forms of TFIIH for transcription and DNA repair: Holo-TFIIH and a nucleotide excision repairosome. Cell 1995;80:21-28
-
(1995)
Cell
, vol.80
, pp. 21-28
-
-
Svejstrup, J.Q.1
Wang, Z.2
Feaver, W.J.3
-
32
-
-
0029003447
-
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene
-
Selig S, Bruno S, Scharf JM, et al. Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc Nad Acad Sci USA 1995;92:3702-3706
-
(1995)
Proc Nad Acad Sci USA
, vol.92
, pp. 3702-3706
-
-
Selig, S.1
Bruno, S.2
Scharf, J.M.3
-
33
-
-
0029803986
-
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
-
Brahe C, Clermont O, Zappata S, et al. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 1996;5:1971-1976
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1971-1976
-
-
Brahe, C.1
Clermont, O.2
Zappata, S.3
|