-
1
-
-
0029803986
-
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
-
Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G (1996) Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 5: 1971-1976
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1971-1976
-
-
Brahe, C.1
Clermont, O.2
Zappata, S.3
Tiziano, F.4
Melki, J.5
Neri, G.6
-
2
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to 5q11.2-13.3
-
Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, et al (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to 5q11.2-13.3. Nature 344:540-541
-
(1990)
Nature
, vol.344
, pp. 540-541
-
-
Brzustowicz, L.M.1
Lehner, T.2
Castilla, L.H.3
Penchaszadeh, G.K.4
Wilhelmsen, K.C.5
Daniels, R.6
Davies, K.E.7
-
3
-
-
0031026977
-
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffman disease
-
Bürglen L, Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, et al (1997) 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 60:72-79
-
(1997)
Am J Hum Genet
, vol.60
, pp. 72-79
-
-
Bürglen, L.1
Seroz, T.2
Miniou, P.3
Lefebvre, S.4
Burlet, P.5
Munnich, A.6
Pequignot, E.V.7
-
4
-
-
0029880997
-
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
-
Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J (1996) Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J Med Genet 33:281-283
-
(1996)
J Med Genet
, vol.33
, pp. 281-283
-
-
Burlet, P.1
Bürglen, L.2
Clermont, O.3
Lefebvre, S.4
Viollet, L.5
Munnich, A.6
Melki, J.7
-
5
-
-
0028842926
-
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
-
Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, et al (1995) A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 11:335-337
-
(1995)
Nat Genet
, vol.11
, pp. 335-337
-
-
Bussaglia, E.1
Clermont, O.2
Tizzano, E.3
Lefebvre, S.4
Bürglen, L.5
Cruaud, C.6
Urtizberea, J.A.7
-
6
-
-
0028606738
-
A YAC contig of the region containing the spinal muscular atrophy gene (SMA): Identification of an unstable region
-
Carpten JD, DiDonato CJ, Ingraham SE, Wagner MC, Nieuwenhuijsen BW, Wasmuth JJ, Burghes AH (1994) A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region. Genomics 24:351-356
-
(1994)
Genomics
, vol.24
, pp. 351-356
-
-
Carpten, J.D.1
DiDonato, C.J.2
Ingraham, S.E.3
Wagner, M.C.4
Nieuwenhuijsen, B.W.5
Wasmuth, J.J.6
Burghes, A.H.7
-
7
-
-
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, de Visser M, Scheffer H, Buys CHCM (1995) Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 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
De Visser, M.4
Scheffer, H.5
Buys, C.H.C.M.6
-
8
-
-
0024316726
-
Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes
-
Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T (1989) Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes. EMBO J 8:1393-1402
-
(1989)
EMBO J
, vol.8
, pp. 1393-1402
-
-
Collier, S.1
Sinnott, P.J.2
Dyer, P.A.3
Price, D.A.4
Harris, R.5
Strachan, T.6
-
9
-
-
0027507885
-
Disease gene mapping in isolated human populations: The example of Finland
-
de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30:857-865
-
(1993)
J Med Genet
, vol.30
, pp. 857-865
-
-
De La Chapelle, A.1
-
10
-
-
0029834810
-
Clinical and molecular genetic features of congenital spinal muscular atrophy
-
Devriendt K, Lammens M, Schollen E, Van Hole C, Dom R, Devlieger H, Cassiman J-J, et al (1996) Clinical and molecular genetic features of congenital spinal muscular atrophy. Ann Neurol 40:731-738
-
(1996)
Ann Neurol
, vol.40
, pp. 731-738
-
-
Devriendt, K.1
Lammens, M.2
Schollen, E.3
Van Hole, C.4
Dom, R.5
Devlieger, H.6
Cassiman, J.-J.7
-
11
-
-
0031059705
-
Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
-
DiDonato CJ, Ingraham SE, Mendell JR, Prior TW, Lenard S, Moxley RT III, Florence J, et al (1997) Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol 41:230-237
-
(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
-
12
-
-
0028171819
-
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy
-
DiDonato CJ, Morgan K, Carpten JD, Fuerst P, Ingraham SE, Prescott G, McPherson JD, et al (1994) Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet 55:1218-1229
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1218-1229
-
-
DiDonato, C.J.1
Morgan, K.2
Carpten, J.D.3
Fuerst, P.4
Ingraham, S.E.5
Prescott, G.6
McPherson, J.D.7
-
14
-
-
0026276117
-
Clinical and genetic heterogeneity in spinal muscular atrophy - The multiple allele model
-
Emery AEH (1991) Clinical and genetic heterogeneity in spinal muscular atrophy - the multiple allele model. Neuromuscul Disord 1:307-308
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 307-308
-
-
Emery, A.E.H.1
-
15
-
-
0027161026
-
A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13
-
Francis MJ, Morrison KE, Campbell L, Grewal PK, Christodoulou Z, Daniels RJ, Monaco AP, et al (1993) A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Hum Mol Genet 2:1161-1167
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1161-1167
-
-
Francis, M.J.1
Morrison, K.E.2
Campbell, L.3
Grewal, P.K.4
Christodoulou, Z.5
Daniels, R.J.6
Monaco, A.P.7
-
16
-
-
0029074146
-
Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13
-
Francis MJ, Nesbit MA, Theodosiou AM, Rodrigues NR, Campbell L, Christodoulou Z, Qureshi SJ, et al (1995) Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13. Genomics 27:366-369
-
(1995)
Genomics
, vol.27
, pp. 366-369
-
-
Francis, M.J.1
Nesbit, M.A.2
Theodosiou, A.M.3
Rodrigues, N.R.4
Campbell, L.5
Christodoulou, Z.6
Qureshi, S.J.7
-
17
-
-
0025330316
-
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
-
Gilliam TC, Brzustowicz IM, Castilla LH, Lehner T, Penchaszadeh R, Daniels RJ, Byth BC, et al (1990) Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345:823-825
-
(1990)
Nature
, vol.345
, pp. 823-825
-
-
Gilliam, T.C.1
Brzustowicz, I.M.2
Castilla, L.H.3
Lehner, T.4
Penchaszadeh, R.5
Daniels, R.J.6
Byth, B.C.7
-
18
-
-
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
-
Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B (1995) 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 4:1927-1933
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1927-1933
-
-
Hahnen, E.1
Forkert, R.2
Marke, C.3
Rudnik-Schöneborn, S.4
Schönling, J.5
Zerres, K.6
Wirth, B.7
-
19
-
-
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, Schönling J, Rudnik-Schöneborn S, Zerres K, Wirth B (1996) 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)
Am J Hum Genet
, vol.59
, pp. 1057-1065
-
-
Hahnen, E.1
Schönling, J.2
Rudnik-Schöneborn, S.3
Zerres, K.4
Wirth, B.5
-
20
-
-
0028180697
-
p44 and p34 subunits of the BTF2/ TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair
-
Humbert S, van Vuuren H, Lutz Y, Hoeijmakers JHJ, Egly JM, Moncollin V (1994) p44 and p34 subunits of the BTF2/ TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. EMBO J 13:2393-2398
-
(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
Moncollin, V.6
-
21
-
-
1842487117
-
Childhood spinal muscular atrophy in Finland
-
PhD thesis, University of Tampere. Tampere, Finland
-
Ignatius J (1992) Childhood spinal muscular atrophy in Finland. PhD thesis, University of Tampere. Acta Univ Tamperensis A, vol 358. Tampere, Finland
-
(1992)
Acta Univ Tamperensis A
, vol.358
-
-
Ignatius, J.1
-
22
-
-
0027274633
-
Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region
-
Kleyn PW, Wang CH, Lien LL, Vitale E, Pan J, Ross BM, Grunn A, et al (1993) Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region. Proc Natl Acad Sci USA 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
Vitale, E.4
Pan, J.5
Ross, B.M.6
Grunn, A.7
-
23
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Bürglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
-
24
-
-
85030299596
-
Strong correlation between the survival motor neuron (SMN) protein level and SMA phenotypes
-
Lefebvre S, Burlet P, Bertrandy S, Clermont O, Bürglen L, Viollet L, Munnich A, et al (1996) Strong correlation between the survival motor neuron (SMN) protein level and SMA phenotypes. Am J Hum Genet Suppl 59:A268
-
(1996)
Am J Hum Genet Suppl
, vol.59
-
-
Lefebvre, S.1
Burlet, P.2
Bertrandy, S.3
Clermont, O.4
Bürglen, L.5
Viollet, L.6
Munnich, A.7
-
25
-
-
0025292566
-
Prenatal diagnosis of single gene disorders in northern Finland
-
Leisti J, Jouppila P, Mustonen A, Kahkonen M, Herva R, Ruokonen A, Kirkinen P (1990) Prenatal diagnosis of single gene disorders in northern Finland. Ann Med 22:123-129
-
(1990)
Ann Med
, vol.22
, pp. 123-129
-
-
Leisti, J.1
Jouppila, P.2
Mustonen, A.3
Kahkonen, M.4
Herva, R.5
Ruokonen, A.6
Kirkinen, P.7
-
26
-
-
0029954338
-
A novel nuclear structure containing the survival of motor neurons protein
-
Liu Q, Dreyfuss G (1996) A novel nuclear structure containing the survival of motor neurons protein. EMBO J 15:3555-3565
-
(1996)
EMBO J
, vol.15
, pp. 3555-3565
-
-
Liu, Q.1
Dreyfuss, G.2
-
27
-
-
0029971161
-
Unusual molecular findings in autosomal recessive spinal muscular atrophy
-
Matthijs G, Schollen E, Legius E, Devriendt K, Goemans N, Kayserili H, Apak MY, et al (1996) Unusual molecular findings in autosomal recessive spinal muscular atrophy. J Med Genet 33:469-474
-
(1996)
J Med Genet
, vol.33
, pp. 469-474
-
-
Matthijs, G.1
Schollen, E.2
Legius, E.3
Devriendt, K.4
Goemans, N.5
Kayserili, H.6
Apak, M.Y.7
-
28
-
-
0025319713
-
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
-
Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, et al (1990a) Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344: 767-768
-
(1990)
Nature
, vol.344
, pp. 767-768
-
-
Melki, J.1
Abdelhak, S.2
Sheth, P.3
Bachelot, M.F.4
Burlet, P.5
Marcadet, A.6
Aicardi, J.7
-
29
-
-
0028200804
-
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
-
Melki J, Lefebvre S, Bürglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, et al (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264:1474-1477
-
(1994)
Science
, vol.264
, pp. 1474-1477
-
-
Melki, J.1
Lefebvre, S.2
Bürglen, L.3
Burlet, P.4
Clermont, O.5
Millasseau, P.6
Reboullet, S.7
-
30
-
-
0025299356
-
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14
-
Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot MF, Lathrop MG, Frezal J, et al (1990b) Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. Lancet 336: 271-273
-
(1990)
Lancet
, vol.336
, pp. 271-273
-
-
Melki, J.1
Sheth, P.2
Abdelhak, S.3
Burlet, P.4
Bachelot, M.F.5
Lathrop, M.G.6
Frezal, J.7
-
31
-
-
0027057672
-
Meeting report: International SMA consortium meeting
-
Munsat TL, Davies KE (1992) Meeting report: International SMA consortium meeting. Neuromuscul Disord 2:423-428
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
32
-
-
0023664215
-
Characterization of a human 'midisatellite' sequence
-
Nakamura Y, Julier C, Wolff R, Holm T, O'Connell P, Leppert M, White R (1987) Characterization of a human 'midisatellite' sequence. Nucleic Acids Res 15:2537-2547
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 2537-2547
-
-
Nakamura, Y.1
Julier, C.2
Wolff, R.3
Holm, T.4
O'Connell, P.5
Leppert, M.6
White, R.7
-
33
-
-
0029827514
-
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: Further evidence for SMN as the primary SMA determining gene
-
Parsons WD, McAndrew P, Monani U, Mendell J, Burghes A, Prior T (1996) An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA determining gene. Hum Mol Genet 5:1727-1732
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1727-1732
-
-
Parsons, W.D.1
McAndrew, P.2
Monani, U.3
Mendell, J.4
Burghes, A.5
Prior, T.6
-
34
-
-
0028905919
-
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
-
Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4:631-634
-
(1995)
Hum Mol Genet
, vol.4
, pp. 631-634
-
-
Rodrigues, N.R.1
Owen, N.2
Talbot, K.3
Ignatius, J.4
Dubowitz, V.5
Davies, K.E.6
-
35
-
-
0030020799
-
Gene deletions in spinal muscular atrophy
-
Rodrigues NR, Owen N, Talbot K, Patel S, Muntoni F, Ignatius J, Dubowitz V, et al (1996) Gene deletions in spinal muscular atrophy. J Med Genet 33:93-96
-
(1996)
J Med Genet
, vol.33
, pp. 93-96
-
-
Rodrigues, N.R.1
Owen, N.2
Talbot, K.3
Patel, S.4
Muntoni, F.5
Ignatius, J.6
Dubowitz, V.7
-
36
-
-
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, Baird S, et al (1995a) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80:167-178
-
(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
Baird, S.7
-
37
-
-
0029024361
-
Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays
-
Roy N, McLean MD, Besner JA, Lefebvre C, Salih M, Carpten JD, Burghes AH, et al (1995b) Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays. Genomics 26:451-460
-
(1995)
Genomics
, vol.26
, pp. 451-460
-
-
Roy, N.1
McLean, M.D.2
Besner, J.A.3
Lefebvre, C.4
Salih, M.5
Carpten, J.D.6
Burghes, A.H.7
-
38
-
-
0028674996
-
A rearrangement on chromosome 5 of an expressed human betaglucuronidase pseudogene
-
Sargent CA, Chalmers IJ, Leversha M, Affara NA (1994) A rearrangement on chromosome 5 of an expressed human betaglucuronidase pseudogene. Mamm Genome 5:791-796
-
(1994)
Mamm Genome
, vol.5
, pp. 791-796
-
-
Sargent, C.A.1
Chalmers, I.J.2
Leversha, M.3
Affara, N.A.4
-
39
-
-
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, Sorensen N, Hansen FJ, Hertz JM, Norby S, Tranebjaerg L, Skovby F (1997) 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)
Hum Mol Genet
, vol.6
, pp. 99-104
-
-
Schwartz, M.1
Sorensen, N.2
Hansen, F.J.3
Hertz, J.M.4
Norby, S.5
Tranebjaerg, L.6
Skovby, F.7
-
40
-
-
0029003447
-
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene
-
Selig S, Bruno S, Scharf JM, Wang CH, Vitale E, Gilliam TC, Kunkel LM (1995) Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc Natl Acad Sci USA 92:3702-3706
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 3702-3706
-
-
Selig, S.1
Bruno, S.2
Scharf, J.M.3
Wang, C.H.4
Vitale, E.5
Gilliam, T.C.6
Kunkel, L.M.7
-
41
-
-
0031044279
-
Missense mutation clustering in the survival motor neuron gene: A role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
-
Talbot K, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE (1997) Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum Mol Genet 6:497-500
-
(1997)
Hum Mol Genet
, vol.6
, pp. 497-500
-
-
Talbot, K.1
Ponting, C.P.2
Theodosiou, A.M.3
Rodrigues, N.R.4
Surtees, R.5
Mountford, R.6
Davies, K.E.7
-
42
-
-
16944362621
-
Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy
-
Talbot K, Rodrigues N, Bernert G, Bittner R, Davies K (1996) Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy. J Med Genet 33:1019-1021
-
(1996)
J Med Genet
, vol.33
, pp. 1019-1021
-
-
Talbot, K.1
Rodrigues, N.2
Bernert, G.3
Bittner, R.4
Davies, K.5
-
43
-
-
85030299677
-
Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype
-
in press
-
Talbot K, Rodrigues NR, Ignatius J, Muntoni F, Davies KE. Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype. Neuromuscul Disord (in press)
-
Neuromuscul Disord
-
-
Talbot, K.1
Rodrigues, N.R.2
Ignatius, J.3
Muntoni, F.4
Davies, K.E.5
-
44
-
-
0027943435
-
Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13
-
Theodosiou AM, Morrison KE, Nesbit AM, Daniels RJ, Campbell L, Francis MJ, Christodoulou Z, et al (1994) Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13. Am J Hum Genet 55:1209-1217
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1209-1217
-
-
Theodosiou, A.M.1
Morrison, K.E.2
Nesbit, A.M.3
Daniels, R.J.4
Campbell, L.5
Francis, M.J.6
Christodoulou, Z.7
-
45
-
-
0029819241
-
Apparent gene conversion involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
-
van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen G-JB, et al (1996) Apparent gene conversion involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet 59:834-838
-
(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.B.7
-
46
-
-
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, Scheffer H, et al (1995) PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345:985-986
-
(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
Scheffer, H.7
-
47
-
-
0030047445
-
Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype
-
Velasco E, Valero C, Valero A, Moreno F, Hernandez CC (1996) Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet 5:257-263
-
(1996)
Hum Mol Genet
, vol.5
, pp. 257-263
-
-
Velasco, E.1
Valero, C.2
Valero, A.3
Moreno, F.4
Hernandez, C.C.5
-
49
-
-
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, DiDonato CJ, Dadze A, Rudnik SS, Simard LR, et al (1995) Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet 4:1273-1284
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1273-1284
-
-
Wirth, B.1
Hahnen, E.2
Morgan, K.3
DiDonato, C.J.4
Dadze, A.5
Rudnik, S.S.6
Simard, L.R.7
|