-
1
-
-
0028978717
-
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
-
Brahe C., Servidei S., Zappata S., Ricci E., Tonali P., Neri G. Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet. 346:1995;741-742.
-
(1995)
Lancet
, vol.346
, pp. 741-742
-
-
Brahe, C.1
Servidei, S.2
Zappata, S.3
Ricci, E.4
Tonali, P.5
Neri, G.6
-
2
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
Brzustowski L.M., Lehner T., Castilla L.H., Penchaszadeh G.K., Wilhelmsen K.C., Daniels R., Davies K.E., Leppert M., Ziter F., Wood D., Dubowitz V., Zerres K., Hausmanowa-Petrusewicz I., Ott J., Munsat T.L., Gilliam T.C. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 40:1990;540-541.
-
(1990)
Nature
, vol.40
, pp. 540-541
-
-
Brzustowski, 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
Leppert, M.8
Ziter, F.9
Wood, D.10
Dubowitz, V.11
Zerres, K.12
Hausmanowa-Petrusewicz, I.13
Ott, J.14
Munsat, T.L.15
Gilliam, T.C.16
-
3
-
-
0031026977
-
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease
-
Bürglen L., Seroz T., Miniou P., Lefebvre S., Burlet P., Munnich A., Viegas Pequinot E., Egly J., Melki J. 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. 60:1997;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
Viegas Pequinot, E.7
Egly, J.8
Melki, J.9
-
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. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J. Med. Genet. 33:1996;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
-
-
0344711494
-
Characterization of BTF2p44, a transcription factor localized to the SMA gene region
-
Carter T.A., Wang C., Bonnemann C., Obici S., Prikhojan A., Grunn A., Xu J., Ross B., Kunkel L., Gilliam T.C. Characterization of BTF2p44, a transcription factor localized to the SMA gene region. Am. J. Hum. Genet. 57:1995;A312.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 312
-
-
Carter, T.A.1
Wang, C.2
Bonnemann, C.3
Obici, S.4
Prikhojan, A.5
Grunn, A.6
Xu, J.7
Ross, B.8
Kunkel, L.9
Gilliam, T.C.10
-
7
-
-
0029618687
-
SMN gene deletions in adult-onset spinal muscular atrophy
-
Clermont O., Burlet P., Lefebvre S., Bürglen L., Munnich A., Melki J. SMN gene deletions in adult-onset spinal muscular atrophy. Lancet. 346:1995;1712.
-
(1995)
Lancet
, vol.346
, pp. 1712
-
-
Clermont, O.1
Burlet, P.2
Lefebvre, S.3
Bürglen, L.4
Munnich, A.5
Melki, J.6
-
8
-
-
0030896085
-
Cloning, characterization, and copy number of the murine survival motor neuron gene: Homolog of the spinal muscular atrophy-determining gene
-
DiDinato C.J., Chen X-N., Noya D., Korenberg J.R., Nadeau J.H., Simard L.R. Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res. 7:1997;339-352.
-
(1997)
Genome Res.
, vol.7
, pp. 339-352
-
-
Didinato, C.J.1
Chen, X-N.2
Noya, D.3
Korenberg, J.R.4
Nadeau, J.H.5
Simard, L.R.6
-
9
-
-
0029147787
-
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients
-
Gennarelli M., Lucarelli M., Capon F., Pizzuti A., Merlini L., Angelini C., Novelli G., Dallapiccola B. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem. Biophys. Res. Commun. 213:1995;342-348.
-
(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
-
10
-
-
0025330316
-
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
-
Gilliam T.C., Brzustowicz L.M., Castilla L.H., Lehner T., Penschaszadeh G.K., Daniels R.J., Byth B.C., Knowles J., Hislop J.E., Shapira Y., Dubowitz V., Munsat T.L., Ott J., Davies K.E. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature. 345:1990;823-826.
-
(1990)
Nature
, vol.345
, pp. 823-826
-
-
Gilliam, T.C.1
Brzustowicz, L.M.2
Castilla, L.H.3
Lehner, T.4
Penschaszadeh, G.K.5
Daniels, R.J.6
Byth, B.C.7
Knowles, J.8
Hislop, J.E.9
Shapira, Y.10
Dubowitz, V.11
Munsat, T.L.12
Ott, J.13
Davies, K.E.14
-
11
-
-
0013900507
-
Oxidative enzymes in spinal motor neurons in Werdnig Hoffman disease
-
Huttenlocher P.R., Cohen R.B. Oxidative enzymes in spinal motor neurons in Werdnig Hoffman disease. Neurology. 16:1966;398-406.
-
(1966)
Neurology
, vol.16
, pp. 398-406
-
-
Huttenlocher, P.R.1
Cohen, R.B.2
-
12
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S., Bürglen L., Reboullet S., Clermont O., Burlet P., Viollet L., Bénichou B., Cruaud C., Millasseau P., Zeviani M., Le Paslier D., Frézal J., Cohen D., Weissenbach J., Munnich A., Melki J. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 80:1995;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
Bénichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
Le Paslier, D.11
Frézal, J.12
Cohen, D.13
Weissenbach, J.14
Munnich, A.15
Melki, J.16
-
13
-
-
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. 15:1996;3555-3565.
-
(1996)
EMBO J.
, vol.15
, pp. 3555-3565
-
-
Liu, Q.1
Dreyfuss, G.2
-
14
-
-
0025319713
-
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
-
Melki J., Abdelhack S., Sheth P., Bachelot M.F., Burlet P., Marcadet A., Aicardi J., Barois A., Carriere J.P., Fardeau M., Fontan D., Ponsot G., Billette T., Angelini C., Barbosa C., Ferriere G., Lanzi G., Ottolini A., Babron M.C., Cohen D., Hanauer A., Clerget-Darpoux F., Lathrop M., Munnich A., Frezal J. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 344:1990;767-768.
-
(1990)
Nature
, vol.344
, pp. 767-768
-
-
Melki, J.1
Abdelhack, S.2
Sheth, P.3
Bachelot, M.F.4
Burlet, P.5
Marcadet, A.6
Aicardi, J.7
Barois, A.8
Carriere, J.P.9
Fardeau, M.10
Fontan, D.11
Ponsot, G.12
Billette, T.13
Angelini, C.14
Barbosa, C.15
Ferriere, G.16
Lanzi, G.17
Ottolini, A.18
Babron, M.C.19
Cohen, D.20
Hanauer, A.21
Clerget-Darpoux, F.22
Lathrop, M.23
Munnich, A.24
Frezal, J.25
more..
-
15
-
-
0025299356
-
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-14
-
and the French SMA Investigators
-
Melki, J., Sheth, P., Abdelhak, S., Burlet, P., Bachelot, M.F., Lathrop, M.G., Frezal, M., Munnich, A. and the French SMA Investigators, 1990. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-14. 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, M.7
Munnich, A.8
-
16
-
-
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., Bénichou B., Zeviani M., Le Paslier D., Cohen D., Weissenbach J., Munnich A. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science. 264:1994;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
Bénichou, B.8
Zeviani, M.9
Le Paslier, D.10
Cohen, D.11
Weissenbach, J.12
Munnich, A.13
-
17
-
-
44949282843
-
Workshop report: International SMA Collaboration
-
Munsat T.L. Workshop report: International SMA Collaboration. Neuromusc. Disord. 1:1991;81.
-
(1991)
Neuromusc. Disord.
, vol.1
, pp. 81
-
-
Munsat, T.L.1
-
18
-
-
0027057672
-
Meeting report: International SMA Consortium
-
Munsat T.L., Davies K.E. Meeting report: International SMA Consortium. Neuromusc. Disord. 2:1992;423-428.
-
(1992)
Neuromusc. Disord.
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
19
-
-
0030020799
-
Gene deletions in spinal muscular atrophy
-
Rodrigues N.R., Owen N., Talbot K., Patel S., Muntoni F., Ignatius J., Dubowitz V., Davies K.E. Gene deletions in spinal muscular atrophy. J. Med. Genet. 33:1996;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
Davies, K.E.8
-
20
-
-
0028896092
-
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
-
Roy N., Mahadevan M.S., McLean M., Shutler G., Yaraghi Z., Farahani R., Baird S., Besner-Johnston A., Lefebvre S., Kang X., Salih M., Aubrey H., Tamai K., Guan X., Ioammou P., Crawford T.O., deJong P.J., Surh L., Ikeda J.E., Korneluk R.G., MacKenzie A. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell. 80:1995;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
Besner-Johnston, A.8
Lefebvre, S.9
Kang, X.10
Salih, M.11
Aubrey, H.12
Tamai, K.13
Guan, X.14
Ioammou, P.15
Crawford, T.O.16
Dejong, P.J.17
Surh, L.18
Ikeda, J.E.19
Korneluk, R.G.20
MacKenzie, A.21
more..
-
21
-
-
0031044279
-
Missense mutation clustering in the survival motor neuron gene: A role for a conserved tyrosine and glycine rich region in RNA metabolism
-
Talbot K., Ponting C.P., Theodosiou A.M., Rogrigues N.R., Surtees R., Mountford R., Davies K.E. Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region in RNA metabolism. Hum. Mol. Genet. 6:1997;497-500.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 497-500
-
-
Talbot, K.1
Ponting, C.P.2
Theodosiou, A.M.3
Rogrigues, N.R.4
Surtees, R.5
Mountford, R.6
Davies, K.E.7
-
22
-
-
0031568882
-
CDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn)
-
Viollet L., Bertrandy S., Bueno Brunialti A.L., Lefebvre S., Burlet P., Clermont O., Cruaud C., Guenet J., Munnich A., Melki J. cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). Genomics. 40:1997;185-188.
-
(1997)
Genomics
, vol.40
, pp. 185-188
-
-
Viollet, L.1
Bertrandy, S.2
Bueno Brunialti, A.L.3
Lefebvre, S.4
Burlet, P.5
Clermont, O.6
Cruaud, C.7
Guenet, J.8
Munnich, A.9
Melki, J.10
|