-
1
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11
-
BRZUSTOWICZ, 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., PETRUSEWICZ, H.I., OTT, J., MUNSAT, T.L., and GILLIAM, T.C. (1990). Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11. 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
Leppert, M.8
Ziter, F.9
Wood, D.10
Dubowitz, V.11
Zerres, K.12
Petrusewicz, H.I.13
Ott, J.14
Munsat, T.L.15
Gilliam, T.C.16
-
2
-
-
0343267780
-
Structure and organization of human survival motor neurone (SMN) gene
-
BURGLEN, L., LEFEBVRE, S., CLERMONT, O., BURLET, P., VIOLLET, L., CRUAUD, C., MUNNICH, A., and MELKI, J. (1996). Structure and organization of human survival motor neurone (SMN) gene. Genomics 32, 479-482.
-
(1996)
Genomics
, vol.32
, pp. 479-482
-
-
Burglen, L.1
Lefebvre, S.2
Clermont, O.3
Burlet, P.4
Viollet, L.5
Cruaud, C.6
Munnich, A.7
Melki, J.8
-
3
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time light cycler PCR
-
FELDKOTTER, M., SCHWARZER, V., WIRTH, R., WIENKER, T.F., and WIRTH, B. (2002). Quantitative analyses of SMN1 and SMN2 based on real-time light cycler PCR. Am. J. Hum. Genet. 70, 358-368.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
4
-
-
0025305576
-
Effects of primer-template mismatches on the polymerase chain reaction
-
KWOK, S., KELLOGG, D.E., MCKINNEY, N., SPASIC, D., GODA, L., LEVENSON, C., and SWINSKY, J.J. (1990). Effects of primer-template mismatches on the polymerase chain reaction. Nucleic Acid Res. 18, 999-1005.
-
(1990)
Nucleic Acid Res.
, vol.18
, pp. 999-1005
-
-
Kwok, S.1
Kellogg, D.E.2
Mckinney, N.3
Spasic, D.4
Goda, L.5
Levenson, C.6
Swinsky, J.J.7
-
5
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
LEFEBVRE, S., BURGLEN, L., REBOULLET, S., CLERMONT, O., BURLET, P., VIOLLET, L., BENICHOU, B., CRUAUD, C., MILLASSEAU, P., ZEVIANI, M., PASLIER, D., FREZAL, J., COHEN, D., WEISSBACH, J., MUNNICH, A., and MELKI, J. (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
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
Paslier, D.11
Frezal, J.12
Cohen, D.13
Weissbach, J.14
Munnich, A.15
Melki, J.16
-
6
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
LORSON, C.L., HAHNEN, E., ANDROPHY, E.J., and WIRTH, B. (1999). A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. USA 96, 6307-6311.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
7
-
-
0034924057
-
Allele-specific amplification for preimplantation genetic diagnosis of spinal muscular atrophy
-
MOUTOU, C., GARDES, N., RONGIERES, C., OHL, J., LEBUGLE, K.B., WITTEMER, C., GERLINGER, P., and VIVILLE, S. (2001). Allele-specific amplification for preimplantation genetic diagnosis of spinal muscular atrophy. Prenat. Diagn. 21, 498-503.
-
(2001)
Prenat. Diagn.
, vol.21
, pp. 498-503
-
-
Moutou, C.1
Gardes, N.2
Rongieres, C.3
Ohl, J.4
Lebugle, K.B.5
Wittemer, C.6
Gerlinger, P.7
Viville, S.8
-
8
-
-
0024605518
-
Analysis of any mutation in DNA: The amplification refractory mutation detection system (ARMS)
-
NEWTON, C.R., GRAHAM, A., HEPTINSTALL, L.E., POWELL, S.J., SUMMERS, C., KALSHEKER, N., SMITH, J.C., and MARKHAM, A.F. (1989). Analysis of any mutation in DNA: The amplification refractory mutation detection system (ARMS). Nucleic Acids Res. 17, 2503-2516.
-
(1989)
Nucleic Acids Res.
, vol.17
, pp. 2503-2516
-
-
Newton, C.R.1
Graham, A.2
Heptinstall, L.E.3
Powell, S.J.4
Summers, C.5
Kalsheker, N.6
Smith, J.C.7
Markham, A.F.8
-
9
-
-
0018906764
-
Classification of spinal muscular atrophies
-
PEARN, J. (1980). Classification of spinal muscular atrophies. Lancet 1, 919-922.
-
(1980)
Lancet
, vol.1
, pp. 919-922
-
-
Pearn, J.1
-
10
-
-
0028922174
-
PCR-based test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
-
VAN DER STEEGE, G., GROOTSCHOLTEN, P.M., VAN DER VLIES, P., DRAAIJERS, T.G., OSINGA, J., COBBEN, J.M., SCHEFFER, H., and BUYS, C.H. (1995). PCR-based 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
Buys, C.H.8
-
11
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron (SMN1) gene in autosomal recessive spinal muscular atrophy
-
WIRTH, B. (2000). An update of the mutation spectrum of the survival motor neuron (SMN1) gene in autosomal recessive spinal muscular atrophy. Hum. Mutat. 15, 228-237.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 228-237
-
-
Wirth, B.1
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