-
2
-
-
0032991013
-
Spinal muscular atrophies: Recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, the Netherlands
-
59th ENMC, International Workshop
-
th ENMC, International Workshop. Spinal muscular atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, the Netherlands. Neuromuscl Disord 1999: 9: 272-278.
-
(1999)
Neuromuscl. Disord.
, vol.9
, pp. 272-278
-
-
-
3
-
-
0029926857
-
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings
-
Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 1996: 27: 8-15.
-
(1996)
Neuropediatrics
, vol.27
, pp. 8-15
-
-
Rudnik-Schöneborn, S.1
Forkert, R.2
Hahnen, E.3
Wirth, B.4
Zerres, K.5
-
5
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 1999: 96: 6307-6311.
-
(1999)
Proc. Natl. Acad. Sci. U S A
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
6
-
-
0032799998
-
A single difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani UR, Lorson CL, Parsons DW et al. A single difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999: 8: 1177-1183.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
-
7
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000: 15: 228-237.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
8
-
-
0025012962
-
Spinal muscular atrophy in African children
-
Moosa A, Dawood A. Spinal muscular atrophy in African children. Neuropediatrics 1990: 21: 27-31.
-
(1990)
Neuropediatrics
, vol.21
, pp. 27-31
-
-
Moosa, A.1
Dawood, A.2
-
9
-
-
0033615566
-
Different molecular basis for spinal muscular atrophy in South African black patients
-
Stevens G, Yawitch T, Rodda J, Verhaart S, Krause A. different molecular basis for spinal muscular atrophy in South African black patients. Am J Med Genet 1999: 86: 420-426.
-
(1999)
Am. J. Med. Genet.
, vol.86
, pp. 420-426
-
-
Stevens, G.1
Yawitch, T.2
Rodda, J.3
Verhaart, S.4
Krause, A.5
-
10
-
-
0035068620
-
Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes
-
Haider MZ, Moosa A, Dalal H, Habib Y, Reynolds L. Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes. J Biomed Sci 2001: 8: 191-196.
-
(2001)
J. Biomed. Sci.
, vol.8
, pp. 191-196
-
-
Haider, M.Z.1
Moosa, A.2
Dalal, H.3
Habib, Y.4
Reynolds, L.5
-
11
-
-
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 et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Nature 1995: 345: 985-986.
-
(1995)
Nature
, vol.345
, pp. 985-986
-
-
Van der Steege, G.1
Grootscholten, P.M.2
Van der Vlies, P.3
-
12
-
-
0028797783
-
Identification and characterisation of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S et al. Identification and characterisation 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
-
-
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, Rudnick-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 1996: 59: 1057-1065.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 1057-1065
-
-
Hahnen, E.1
Schonling, J.2
Rudnick-Schoneborn, S.3
Zerres, K.4
Wirth, B.5
-
15
-
-
0030969388
-
Oculocutaneous albinism (OCA2) in Sub-Saharan Africa: Distribution of the common 2.7kb P gene mutation
-
Stevens G, Ramsay M, Jenkins T. Oculocutaneous albinism (OCA2) in Sub-Saharan Africa: distribution of the common 2.7kb P gene mutation. Hum Genet 1997: 99: 523-527.
-
(1997)
Hum. Genet.
, vol.99
, pp. 523-527
-
-
Stevens, G.1
Ramsay, M.2
Jenkins, T.3
-
16
-
-
0035169491
-
The molecular basis of cystic fibrosis in South Africa
-
Goldman A, Labrum R, Clautres M et al. The molecular basis of cystic fibrosis in South Africa. Clin Genet 2001: 59: 37-41.
-
(2001)
Clin. Genet.
, vol.59
, pp. 37-41
-
-
Goldman, A.1
Labrum, R.2
Clautres, M.3
-
17
-
-
84925910535
-
The spread of the Bantu languages
-
Phillipson DW. The spread of the Bantu languages. Sci Am 1997: 236: 106-114.
-
(1997)
Sci. Am.
, vol.236
, pp. 106-114
-
-
Phillipson, D.W.1
-
18
-
-
0012619551
-
Spinal muscular atrophy in the South African black population
-
(Abstract)
-
Labrum R, Rodda J, Krause A. Spinal muscular atrophy in the South African black population. Neuromuscl Disord 2000: 10: 366-367 (Abstract).
-
(2000)
Neuromuscl. Disord.
, vol.10
, pp. 366-367
-
-
Labrum, R.1
Rodda, J.2
Krause, A.3
|