-
1
-
-
0002428443
-
Disorders of the lower motor neurone: The spinal muscular atrophies
-
Dubowitz V, ed. London: Saunders
-
1. Dubowitz V. Disorders of the lower motor neurone: the spinal muscular atrophies. In: Dubowitz V, ed. Muscle Disorders in Childhood, London: Saunders, 1995: 325-369.
-
(1995)
Muscle Disorders in Childhood
, pp. 325-369
-
-
Dubowitz, V.1
-
2
-
-
0027941556
-
Disorders of the motor neurone
-
Harding A E, ed. London: Baillière Tindall
-
2. Morrison K E, Harding A E. Disorders of the motor neurone. In: Harding A E, ed. Genetics and Neurology. London: Baillière Tindall, 1994: 431-445.
-
(1994)
Genetics and Neurology
, pp. 431-445
-
-
Morrison, K.E.1
Harding, A.E.2
-
3
-
-
0002518115
-
Spinal muscular atrophies (SMAs)
-
Bundey S, ed. Edinburgh: Churchill Livingstone
-
3. Bundey S. Spinal muscular atrophies (SMAs). In: Bundey S, ed. Genetics and Neurology. Edinburgh: Churchill Livingstone, 1985: 172-193.
-
(1985)
Genetics and Neurology
, pp. 172-193
-
-
Bundey, S.1
-
4
-
-
44949282843
-
-
Workshop Report. International SMA Collaboration
-
4. Munsat T L. Workshop Report. International SMA Collaboration. Neuromusc Disord 1991; 1: 81.
-
(1991)
Neuromusc Disord
, vol.1
, pp. 81
-
-
Munsat, T.L.1
-
5
-
-
0011290722
-
The molecular basis of the spinal muscular atrophies
-
Rosenberg R N, Pruisner S B, DiMano S, Barchi R L, Kunkel L M, eds. USA: Butterworth Heineman
-
5. Gilliam T C, Brzustowicz L M. The molecular basis of the spinal muscular atrophies. In: Rosenberg R N, Pruisner S B, DiMano S, Barchi R L, Kunkel L M, eds. The Molecular and Genetic Basis of Neurological Disease. USA: Butterworth Heineman, 1993: 883-887.
-
(1993)
The Molecular and Genetic Basis of Neurological Disease
, pp. 883-887
-
-
Gilliam, T.C.1
Brzustowicz, L.M.2
-
7
-
-
0014484292
-
Neurogenic muscular atrophy of infancy with prolonged survival
-
7. Munsat T L, Woods R, Fowler W, Pearson C M. Neurogenic muscular atrophy of infancy with prolonged survival. Brain 1969; 92: 9-24.
-
(1969)
Brain
, vol.92
, pp. 9-24
-
-
Munsat, T.L.1
Woods, R.2
Fowler, W.3
Pearson, C.M.4
-
8
-
-
0018238065
-
Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy
-
8. Pearn J H. Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978; 15: 409-413.
-
(1978)
J Med Genet
, vol.15
, pp. 409-413
-
-
Pearn, J.H.1
-
9
-
-
0344255833
-
The gene frequency of acute Werdnig-Hoffmann disease (SMA Type I). A total population survey in north-east England
-
9. Pearn J H. The gene frequency of acute Werdnig-Hoffmann disease (SMA Type I). A total population survey in north-east England. J Med Genet 1973; 10: 260-265.
-
(1973)
J Med Genet
, vol.10
, pp. 260-265
-
-
Pearn, J.H.1
-
10
-
-
0024310186
-
A Hungarian study on Werdnig-Hoffmann disease
-
10. Cziezel A, Hamula J. A Hungarian study on Werdnig-Hoffmann disease. J Med Genet 1989; 26: 761-763.
-
(1989)
J Med Genet
, vol.26
, pp. 761-763
-
-
Cziezel, A.1
Hamula, J.2
-
13
-
-
0017662613
-
High incidence of spinal muscular atrophy type I (Werdnig-Hoffmann disease) in the Karaite community in Israel
-
13. Fried K, Mundel G. High incidence of spinal muscular atrophy type I (Werdnig-Hoffmann disease) in the Karaite community in Israel. Clin Genet 1977; 12: 250-251.
-
(1977)
Clin Genet
, vol.12
, pp. 250-251
-
-
Fried, K.1
Mundel, G.2
-
14
-
-
0021257788
-
Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Réunion Island
-
14. Pascalet-Guidon M J, Bois E, Feingold J, Mattei J-F, Combes J-C, Hamon C. Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Réunion Island. Clin Genet 1984; 26: 39-42.
-
(1984)
Clin Genet
, vol.26
, pp. 39-42
-
-
Pascalet-Guidon, M.J.1
Bois, E.2
Feingold, J.3
Mattei, J.-F.4
Combes, J.-C.5
Hamon, C.6
-
15
-
-
0022081550
-
Werdnig-Hoffmann disease on Réunion Island: A founder effect?
-
15. Schaap T. Werdnig-Hoffmann disease on Réunion Island: a founder effect? Clin Genet 1985; 27: 617-619.
-
(1985)
Clin Genet
, vol.27
, pp. 617-619
-
-
Schaap, T.1
-
16
-
-
0018216444
-
Segregation analysis of chronic childhood spinal muscular atrophy
-
16. Pearn J. Segregation analysis of chronic childhood spinal muscular atrophy. J Med Genet 1978; 15: 418-423.
-
(1978)
J Med Genet
, vol.15
, pp. 418-423
-
-
Pearn, J.1
-
17
-
-
0023113813
-
Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy
-
17. Zerres K, Stephan M, Kwehren U, et al. Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy. Clin Genet 1987; 31: 276-277.
-
(1987)
Clin Genet
, vol.31
, pp. 276-277
-
-
Zerres, K.1
Stephan, M.2
Kwehren, U.3
-
18
-
-
0022505902
-
Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic hypothesis
-
18. Bouwsma G, Leschot N J. Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic hypothesis. Clin Genet 1986; 30; 145-149.
-
(1986)
Clin Genet
, vol.30
, pp. 145-149
-
-
Bouwsma, G.1
Leschot, N.J.2
-
19
-
-
0014323189
-
Kugelberg-Welander disease with particular reference to sex-influenced manifestations
-
19. Furukawa T, Nakoo K, Sugita H, et al. Kugelberg-Welander disease with particular reference to sex-influenced manifestations. Arch Neurol 1986; 19: 156-162.
-
(1986)
Arch Neurol
, vol.19
, pp. 156-162
-
-
Furukawa, T.1
Nakoo, K.2
Sugita, H.3
-
20
-
-
0011361688
-
The Wohlfart-Kugelberg-Welander disease: Review of the literature and report of a case
-
20. Smith J B, Patel A. The Wohlfart-Kugelberg-Welander disease: review of the literature and report of a case. Neurology 1965; 15: 469-473.
-
(1965)
Neurology
, vol.15
, pp. 469-473
-
-
Smith, J.B.1
Patel, A.2
-
21
-
-
0021749126
-
Chronic proximal spinal muscular atrophy of childhood and adolescence: Sex influence
-
21. Hausemanova-Petrusewicz I, Zaremba J, Borkowska J, et al. Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. J Med Genet 1984; 21: 447-450.
-
(1984)
J Med Genet
, vol.21
, pp. 447-450
-
-
Hausemanova-Petrusewicz, I.1
Zaremba, J.2
Borkowska, J.3
-
22
-
-
0017173187
-
Genetic investigations on chronic form of infantile and juvenile spinal muscular atrophy
-
22. Hausemanova-Petrusewicz I, Zaremba J, Borkowska J, Prot J. Genetic investigations on chronic form of infantile and juvenile spinal muscular atrophy: J Neurol 1976; 213: 335-346.
-
(1976)
J Neurol
, vol.213
, pp. 335-346
-
-
Hausemanova-Petrusewicz, I.1
Zaremba, J.2
Borkowska, J.3
Prot, J.4
-
23
-
-
0026530474
-
Possible influences on the expression of X chromosome linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy
-
23. Beggs A H, Neumann P E, Arahata K, et al. Possible influences on the expression of X chromosome linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc Natl Acad Sci USA 1992; 89: 623-627.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 623-627
-
-
Beggs, A.H.1
Neumann, P.E.2
Arahata, K.3
-
24
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
24. LaSpada A R, Wilson E M, LuBahn D B, Harding A E, Fischbeck K H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352: 77-79
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
LaSpada, A.R.1
Wilson, E.M.2
LuBahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
25
-
-
13344278692
-
Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes
-
25. Liston P, Roy N, Tamai 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
Tamai, K.3
-
26
-
-
0028947081
-
Constitutive muscular abnormalities in culture in spinal muscular atrophy
-
26. Braun S, Croizat B, Lagrange M-C, Warter J-M, Poindron P. Constitutive muscular abnormalities in culture in spinal muscular atrophy. Lancet 1995; 345: 694-695.
-
(1995)
Lancet
, vol.345
, pp. 694-695
-
-
Braun, S.1
Croizat, B.2
Lagrange, M.-C.3
Warter, J.-M.4
Poindron, P.5
-
27
-
-
0000220374
-
Infantile muscular atrophy
-
27. Byers R K, Banker B Q. Infantile muscular atrophy. Arch Neurol 1961; 5: 140-164.
-
(1961)
Arch Neurol
, vol.5
, pp. 140-164
-
-
Byers, R.K.1
Banker, B.Q.2
-
28
-
-
0026082099
-
Immuno-cytochemical and ultrastructural studies of Werdnig-Hoffmann disease
-
28. Murayama S, Bouldin TW, Suzuki K. Immuno-cytochemical and ultrastructural studies of Werdnig-Hoffmann disease. Acta Neuropathologica 1991; 81: 408-417.
-
(1991)
Acta Neuropathologica
, vol.81
, pp. 408-417
-
-
Murayama, S.1
Bouldin, T.W.2
Suzuki, K.3
-
29
-
-
0027410516
-
Increase expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease
-
29. Xu Z, Cork L C, Griffin J W, Cleveland D W. Increase expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 1993; 73: 23-33.
-
(1993)
Cell
, vol.73
, pp. 23-33
-
-
Xu, Z.1
Cork, L.C.2
Griffin, J.W.3
Cleveland, D.W.4
-
30
-
-
0027465098
-
Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: A mouse model of amyotrophic lateral sclerosis
-
30. Coté F, Collard J-F, Julien J-P. Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 1993; 73: 35-46.
-
(1993)
Cell
, vol.73
, pp. 35-46
-
-
Coté, F.1
Collard, J.-F.2
Julien, J.-P.3
-
31
-
-
0002487368
-
A research strategy for the resolution of childhood spinal muscular atrophy (SMA)
-
Merlini E, Granata C, Dubowitz V, eds. Wein: Springer-Verlag
-
31. Hausemanova-Petrusewicz I. A research strategy for the resolution of childhood spinal muscular atrophy (SMA). In: Merlini E, Granata C, Dubowitz V, eds. Current concepts in childhood spinal muscular atrophy. Wein: Springer-Verlag, 1989: 21-32.
-
(1989)
Current Concepts in Childhood Spinal Muscular Atrophy
, pp. 21-32
-
-
Hausemanova-Petrusewicz, I.1
-
32
-
-
0001848197
-
The role of nerve-muscle interactions in the pathogenesis of spinal muscular atrophy
-
Merlini E, Granata C, Dubowitz V, eds. Wein: Springer-Verlag
-
32. Vrbová G, Lowrie M B. The role of nerve-muscle interactions in the pathogenesis of spinal muscular atrophy. In: Merlini E, Granata C, Dubowitz V, eds. Current concepts in childhood spinal muscular atrophy. Wein: Springer-Verlag, 1989: 33-40.
-
(1989)
Current Concepts in Childhood Spinal Muscular Atrophy
, pp. 33-40
-
-
Vrbová, G.1
Lowrie, M.B.2
-
33
-
-
0026510912
-
Evolution of muscle specific proteins in Werdnig-Hoffman's disease
-
33. Soussi-Yanicostas N, Ben Hamida C, Bejaoui K, Hentati F, Ben Hamada M, Butler-Browne G S. Evolution of muscle specific proteins in Werdnig-Hoffman's disease. J Neurol Sci 1992; 109:111-120.
-
(1992)
J Neurol Sci
, vol.109
, pp. 111-120
-
-
Soussi-Yanicostas, N.1
Ben Hamida, C.2
Bejaoui, K.3
Hentati, F.4
Ben Hamada, M.5
Butler-Browne, G.S.6
-
34
-
-
0027176512
-
A tool for the molecular analysis of an early lethal disease: Slide PCR in spinal muscular atrophy patients
-
34. Capon F, Melchionda S, Gennarelli M, Dallapiccola B. A tool for the molecular analysis of an early lethal disease: slide PCR in spinal muscular atrophy patients. Mol Cell Probes (England) 1993; 7: 221-226.
-
(1993)
Mol Cell Probes (England)
, vol.7
, pp. 221-226
-
-
Capon, F.1
Melchionda, S.2
Gennarelli, M.3
Dallapiccola, B.4
-
35
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
35. Brzustowicz L M, Lehner T, Castilla L H, 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
-
36
-
-
0025319713
-
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
-
36. 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
-
37
-
-
0025330316
-
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
-
37. Gilliam T C, Brzustowicz L M, Castilla L H, 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
-
38
-
-
0025299356
-
Mapping of acute (type i) spinal muscular atrophy to chromosome 5q12-q14
-
38. Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. Lancet 1990; 326: 271-273.
-
(1990)
Lancet
, vol.326
, pp. 271-273
-
-
Melki, J.1
Sheth, P.2
Abdelhak, S.3
-
39
-
-
0026600680
-
High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5
-
39. Morrison K E, Daniels RJ, Suthers G S, et al. High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5. Am J Hum Genet 1992; 50: 520-527.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 520-527
-
-
Morrison, K.E.1
Daniels, R.J.2
Suthers, G.S.3
-
40
-
-
0026759378
-
Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6
-
40. Brzustowicz L M, Kleyn P W, Boyce F M, 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
-
41
-
-
0027523540
-
Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B
-
41. Soares V M, Brzustowicz L M, Kleyn P W, 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
-
42
-
-
0027538252
-
Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene
-
42. Melki J, Burlet B, Clermont O, et al. Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene. Genomics 1993; 15: 521-524.
-
(1993)
Genomics
, vol.15
, pp. 521-524
-
-
Melki, J.1
Burlet, B.2
Clermont, O.3
-
43
-
-
0027161026
-
A contig of non-chimeric YACs containing the spinal muscular atrophy gene in 5q13
-
43. Francis M J, Morrison K E, Campbell L, et al. A contig of non-chimeric YACs containing the spinal muscular atrophy gene in 5q13. Hum Mol Genet 1993; 2: 1161-1167.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1161-1167
-
-
Francis, M.J.1
Morrison, K.E.2
Campbell, L.3
-
44
-
-
0027254832
-
High resolution physical map of the region surrounding the spinal muscular atrophy gene
-
44. Thompson T G, Morrison K E, Kleyn P, et al. High resolution physical map of the region surrounding the spinal muscular atrophy gene. Hum Mol Genet 1993; 2: 1169-1176.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1169-1176
-
-
Thompson, T.G.1
Morrison, K.E.2
Kleyn, P.3
-
45
-
-
0025858834
-
Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5
-
45. Sheth P, Abdelhak S, Bachelot M F, et al. Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5. Am J Hum Genet 1991; 48: 764-768.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 764-768
-
-
Sheth, P.1
Abdelhak, S.2
Bachelot, M.F.3
-
46
-
-
0027523058
-
Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies
-
46. Wirth B, Voosen B, Röhrig D, et al. Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies. Genomics 1993; 15: 113-118.
-
(1993)
Genomics
, vol.15
, pp. 113-118
-
-
Wirth, B.1
Voosen, B.2
Röhrig, D.3
-
47
-
-
0028345521
-
Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 13 polymorphic loci in the region 5q11.2-13.3
-
47. Wirth B, Pick E, Leutner A, et al. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 13 polymorphic loci in the region 5q11.2-13.3. Genomics 1994; 20: 84-93.
-
(1994)
Genomics
, vol.20
, pp. 84-93
-
-
Wirth, B.1
Pick, E.2
Leutner, A.3
-
48
-
-
0028057856
-
Linkage mapping of the spinal muscular atrophy gene
-
48. Burghes A H M, Ingraham S E, Kóte-Jarai S E, et al. Linkage mapping of the spinal muscular atrophy gene. Hum Genet 1994; 93: 305-312.
-
(1994)
Hum Genet
, vol.93
, pp. 305-312
-
-
Burghes, A.H.M.1
Ingraham, S.E.2
Kóte-Jarai, S.E.3
-
49
-
-
0028302961
-
Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers
-
49. 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
-
50
-
-
0027489642
-
Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy
-
50. Brzustowicz L M, Merette C, Kleyn P W, et al. Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy. Hum Hered 1993; 43: 380-387.
-
(1993)
Hum Hered
, vol.43
, pp. 380-387
-
-
Brzustowicz, L.M.1
Merette, C.2
Kleyn, P.W.3
-
51
-
-
0028264080
-
An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy
-
51. Merette C, Brzustowicz L M, Daniels R J, et al. An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy. Genomics 1994; 21: 27-33.
-
(1994)
Genomics
, vol.21
, pp. 27-33
-
-
Merette, C.1
Brzustowicz, L.M.2
Daniels, R.J.3
-
52
-
-
0030051493
-
T) gene deletions in asymptomatic carriers of spinal muscular atrophy
-
T) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 1995; 5: 359-365.
-
(1995)
Hum Mol Genet
, vol.5
, pp. 359-365
-
-
Wang, C.H.1
Xu, J.2
Carter, T.A.3
-
53
-
-
0028332421
-
A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene
-
53. Burghes A H M, Ingraham S E, 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
-
54
-
-
0027274633
-
Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region
-
54. Kleyn P W, Wang C H, Lien L L, 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
-
55
-
-
0028171819
-
Association between Ag1CA alleles and severity of autosomal recessive proximal spinal muscular atrophy
-
55. DiDonato C J, Morgan K, Carpten J D, et al. Association between Ag1CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet 1994; 55: 1218-1229.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1218-1229
-
-
DiDonato, C.J.1
Morgan, K.2
Carpten, J.D.3
-
56
-
-
0028200804
-
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
-
56. Melki J, Lefebvre S, Burglen L, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1994; 264: 1474-1476.
-
(1994)
Science
, vol.264
, pp. 1474-1476
-
-
Melki, J.1
Lefebvre, S.2
Burglen, L.3
-
57
-
-
0027943435
-
Complex repetitive arrangements of gene sequence in the refined candidate region of the spinal muscular atrophy gene in 5q13
-
57. Theodosiou A M, Morrison K E, Nesbit A M, et al. Complex repetitive arrangements of gene sequence in the refined candidate region of the spinal muscular atrophy gene in 5q13. Am J Hum Genet 1994; 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
-
58
-
-
0028606738
-
A YAC contig of the region containing the spinal muscular atrophy gene (SMA): Identification of an unstable region
-
58. Carpten J D, DiDonato C J, Ingraham S E, et al. A YAC contig of the region containing the spinal muscular atrophy gene (SMA): 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
-
59
-
-
0029024361
-
Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays
-
59. Roy N, McLean M, Besner-Johnston A, et al. Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays. Genomics 1995; 26: 451-460.
-
(1995)
Genomics
, vol.26
, pp. 451-460
-
-
Roy, N.1
McLean, M.2
Besner-Johnston, A.3
-
60
-
-
0028937023
-
Genomic rearrangements in childhood spinal muscular atrophy: Linkage disequilibrium with a null allele
-
60. Daniels R J, Campbell L, Rodrigues N R, et al. Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele. J Med Genet 1995; 32: 93-96.
-
(1995)
J Med Genet
, vol.32
, pp. 93-96
-
-
Daniels, R.J.1
Campbell, L.2
Rodrigues, N.R.3
-
61
-
-
0028797783
-
Identification and characterisation of a spinal muscular atrophy-determining gene
-
61. Lefebvre S, Bürglen 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
Bürglen, L.2
Reboullet, S.3
-
62
-
-
0028896092
-
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
-
62. Roy N, Mahadevan M S, 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
-
63
-
-
0028816258
-
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients
-
63. Thompson T G, DiDonato C J, Simard L, et al. A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nature Genet 1995; 9: 56-62.
-
(1995)
Nature Genet
, vol.9
, pp. 56-62
-
-
Thompson, T.G.1
DiDonato, C.J.2
Simard, L.3
-
64
-
-
0028674996
-
A rearrangement on chromosome 5 of an expressed human b-glucuronidase pseudogene
-
64. Sargent C A, Chalmers I J, Leversha M, Affara N A. A rearrangement on chromosome 5 of an expressed human b-glucuronidase pseudogene. Mamm Genome 1994; 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
-
65
-
-
0029003447
-
Expressed cadherin pseudogenes are localised to the critical region of the spinal muscular atrophy gene
-
65. Selig S, Bruno S, Scharf J M, et al. Expressed cadherin pseudogenes are localised to the critical region of the spinal muscular atrophy gene. Proc Natl Acad Sci USA 1995; 92: 3702-3706.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 3702-3706
-
-
Selig, S.1
Bruno, S.2
Scharf, J.M.3
-
66
-
-
0029074146
-
Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13
-
66. Francis M J, Nesbit M A, Theodosiou A M, et al. Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13. Genomics 1995; 27: 366-369.
-
(1995)
Genomics
, vol.27
, pp. 366-369
-
-
Francis, M.J.1
Nesbit, M.A.2
Theodosiou, A.M.3
-
67
-
-
0028157364
-
Assignment of the human pro-melanin-concentrating hormone gene (PMCH) to chromosome 12q23-q24 and two variant genes (PMCHL1 and PMCHL2) to chromosome 5p14 and 5q12-q13
-
67. Pedeutour F, Szpirer C, Nahon J-L. Assignment of the human pro-melanin-concentrating hormone gene (PMCH) to chromosome 12q23-q24 and two variant genes (PMCHL1 and PMCHL2) to chromosome 5p14 and 5q12-q13. Genomics 1994; 19: 31-37.
-
(1994)
Genomics
, vol.19
, pp. 31-37
-
-
Pedeutour, F.1
Szpirer, C.2
Nahon, J.-L.3
-
68
-
-
0028905919
-
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
-
68. Rodrigues N R, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies K E. 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
Owen, N.2
Talbot, K.3
Ignatius, J.4
Dubowitz, V.5
Davies, K.E.6
-
69
-
-
0029117950
-
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: Association of marker genotype with disease severity and CDNAs
-
69. 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
-
71
-
-
0030020799
-
Gene deletions in spinal muscular atrophy
-
71. Rodrigues N R, Owen N, Talbot K, et al Gene deletions in spinal muscular atrophy. J Med Genet 1996; 33: 93-96.
-
(1996)
J Med Genet
, vol.33
, pp. 93-96
-
-
Rodrigues, N.R.1
Owen, N.2
Talbot, K.3
-
72
-
-
0028842926
-
A frame-shift deletion in the survival motor neuron gene in spanish spinal muscular atrophy patients
-
72. Bussaglia E, Clermont O, Tizzano E, et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genet 1995; 11: 335-337.
-
(1995)
Nature Genet
, vol.11
, pp. 335-337
-
-
Bussaglia, E.1
Clermont, O.2
Tizzano, E.3
-
73
-
-
0028922174
-
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
-
73. van der Steege G, Grootscholten P M, van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995; 345: 985-986.
-
(1995)
Lancet
, vol.345
, pp. 985-986
-
-
Van Der Steege, G.1
Grootscholten, P.M.2
Van Der Vlies, P.3
-
74
-
-
0029143853
-
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
-
74. Cobben J M, 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
-
75
-
-
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
-
75. Hahnen E, Forkert R, Marke 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
-
-
Hahnen, E.1
Forkert, R.2
Marke, C.3
-
76
-
-
0029147787
-
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients
-
76. Gennarelli M, Lucarelli M, Capon F, et al. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun 1995; 213: 342-348.
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 342-348
-
-
Gennarelli, M.1
Lucarelli, M.2
Capon, F.3
-
77
-
-
0027537461
-
An apoptosis-inhibiting baculovirus gene with a zinc finger-like motif
-
77. Crook N E, Clem R J, Millar L K. An apoptosis-inhibiting baculovirus gene with a zinc finger-like motif. J Virol 1993; 67: 2168-2174.
-
(1993)
J Virol
, vol.67
, pp. 2168-2174
-
-
Crook, N.E.1
Clem, R.J.2
Millar, L.K.3
-
78
-
-
0028274132
-
An apoptosis-inhibiting gene from a nuclear polyhedrosis virus encoding a polypeptide with Cys-His sequence motifs
-
78. Birnbaum M J, Clem R J, Miller L K. An apoptosis-inhibiting gene from a nuclear polyhedrosis virus encoding a polypeptide with Cys-His sequence motifs. J Virol 1994; 68: 2521-2528.
-
(1994)
J Virol
, vol.68
, pp. 2521-2528
-
-
Birnbaum, M.J.1
Clem, R.J.2
Miller, L.K.3
-
79
-
-
0026058318
-
Cell death during development of the nervous system
-
79. Oppenheim RW. Cell death during development of the nervous system. Ann Rev Neurosci 1991; 14: 453-510.
-
(1991)
Ann Rev Neurosci
, vol.14
, pp. 453-510
-
-
Oppenheim, R.W.1
-
80
-
-
0028812154
-
Genes for SMA: Multum in parvo
-
80. Lewin B. Genes for SMA: multum in parvo. Cell 1995; 80: 1-5.
-
(1995)
Cell
, vol.80
, pp. 1-5
-
-
Lewin, B.1
-
81
-
-
0028978717
-
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
-
81. 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 1995; 346: 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
-
83
-
-
0029618687
-
SMN deletions in adult-onset spinal muscular atrophy
-
83. Clermont O, Burlet, Lefebvre S, Bürglen L, Munnich A, Melki J. SMN deletions in adult-onset spinal muscular atrophy. Lancet 1995; 346: 1712-1713.
-
(1995)
Lancet
, vol.346
, pp. 1712-1713
-
-
Clermont, O.1
Burlet2
Lefebvre, S.3
Bürglen, L.4
Munnich, A.5
Melki, J.6
-
84
-
-
0029113456
-
SMN gene deletion in variant of infantile spinal muscular atrophy
-
84. Bürglen L, Spiegel R, Ignatius J, Cobben J M, et al. SMN gene deletion in variant of infantile spinal muscular atrophy. Lancet 1995; 346: 316-317.
-
(1995)
Lancet
, vol.346
, pp. 316-317
-
-
Bürglen, L.1
Spiegel, R.2
Ignatius, J.3
Cobben, J.M.4
-
85
-
-
0026023481
-
No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers
-
85. Kausch K, Muller CR, Grimm T, et al. No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers. Hum Genet 1991; 86: 317-318.
-
(1991)
Hum Genet
, vol.86
, pp. 317-318
-
-
Kausch, K.1
Muller, C.R.2
Grimm, T.3
-
86
-
-
0029943383
-
Analysis of chromosome 5q13 genes in ALS: Homozygous NAIP deletion in a sporadic case
-
86. Jackson M, Morrison K E, Al Chalabi A, et al. Analysis of chromosome 5q13 genes in ALS: homozygous NAIP deletion in a sporadic case. Ann Neurol 1996; 39: 796-800.
-
(1996)
Ann Neurol
, vol.39
, pp. 796-800
-
-
Jackson, M.1
Morrison, K.E.2
Al Chalabi, A.3
-
87
-
-
0026655942
-
Intrafamilial heterogeneity in hereditary motor neuron disease
-
87. Appelbaum J S, Roos R P, Salazar-Grueso E F, et al. Intrafamilial heterogeneity in hereditary motor neuron disease. Neurology 1992; 42: 1488-1492.
-
(1992)
Neurology
, vol.42
, pp. 1488-1492
-
-
Appelbaum, J.S.1
Roos, R.P.2
Salazar-Grueso, E.F.3
-
88
-
-
0027245689
-
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family
-
88. Camu W, Billiard M. Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. Muscle Nerve 1993; 16: 569-570.
-
(1993)
Muscle Nerve
, vol.16
, pp. 569-570
-
-
Camu, W.1
Billiard, M.2
-
89
-
-
0028888965
-
De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy
-
89. Capon F, Cicerro S L, Levato C, Novelli G, Dallapiccola B. De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy. Prenat Diagn 1995; 15: 93-94.
-
(1995)
Prenat Diagn
, vol.15
, pp. 93-94
-
-
Capon, F.1
Cicerro, S.L.2
Levato, C.3
Novelli, G.4
Dallapiccola, B.5
|