-
1
-
-
0038019720
-
Spinal muscular atrophies
-
In: Emery AH, Rimoin DL, editors Royal Free Hospital, London: Churchill Livingstone
-
Pearn J. Spinal muscular atrophies. In: Emery AH, Rimoin DL, editors. Principles and practice of medical genetics, 2nd ed. Royal Free Hospital, London: Churchill Livingstone, 1990:565-578.
-
(1990)
Principles and Practice of Medical Genetics, 2nd Ed.
, pp. 565-578
-
-
Pearn, J.1
-
2
-
-
0000220374
-
Infantile muscular atrophy
-
Byers R.K., Banker B.Q. Infantile muscular atrophy. Arch Neurol. 5:1961;140-164.
-
(1961)
Arch Neurol
, vol.5
, pp. 140-164
-
-
Byers, R.K.1
Banker, B.Q.2
-
3
-
-
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
-
4
-
-
0018238065
-
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
-
Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet. 15:1998;409-413.
-
(1998)
J Med Genet
, vol.15
, pp. 409-413
-
-
Pearn, J.1
-
5
-
-
0026271910
-
Chaos in classification of the spinal muscular atrophies of childhood
-
Dubowitz V. Chaos in classification of the spinal muscular atrophies of childhood. Neuromusc Disord. 1:1991;77-80.
-
(1991)
Neuromusc Disord
, vol.1
, pp. 77-80
-
-
Dubowitz, V.1
-
6
-
-
0025299356
-
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators
-
Melki J., Sheth P., Abdelhak S., Burlet P., Bachelot M.F., Lathrop M.G.et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet. 336:1990;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
-
7
-
-
0028345521
-
Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3
-
Wirth B., Pick E., Leutner A., Dadze A., Voosen B., Knapp M.et al. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3. Genomics. 20:1994;84-93.
-
(1994)
Genomics
, vol.20
, pp. 84-93
-
-
Wirth, B.1
Pick, E.2
Leutner, A.3
Dadze, A.4
Voosen, B.5
Knapp, M.6
-
8
-
-
0027523058
-
Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies
-
Wirth B., Voosen B., Röhrig D., Knapp M., Piechaczek B., Rudnik-Schöneborn S.et al. Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies. Genomics. 15:1993;113-118.
-
(1993)
Genomics
, vol.15
, pp. 113-118
-
-
Wirth, B.1
Voosen, B.2
Röhrig, D.3
Knapp, M.4
Piechaczek, B.5
Rudnik-Schöneborn, S.6
-
9
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy determining gene
-
Lefebvre S., Bürglen L., Reboullet S., Clermont O., Burlet P., Viollet L.et al. 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
-
10
-
-
0343267780
-
Structure and organization of the human survival motor neurone (SMN) gene
-
Bürglen L., Lefebvre S., Clermont O., Burlet P., Viollet L., Craud C.et al. Structure and organization of the human survival motor neurone (SMN) gene. Genomics. 32:1996;479-482.
-
(1996)
Genomics
, vol.32
, pp. 479-482
-
-
Bürglen, L.1
Lefebvre, S.2
Clermont, O.3
Burlet, P.4
Viollet, L.5
Craud, C.6
-
11
-
-
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.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. 4:1995;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
-
12
-
-
0031059705
-
Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
-
DiDonato C.J., Ingraham S.E., Mendel J.R., Prior T.W., Lenard S., Moxley R.T.et al. Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity? Ann Neurol. 41:1997;230-237.
-
(1997)
Ann Neurol
, vol.41
, pp. 230-237
-
-
Didonato, C.J.1
Ingraham, S.E.2
Mendel, J.R.3
Prior, T.W.4
Lenard, S.5
Moxley, R.T.6
-
13
-
-
0029808967
-
Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients
-
Erdem H., Pehlivan S., Topaloglu H., Yalnýzoglu D., Akcören Z. Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients. J Inher Metab Dis. 19:1996;724-728.
-
(1996)
J Inher Metab Dis
, vol.19
, pp. 724-728
-
-
Erdem, H.1
Pehlivan, S.2
Topaloglu, H.3
Yalnýzoglu, D.4
Akcören, Z.5
-
14
-
-
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.et al. 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
-
15
-
-
0030482259
-
Advances in SMA research: Review of gene deletions
-
Morrison K.E. Advances in SMA research: review of gene deletions. Neuromusc Disord. 6:1996;397-408.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 397-408
-
-
Morrison, K.E.1
-
16
-
-
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.et al. 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. 60:1997;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
-
17
-
-
0031048846
-
Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH
-
Marinoni J.C., Roy R., Vermeulen W., Miniou P., Lutz Y., Weeda G.et al. Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH. EMBO J. 16:1997;1093-1102.
-
(1997)
EMBO J
, vol.16
, pp. 1093-1102
-
-
Marinoni, J.C.1
Roy, R.2
Vermeulen, W.3
Miniou, P.4
Lutz, Y.5
Weeda, G.6
-
18
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S.A., Pykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Pykes, D.D.2
Polesky, H.F.3
-
19
-
-
0028922174
-
PCR-based DNA 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., Osinge J., Cobben J.M.et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet. 345:1995;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
Osinge, J.5
Cobben, J.M.6
-
20
-
-
0028863567
-
Molecular basis of spinal muscular atrophy in Chinese
-
Chang J.G., Jong Y.J., Huang J.M., Wang W.S., Yang T.Y., Chang C.P.et al. Molecular basis of spinal muscular atrophy in Chinese. Am J Hum Genet. 57:1995;1503-1505.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1503-1505
-
-
Chang, J.G.1
Jong, Y.J.2
Huang, J.M.3
Wang, W.S.4
Yang, T.Y.5
Chang, C.P.6
-
21
-
-
0029853107
-
Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy
-
Samilchuk E., D'Souza B., Bastaki L., Al-Awadi S. Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy. Hum Genet. 98:1996;524-527.
-
(1996)
Hum Genet
, vol.98
, pp. 524-527
-
-
Samilchuk, E.1
D'Souza, B.2
Bastaki, L.3
Al-Awadi, S.4
-
22
-
-
0030987818
-
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)
-
Hahnen E., Schöning J., Rudnik-Schöneborn S., Raschke H., Zerres K., Wirth B. Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet. 6:1997;821-825.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 821-825
-
-
Hahnen, E.1
Schöning, J.2
Rudnik-Schöneborn, S.3
Raschke, H.4
Zerres, K.5
Wirth, B.6
-
23
-
-
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.et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet. 11:1995;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
-
24
-
-
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 D.W., McAndrew P.E., Monani U.R., Mendell J.R., Burghes A.H.M., Prior T.W. 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. 5:1996;1727-1732.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1727-1732
-
-
Parsons, D.W.1
McAndrew, P.E.2
Monani, U.R.3
Mendell, J.R.4
Burghes, A.H.M.5
Prior, T.W.6
-
25
-
-
0030020799
-
Gene deletions in spinal muscular atrophy
-
Rodrigues N.R., Owen N., Talbot K., Patel S., Muntoni F., Ignatius J.et al. 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
-
26
-
-
0030976172
-
Spinal muscular atrophy-clinical and genetic correlations
-
Zerres K., Wirth B., Rudnik-Schöneborn S. Spinal muscular atrophy-clinical and genetic correlations. Neuromusc Disord. 7:1997;202-207.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 202-207
-
-
Zerres, K.1
Wirth, B.2
Rudnik-Schöneborn, S.3
-
27
-
-
0030007199
-
From enigmatic to problematic: The new molecular genetics of childhood spinal muscular atrophy
-
Crawford T.O. From enigmatic to problematic: the new molecular genetics of childhood spinal muscular atrophy. Neurology. 46:1996;335-340.
-
(1996)
Neurology
, vol.46
, pp. 335-340
-
-
Crawford, T.O.1
-
28
-
-
0030860637
-
Spinal muscular atrophy of childhood: Genetics
-
Raymond F.L. Spinal muscular atrophy of childhood: genetics. Dev Med Child Neurol. 39:1997;419-420.
-
(1997)
Dev Med Child Neurol
, vol.39
, pp. 419-420
-
-
Raymond, F.L.1
-
29
-
-
0030776040
-
Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system
-
Battaglia G., Princivalle A., Fortl F., Lizier C., Zeviani M. Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet. 6:1997;1961-1971.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1961-1971
-
-
Battaglia, G.1
Princivalle, A.2
Fortl, F.3
Lizier, C.4
Zeviani, M.5
-
30
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
Coovert D.D., Le T.T., McAndrew P.E., Strasswimmer J., Crawford T.O., Mendell J.R.et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet. 6:1997;1205-1214.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1205-1214
-
-
Coovert, D.D.1
Le, T.T.2
McAndrew, P.E.3
Strasswimmer, J.4
Crawford, T.O.5
Mendell, J.R.6
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