-
1
-
-
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 15 (2000) 228-237
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
2
-
-
24944513472
-
Spinal muscular atrophies
-
Engel A.G., and Franzini-Armstrong C. (Eds), McGraw-Hill, New York
-
Rudnik-Schöeneborn S., de Visser M., and Zerres K. Spinal muscular atrophies. In: Engel A.G., and Franzini-Armstrong C. (Eds). Myology, basic and clinical. 3rd edition II (2004), McGraw-Hill, New York 1845-1864
-
(2004)
Myology, basic and clinical. 3rd edition
, vol.II
, pp. 1845-1864
-
-
Rudnik-Schöeneborn, S.1
de Visser, M.2
Zerres, K.3
-
3
-
-
0015991082
-
Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease
-
Mellins R.B., Hays A.P., Gold A.P., et al. Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics 53 (1974) 33-40
-
(1974)
Pediatrics
, vol.53
, pp. 33-40
-
-
Mellins, R.B.1
Hays, A.P.2
Gold, A.P.3
-
4
-
-
0033358195
-
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21
-
Grohmann K., Wienker T.F., Saar K., et al. Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21. Am J Hum Genet 65 (1999) 1459-1462
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1459-1462
-
-
Grohmann, K.1
Wienker, T.F.2
Saar, K.3
-
5
-
-
17944374029
-
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
-
Grohmann K., Schuelke M., Diers A., et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 29 (2001) 75-77
-
(2001)
Nat Genet
, vol.29
, pp. 75-77
-
-
Grohmann, K.1
Schuelke, M.2
Diers, A.3
-
6
-
-
4043166252
-
Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Appleton R.E., Hübner C., Grohmann K., et al. Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1). Dev Med Child Neurol 46 (2004) 576
-
(2004)
Dev Med Child Neurol
, vol.46
, pp. 576
-
-
Appleton, R.E.1
Hübner, C.2
Grohmann, K.3
-
7
-
-
33750208771
-
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1
-
Giannini A., Pinto A.M., Rossetti G., et al. Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. Intensive Care Med 32 (2006) 1851-1855
-
(2006)
Intensive Care Med
, vol.32
, pp. 1851-1855
-
-
Giannini, A.1
Pinto, A.M.2
Rossetti, G.3
-
8
-
-
10744222932
-
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Grohmann K., Varon R., Stolz P., et al. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol 54 (2003) 719-724
-
(2003)
Ann Neurol
, vol.54
, pp. 719-724
-
-
Grohmann, K.1
Varon, R.2
Stolz, P.3
-
9
-
-
4544341168
-
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1
-
Guenther U.P., Schuelke M., Bertini E., et al. Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. Hum Genet 115 (2004) 319-326
-
(2004)
Hum Genet
, vol.115
, pp. 319-326
-
-
Guenther, U.P.1
Schuelke, M.2
Bertini, E.3
-
10
-
-
4444378252
-
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus
-
Maystadt I., Zarhrate M., Landrieu P., et al. Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. Hum Mutat 23 (2004) 525-526
-
(2004)
Hum Mutat
, vol.23
, pp. 525-526
-
-
Maystadt, I.1
Zarhrate, M.2
Landrieu, P.3
-
11
-
-
0345306176
-
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1
-
Pitt M., Houlden H., Jacobs J., et al. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 126 (2003) 2682-2692
-
(2003)
Brain
, vol.126
, pp. 2682-2692
-
-
Pitt, M.1
Houlden, H.2
Jacobs, J.3
-
12
-
-
3242686107
-
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Rudnik-Schöeneborn S., Stolz P., Varon R., et al. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Neuropediatrics 35 (2004) 174-182
-
(2004)
Neuropediatrics
, vol.35
, pp. 174-182
-
-
Rudnik-Schöeneborn, S.1
Stolz, P.2
Varon, R.3
-
13
-
-
33744789163
-
Mutation of gene in spinal muscular atrophy respiratory distress type I
-
Wong V.C., Chung B.H., Li S., et al. Mutation of gene in spinal muscular atrophy respiratory distress type I. Pediatr Neurol 34 (2006) 474-477
-
(2006)
Pediatr Neurol
, vol.34
, pp. 474-477
-
-
Wong, V.C.1
Chung, B.H.2
Li, S.3
-
14
-
-
33847146380
-
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus
-
Hartley L., Kinali M., Knight R., et al. A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. Neuromuscul Disord 17 (2007) 174-179
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 174-179
-
-
Hartley, L.1
Kinali, M.2
Knight, R.3
-
15
-
-
34548022629
-
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis
-
Guenther U.P., Varon R., Schlicke M., et al. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum Mutat 28 (2007) 808-815
-
(2007)
Hum Mutat
, vol.28
, pp. 808-815
-
-
Guenther, U.P.1
Varon, R.2
Schlicke, M.3
-
16
-
-
53649108073
-
-
Eichholz S, Kretzschmar B, Tegtmeyer FK. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) - clinical history and rehabilitation of two 24-hours-home-ventilated children. Neuropediatrics 2004;35:82-3. (abstract).
-
Eichholz S, Kretzschmar B, Tegtmeyer FK. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) - clinical history and rehabilitation of two 24-hours-home-ventilated children. Neuropediatrics 2004;35:82-3. (abstract).
-
-
-
-
17
-
-
0029257498
-
Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration
-
Cook S.A., Johnson K.R., Bronson R.T., et al. Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration. Mamm Genome 6 (1995) 187-191
-
(1995)
Mamm Genome
, vol.6
, pp. 187-191
-
-
Cook, S.A.1
Johnson, K.R.2
Bronson, R.T.3
-
18
-
-
27744438585
-
Dilated cardiomyopathy in the nmd mouse: transgenic rescue an QTLs that improve cardiac function and survival
-
Maddatu T.P., Garvey S.M., Schroeder D.G., et al. Dilated cardiomyopathy in the nmd mouse: transgenic rescue an QTLs that improve cardiac function and survival. Hum Mol Genet 14 (2005) 3179-3189
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3179-3189
-
-
Maddatu, T.P.1
Garvey, S.M.2
Schroeder, D.G.3
-
19
-
-
0030860931
-
Association of the mammalian helicase MAH with the pre-mRNA splicing complex
-
Molnar G.M., Crozat A., Kraeft S.K., et al. Association of the mammalian helicase MAH with the pre-mRNA splicing complex. Proc Natl Acad Sci USA 94 (1997) 7831-7836
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 7831-7836
-
-
Molnar, G.M.1
Crozat, A.2
Kraeft, S.K.3
-
20
-
-
26444442446
-
The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Diers A., Kaczinski M., Grohmann K., et al. The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1). Acta Neuropathol 110 (2005) 289-297
-
(2005)
Acta Neuropathol
, vol.110
, pp. 289-297
-
-
Diers, A.1
Kaczinski, M.2
Grohmann, K.3
-
21
-
-
5744242172
-
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Grohmann K., Rossoll W., Kobsar I., et al. Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum Mol Genet 13 (2004) 2031-2042
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2031-2042
-
-
Grohmann, K.1
Rossoll, W.2
Kobsar, I.3
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