AAAAAA
Results:
1-13
|
Results: 13
Authors:
Scheffer, H
Cobben, JM
Matthijs, G
Wirth, B
Citation: H. Scheffer et al., Best practice guidelines for molecular analysis in spinal muscular atrophy, EUR J HUM G, 9(7), 2001, pp. 484-491
Authors:
Jablonka, S
Bandilla, M
Wiese, S
Buhler, D
Wirth, B
Sendtner, M
Fischer, U
Citation: S. Jablonka et al., Co-regulation of survival of motor neuron (SMN) protein and its interactorSIP1 during development and in spinal muscular atrophy, HUM MOL GEN, 10(5), 2001, pp. 497-505
Authors:
Wirth, B
Citation: B. Wirth, An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA), HUM MUTAT, 15(3), 2000, pp. 228-237
Authors:
Helmken, C
Wetter, A
Rudnik-Schoneborn, S
Liehr, T
Zerres, K
Wirth, B
Citation: C. Helmken et al., An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA), EUR J HUM G, 8(7), 2000, pp. 493-499
Authors:
Kelter, AR
Herchenbach, J
Wirth, B
Citation: Ar. Kelter et al., The transcription factor-like nuclear regulator (TFNR) contains a novel 55-amino-acid motif repeated nine times and maps closely to SMN1, GENOMICS, 70(3), 2000, pp. 315-326
Authors:
Helmken, C
Wirth, B
Citation: C. Helmken et B. Wirth, Exclusion of Htra2-beta 1, an up-regulator of full-length SMN2 transcript,as a modifying gene for spinal muscular atrophy, HUM GENET, 107(6), 2000, pp. 554-558
Authors:
Hofmann, Y
Lorson, CL
Stamm, S
Androphy, EJ
Wirth, B
Citation: Y. Hofmann et al., Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2), P NAS US, 97(17), 2000, pp. 9618-9623
Authors:
Zat'kova, A
Hahnen, E
Wirth, B
Kadasi, L
Citation: A. Zat'Kova et al., Analysis of the SMN and NAIP genes in Slovak spinal muscular atrophy patients, HUMAN HERED, 50(3), 2000, pp. 171-174
Authors:
Endrizzi, M
Huang, S
Scharf, JM
Kelter, AR
Wirth, B
Kunkel, LM
Miller, W
Dietrich, WF
Citation: M. Endrizzi et al., Comparative sequence analysis of the mouse and human Lgn1/SMA interval, GENOMICS, 60(2), 1999, pp. 137-151
Authors:
von Deimling, F
Scharf, JM
Liehr, T
Rothe, M
Kelter, AR
Albers, P
Dietrich, WF
Kunkel, LOM
Wernert, N
Wirth, B
Citation: F. Von Deimling et al., Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma, HUM GENET, 105(1-2), 1999, pp. 17-27
Authors:
Lorson, CL
Hahnen, E
Androphy, EJ
Wirth, B
Citation: Cl. Lorson et al., A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy, P NAS US, 96(11), 1999, pp. 6307-6311
Authors:
Grohmann, K
Wienker, TF
Saar, K
Rudnik-Schoneborn, S
Stoltenburg-Didinger, G
Rossi, R
Novelli, G
Nurnberg, G
Pfeufer, A
Wirth, B
Reis, A
Zerres, K
Hubner, C
Citation: K. Grohmann et al., Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21, AM J HU GEN, 65(5), 1999, pp. 1459-1462
Authors:
Wirth, B
Herz, M
Wetter, A
Moskau, S
Hahnen, E
Rudnik-Schoneborn, S
Wienker, T
Zerres, K
Citation: B. Wirth et al., Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling, AM J HU GEN, 64(5), 1999, pp. 1340-1356
Risultati:
1-13
|