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Results: 1-15 |
Results: 15
The exon 2b region of the spinal muscular atophy protein, SMN, is involvedin self-association and SIP1 binding (vol 9, pg 2869, 2000)
Authors: Young, PJ Man, NT Lorson, CL Le, TT Androphy, EJ Burghes, AHM Morris, GE
Citation: Pj. Young et al., The exon 2b region of the spinal muscular atophy protein, SMN, is involvedin self-association and SIP1 binding (vol 9, pg 2869, 2000), HUM MOL GEN, 10(1), 2001, pp. 88-88
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome
Authors: Mailman, MD Hemingway, T Darsey, RL Glasure, CE Huang, Y Chadwick, RB Heinz, JW Papp, AC Snyder, PJ Sedra, MS Schafer, RW Abuelo, DN Reich, EW Theil, KS Burghes, AHM de la Chapelle, A Prior, TW
Citation: Md. Mailman et al., Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome, HUM GENET, 108(2), 2001, pp. 109-115
Genetics - The land between Mendelian and multifactorial inheritance
Authors: Burghes, AHM Vaessin, HEF de la Chapelle, A
Citation: Ahm. Burghes et al., Genetics - The land between Mendelian and multifactorial inheritance, SCIENCE, 293(5538), 2001, pp. 2213-2214
Nuclear gems and cajal (coiled) bodies in fetal tissues: Nucleolar distribution of the spinal muscular atrophy protein, SMN
Authors: Young, PJ Le, TT Dunckley, M Man, NT Burghes, AHM Morris, GE
Citation: Pj. Young et al., Nuclear gems and cajal (coiled) bodies in fetal tissues: Nucleolar distribution of the spinal muscular atrophy protein, SMN, EXP CELL RE, 265(2), 2001, pp. 252-261
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
Authors: Monani, UR Sendtner, M Coovert, DD Parsons, DW Andreassi, C Le, TT Jablonka, S Schrank, B Rossol, W Prior, TW Morris, GE Burghes, AHM
Citation: Ur. Monani et al., The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy, HUM MOL GEN, 9(3), 2000, pp. 333-339
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding
Authors: Young, PJ Man, NT Lorson, CL Le, TT Androphy, EJ Burghes, AHM Morris, GE
Citation: Pj. Young et al., The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding, HUM MOL GEN, 9(19), 2000, pp. 2869-2877
Animal models of spinal muscular atrophy
Authors: Monani, UR Coovert, DD Burghes, AHM
Citation: Ur. Monani et al., Animal models of spinal muscular atrophy, HUM MOL GEN, 9(16), 2000, pp. 2451-2457
Does the survival motor neuron protein (SMN) interact with Bcl-2?
Authors: Coovert, DD Le, TT Morris, GE Man, NT Kralewski, M Sendtners, M Burghes, AHM
Citation: Dd. Coovert et al., Does the survival motor neuron protein (SMN) interact with Bcl-2?, J MED GENET, 37(7), 2000, pp. 536-539
The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells
Authors: Young, PJ Le, TT Man, NT Burghes, AHM Morris, GE
Citation: Pj. Young et al., The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells, EXP CELL RE, 256(2), 2000, pp. 365-374
Analysis of mutations in the tudor domain of the survival motor neuron protein SMN
Authors: Mohaghegh, P Rodrigues, NR Owen, N Ponting, CP Le, TT Burghes, AHM Davies, KE
Citation: P. Mohaghegh et al., Analysis of mutations in the tudor domain of the survival motor neuron protein SMN, EUR J HUM G, 7(5), 1999, pp. 519-525
A single nucleotide difference that alters splicing patterns distinguishesthe SMA gene SMN1 from the copy gene SMN2
Authors: Monani, UR Lorson, CL Parsons, DW Prior, TW Androphy, EJ Burghes, AHM McPherson, JD
Citation: Ur. Monani et al., A single nucleotide difference that alters splicing patterns distinguishesthe SMA gene SMN1 from the copy gene SMN2, HUM MOL GEN, 8(7), 1999, pp. 1177-1183
Identification of survival motor neuron as a transcriptional activator-binding protein
Authors: Strasswimmer, J Lorson, CL Breiding, DE Chen, JJ Le, T Burghes, AHM Androphy, EJ
Citation: J. Strasswimmer et al., Identification of survival motor neuron as a transcriptional activator-binding protein, HUM MOL GEN, 8(7), 1999, pp. 1219-1226
Genomic organization and biological characterization of the novel human CCchemokine DC-CK-1/PARC/MIP-4/SCYA18
Authors: Guan, P Burghes, AHM Cunningham, A Lira, P Brissette, WH Neote, K McColl, SR
Citation: P. Guan et al., Genomic organization and biological characterization of the novel human CCchemokine DC-CK-1/PARC/MIP-4/SCYA18, GENOMICS, 56(3), 1999, pp. 296-302
Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT)
Authors: Monani, UR McPerson, JD Burghes, AHM
Citation: Ur. Monani et al., Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT), BBA-GENE ST, 1445(3), 1999, pp. 330-336
Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number
Authors: Parsons, DW McAndrew, PE Iannaccone, ST Mendell, JR Burghes, AHM Prior, TW
Citation: Dw. Parsons et al., Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number, AM J HU GEN, 63(6), 1998, pp. 1712-1723
Risultati: 1-15 |