au.\*:("BURGHES, A. H. M")
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High resolution two-dimensional polyacrylamide gel electrophoresisDUNN, M. J; BURGHES, A. H. M.TrAC. Trends in analytical chemistry (Regular ed.). 1983, Vol 2, Num 9, pp 211-214, issn 0165-9936Article
Expression of the survival of motor neuron (SMN) gene in primary neurons and increase in SMN levels by activation of the N-methyl-D-aspartate glutamate receptorANDREASSI, Catia; PATRIZI, Anna Letizia; MONANI, Umrao R et al.Neurogenetics (Oxford. Print). 2002, Vol 4, Num 1, pp 29-36, issn 1364-6745Article
DAX1 mutations map to putative structural domains in a deduced three-dimensional modelZHANG, Y.-H; WEIWEN GUO; CHUDLEY, A. E et al.American journal of human genetics. 1998, Vol 62, Num 4, pp 855-864, issn 0002-9297Article
Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletionPRIOR, T. W; BARTOLO, C; PAPP, A. C et al.Neurology. 1997, Vol 48, Num 2, pp 486-488, issn 0028-3878Article
Association between AgI-CA alleles and severity of autosomal recessive proximal spinal muscular atrophyDIDONATO, C. J; MORGAN, K; WASMUTH, J. J et al.American journal of human genetics. 1994, Vol 55, Num 6, pp 1218-1229, issn 0002-9297Article
Evidence for mutation by unequal sister chromatid exchange in the duchenne muscular dystrophy geneXIUYUAN HU; BURGHES, A. H. M; BULMAN, D. E et al.American journal of human genetics. 1989, Vol 44, Num 6, pp 855-863, issn 0002-9297Article
Gene delivery to spinal motor neuronsZARIFE SAHENK; JEGATHEESAN SEHARASEYON; MENDELL, J. R et al.Brain research. 1993, Vol 606, Num 1, pp 126-129, issn 0006-8993Article
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophyMONANI, U. R; SENDTNER, M; MORRIS, G. E et al.Human molecular genetics (Print). 2000, Vol 9, Num 3, pp 333-339, issn 0964-6906Article
SMN oligomerization defect correlates with spinal muscular atrophy severityLORSON, C. L; STRASSWIMMER, J; YAO, J.-M et al.Nature genetics. 1998, Vol 19, Num 1, pp 63-66, issn 1061-4036Article
A multicopy dinucleotide marker that maps close to the spinal muscular atrophy geneBURGHES, A. H. M; INGRAHAM, S. E; WIRTH, B et al.Genomics (San Diego, Calif.). 1994, Vol 21, Num 2, pp 394-402, issn 0888-7543Article
Linkage mapping of the spinal muscular atrophy geneBURGHES, A. H. M; INGRAHAM, S. E; MOXLEY, R. T et al.Human genetics. 1994, Vol 93, Num 3, pp 305-312, issn 0340-6717Article
Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresisMUSARELLA, M. A; ANSON-CARTWRIGHT, C. L; MCDOWELL, C et al.Genomics (San Diego, Calif.). 1991, Vol 11, Num 2, pp 263-272, issn 0888-7543Article
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) geneGILLARD, E. F; CHAMBERLAIN, J. S; KLAMUT, H. J et al.American journal of human genetics. 1989, Vol 45, Num 4, pp 507-520, issn 0002-9297Article
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophyMALHOTRA, S. B; HART, K. A; WORTON, R. G et al.Science (Washington, D.C.). 1988, Vol 242, Num 4879, pp 755-759, issn 0036-8075Article
Intragenic telSMN mutations : Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy numberPARSONS, D. W; MCANDREW, P. E; IANNACCONE, S. T et al.American journal of human genetics. 1998, Vol 63, Num 6, pp 1712-1723, issn 0002-9297Article
Deletion and conversion in spinal muscular atrophy patients : Is there a relationship to severity ?DIDONATO, C. J; INGRAHAM, S. E; MENDELL, J. R et al.Annals of neurology. 1997, Vol 41, Num 2, pp 230-237, issn 0364-5134Article
The survival motor neuron protein in spinal muscular atrophyCOOVERT, D. D; LE, T. T; MCANDREW, P. E et al.Human molecular genetics (Print). 1997, Vol 6, Num 8, pp 1205-1214, issn 0964-6906Article
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 genePARSONS, D. W; MCANDREW, P. E; MONANI, U. R et al.Human molecular genetics (Print). 1996, Vol 5, Num 11, pp 1727-1732, issn 0964-6906Article
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy : mechanisms of dystrophin productionWINNARD, A. V; MENDELL, J. R; PRIOR, T. W et al.American journal of human genetics. 1995, Vol 56, Num 1, pp 158-166, issn 0002-9297Article
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophyWINNARD, A. V; KLEIN, C. J; MOXLEY, R. T et al.Human molecular genetics (Print). 1993, Vol 2, Num 6, pp 737-744, issn 0964-6906Article
Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophyBURROW, K. L; COOVERT, D. D; KLEIN, C. J et al.Neurology. 1991, Vol 41, Num 5, pp 661-666, issn 0028-3878, 6 p.Article
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy numberMCANDREW, P. E; PARSONS, D. W; SIMARD, L. R et al.American journal of human genetics. 1997, Vol 60, Num 6, pp 1411-1422, issn 0002-9297Article
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patientsTHOMPSON, T. G; DIDONATO, C. J; SIMARD, L. R et al.Nature genetics. 1995, Vol 9, Num 1, pp 56-62, issn 1061-4036Article
Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with Huge in-frame deletions in the NH2-terminal and rod domains of dystrophinMATSUMURA, K; BURGHES, A. H. M; FARDEAU, M et al.The Journal of clinical investigation. 1994, Vol 93, Num 1, pp 99-105, issn 0021-9738Article
Two 5q13 simple tandem repeat loci are in linkage disequilibrium with Type 1 spinal muscular atrophyMCLEAN, M. D; ROY, N; MACKENZIE, A. E et al.Human molecular genetics (Print). 1994, Vol 3, Num 11, pp 1951-1956, issn 0964-6906Article
