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Arthur Burghes
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22
Prior, Thomas
18
Mendell, Jerry
14
Monani, Umrao
12
Le, Thanh
11
Coovert, Daniel
11
Papp, Audrey
9
Morris, Glenn
9
Ray, Peter
8
McAndrew, PE
8
Butchbach, Matthew
7
Androphy, Elliot
7
Lorson, Christian
6
DiDonato, CJ
6
PARSONS, DONALD
5
Simard, Louise
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All Publications
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2009: Prior Thomas W; Krainer Adrian R; Hua Yimin; Swoboda Kathryn J; Snyder Pamela C; Bridgeman Scott J; Burghes Arthur H M; Kissel John T
A positive modifier of spinal muscular atrophy in the SMN2 gene.
American journal of human genetics 2009;85(3):408-13.
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2009: Burghes Arthur H M; Beattie Christine E
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Nature reviews. Neuroscience 2009;10(8):597-609.
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2009: Workman Eileen; Saieva Luciano; Carrel Tessa L; Crawford Thomas O; Liu Don; Lutz Cathleen; Beattie Christine E; Pellizzoni Livio; Burghes Arthur H M
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
Human molecular genetics 2009;18(12):2215-29.
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2008: McGovern Vicki L; Gavrilina Tatiana O; Beattie Christine E; Burghes Arthur H M
Embryonic motor axon development in the severe SMA mouse.
Human molecular genetics 2008;17(18):2900-9.
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2008: Gavrilina Tatiana O; McGovern Vicki L; Workman Eileen; Crawford Thomas O; Gogliotti Rocky G; DiDonato Christine J; Monani Umrao R; Morris Glenn E; Burghes Arthur H M
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.
Human molecular genetics 2008;17(8):1063-75.
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2008: Burghes Arthur H M; Butchbach Matthew E R
Let all DNA vote: who are the amyotrophic lateral sclerosis candidates?
Neurology 2008;70(9):662-3.
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2008: Thurmond John; Butchbach Matthew E R; Palomo Marty; Pease Brian; Rao Munagala; Bedell Louis; Keyvan Monica; Pai Grace; Mishra Rama; Haraldsson Magnus; Andresson Thorkell; Bragason Gisli; Thosteinsdottir Margret; Bjornsson Jon Mar; Coovert Daniel D; Burghes Arthur H M; Gurney Mark E; Singh Jasbir
Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.
Journal of medicinal chemistry 2008;51(3):449-69.
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2008: McWhorter Michelle L; Boon Kum-Loong; Horan Erin S; Burghes Arthur H M; Beattie Christine E
The SMN binding protein Gemin2 is not involved in motor axon outgrowth.
Developmental neurobiology 2008;68(2):182-94.
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2008: Novoyatleva Tatyana; Heinrich Bettina; Tang Yesheng; Benderska Natalya; Butchbach Matthew E R; Lorson Christian L; Lorson Monique A; Ben-Dov Claudia; Fehlbaum Pascale; Bracco Laurent; Burghes Arthur H M; Bollen Mathieu; Stamm Stefan
Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.
Human molecular genetics 2008;17(1):52-70.
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2007: Butchbach Matthew E R; Edwards Jonathan D; Burghes Arthur H M
Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy.
Neurobiology of disease 2007;27(2):207-19.
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2007: Butchbach Matthew E R; Edwards Jonathan D; Schussler Kristie R; Burghes Arthur H M
A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy.
Journal of neuroscience methods 2007;161(2):285-90.
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2007: Deburgrave Nathalie; Daoud Fatma; Llense Stéphane; Barbot Jean Claude; Récan Dominique; Peccate Cécile; Burghes Arthur H M; Béroud Christophe; Garcia Luis; Kaplan Jean-Claude; Chelly Jamel; Leturcq France
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
Human mutation 2007;28(2):183-95.
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2007: Gabanella Francesca; Butchbach Matthew E R; Saieva Luciano; Carissimi Claudia; Burghes Arthur H M; Pellizzoni Livio
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.
PloS one 2007;2(9):e921.
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2007: Hao Le thi; Fuller Heidi R; Lam Le Thanh; Le Thanh T; Burghes Arthur H M; Morris Glenn E
Absence of gemin5 from SMN complexes in nuclear Cajal bodies.
BMC cell biology 2007;8():28.
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2006: Carrel Tessa L; McWhorter Michelle L; Workman Eileen; Zhang Honglai; Wolstencroft Elizabeth C; Lorson Christian; Bassell Gary J; Burghes Arthur H M; Beattie Christine E
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(43):11014-22.
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2005: Acharyya Swarnali; Butchbach Matthew E R; Sahenk Zarife; Wang Huating; Saji Motoyasu; Carathers Micheal; Ringel Matthew D; Skipworth Richard J E; Fearon Kenneth C H; Hollingsworth Michael A; Muscarella Peter; Burghes Arthur H M; Rafael-Fortney Jill A; Guttridge Denis C
Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia.
Cancer cell 2005;8(5):421-32.
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2005: Bertini E; Burghes A; Bushby K; Estournet-Mathiaud B; Finkel R S; Hughes R A C; Iannaccone S T; Melki J; Mercuri E; Muntoni F; Voit T; Reitter B; Swoboda K J; Tiziano D; Tizzano E; Topaloglu H; Wirth B; Zerres K
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2005;15(11):802-16.
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2005: Sharma Aarti; Lambrechts Anja; Hao Le Thi; Le Thanh T; Sewry Caroline A; Ampe Christophe; Burghes Arthur H M; Morris Glenn E
A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.
Experimental cell research 2005;309(1):185-97.
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2005: Jarecki Jill; Chen Xiaocun; Bernardino Alexandra; Coovert Daniel D; Whitney Michael; Burghes Arthur; Stack Jeffrey; Pollok Brian A
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.
Human molecular genetics 2005;14(14):2003-18.
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2005: Le Thanh T; Pham Lan T; Butchbach Matthew E R; Zhang Honglai L; Monani Umrao R; Coovert Daniel D; Gavrilina Tatiana O; Xing Lei; Bassell Gary J; Burghes Arthur H M
SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.
Human molecular genetics 2005;14(6):845-57.
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2004: Azzouz Mimoun; Le Thanh; Ralph G Scott; Walmsley Lucy; Monani Umrao R; Lee Debbie C P; Wilkes Fraser; Mitrophanous Kyriacos A; Kingsman Susan M; Burghes Arthur H M; Mazarakis Nicholas D
Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy.
The Journal of clinical investigation 2004;114(12):1726-31.
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2004: Majumder Sarmila; Varadharaj Saradhadevi; Ghoshal Kalpana; Monani Umrao; Burghes Arthur H M; Jacob Samson T
Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene.
The Journal of biological chemistry 2004;279(15):14803-11.
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2003: Sumner Charlotte J; Huynh Thanh N; Markowitz Jennifer A; Perhac J Stephen; Hill Brenna; Coovert Daniel D; Schussler Kristie; Chen Xiaocun; Jarecki Jill; Burghes Arthur H M; Taylor J Paul; Fischbeck Kenneth H
Valproic acid increases SMN levels in spinal muscular atrophy patient cells.
Annals of neurology 2003;54(5):647-54.
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2003: McWhorter Michelle L; Monani Umrao R; Burghes Arthur H M; Beattie Christine E
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.
The Journal of cell biology 2003;162(5):919-31.
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2003: Monani Umrao R; Pastore Matthew T; Gavrilina Tatiana O; Jablonka Sibylle; Le Thanh T; Andreassi Catia; DiCocco Jennifer M; Lorson Christian; Androphy Elliot J; Sendtner Michael; Podell Michael; Burghes Arthur H M
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
The Journal of cell biology 2003;160(1):41-52.
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2002: Andreassi Catia; Patrizi Anna Letizia; Monani Umrao R; Burghes A H M; Brahe Christina; Eboli Maria Luisa
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 receptor.
Neurogenetics 2002;4(1):29-36.
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2002: Mailman Matthew D; Heinz John W; Papp Audrey C; Snyder Pamela J; Sedra Mary S; Wirth Brunhilde; Burghes Arthur H M; Prior Thomas W
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(1):20-6.
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2002: Iannaccone Susan T; Burghes Arthur
Spinal muscular atrophies.
Advances in neurology 2002;88():83-98.
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2001: Andreassi C; Jarecki J; Zhou J; Coovert D D; Monani U R; Chen X; Whitney M; Pollok B; Zhang M; Androphy E; Burghes A H
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients.
Human molecular genetics 2001;10(24):2841-9.
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2001: Burghes A H; Vaessin H E; de La Chapelle A
Genetics. The land between Mendelian and multifactorial inheritance.
Science (New York, N.Y.) 2001;293(5538):2213-4.
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2001: Young P J; Le T T; Dunckley M; Nguyen T M; Burghes A H; Morris G E
Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN.
Experimental cell research 2001;265(2):252-61.
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2001: Mailman M D; Hemingway T; Darsey R L; Glasure C E; Huang Y; Chadwick R B; Heinz J W; Papp A C; Snyder P J; Sedra M S; Schafer R W; Abuelo D N; Reich E W; Theil K S; Burghes A H; de la Chapelle A; Prior T W
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
Human genetics 2001;108(2):109-15.
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2001: Spier A W; Meurs K M; Coovert D D; Lehmkuhl L B; O'Grady M R; Freeman L M; Burghes A H; Towbin J A
Use of western immunoblot for evaluation of myocardial dystrophin, alpha-sarcoglycan, and beta-dystroglycan in dogs with idiopathic dilated cardiomyopathy.
American journal of veterinary research 2001;62(1):67-71.
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2001: Besco J A; Frostholm A; Popesco M C; Burghes A H; Rotter A
Genomic organization and alternative splicing of the human and mouse RPTPrho genes: Correction.
BMC genomics 2001;2(1):5.
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2001: Besco J A; Frostholm A; Popesco M C; Burghes A H; Rotter A
Genomic organization and alternative splicing of the human and mouse RPTPrho genes.
BMC genomics 2001;2(1):1.
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2000: Young P J; Man N T; Lorson C L; Le T T; Androphy E J; Burghes A H; Morris G E
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.
Human molecular genetics 2000;9(19):2869-77.
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2000: Monani U R; Coovert D D; Burghes A H
Animal models of spinal muscular atrophy.
Human molecular genetics 2000;9(16):2451-7.
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2000: Le T T; Coovert D D; Monani U R; Morris G E; Burghes A H
The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.
Neurogenetics 2000;3(1):7-16.
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2000: Coovert D D; Le T T; Morris G E; Man N T; Kralewski M; Sendtner M; Burghes A H
Does the survival motor neuron protein (SMN) interact with Bcl-2?
Journal of medical genetics 2000;37(7):536-9.
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2000: Young P J; Le T T; thi Man N; Burghes A H; Morris G E
The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells.
Experimental cell research 2000;256(2):365-74.
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2000: Monani U R; Sendtner M; Coovert D D; Parsons D W; Andreassi C; Le T T; Jablonka S; Schrank B; Rossoll W; Prior T W; Morris G E; Burghes A H
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
Human molecular genetics 2000;9(3):333-9.
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1999: Mohaghegh P; Rodrigues N R; Owen N; Ponting C P; Le T T; Burghes A H; Davies K E
Analysis of mutations in the tudor domain of the survival motor neuron protein SMN.
European journal of human genetics : EJHG 1999;7(5):519-25.
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1999: Strasswimmer J; Lorson C L; Breiding D E; Chen J J; Le T; Burghes A H; Androphy E J
Identification of survival motor neuron as a transcriptional activator-binding protein.
Human molecular genetics 1999;8(7):1219-26.
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1999: Monani U R; Lorson C L; Parsons D W; Prior T W; Androphy E J; Burghes A H; McPherson J D
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
Human molecular genetics 1999;8(7):1177-83.
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1999: Monani U R; McPherson J D; Burghes A H
Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).
Biochimica et biophysica acta 1999;1445(3):330-6.
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1998: Parsons D W; McAndrew P E; Iannaccone S T; Mendell J R; Burghes A H; Prior T W
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
American journal of human genetics 1998;63(6):1712-23.
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1998: Parsons D W; McAndrew P E; Allinson P S; Parker W D; Burghes A H; Prior T W
Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.
Journal of medical genetics 1998;35(8):674-6.
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1998: McAndrew P E; Frostholm A; White R A; Rotter A; Burghes A H
Identification and characterization of RPTP rho, a novel RPTP mu/kappa-like receptor protein tyrosine phosphatase whose expression is restricted to the central nervous system.
Brain research. Molecular brain research 1998;56(1-2):9-21.
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1998: Lorson C L; Strasswimmer J; Yao J M; Baleja J D; Hahnen E; Wirth B; Le T; Burghes A H; Androphy E J
SMN oligomerization defect correlates with spinal muscular atrophy severity.
Nature genetics 1998;19(1):63-6.
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1998: McAndrew P E; Frostholm A; Evans J E; Zdilar D; Goldowitz D; Chiu I M; Burghes A H; Rotter A
Novel receptor protein tyrosine phosphatase (RPTPrho) and acidic fibroblast growth factor (FGF-1) transcripts delineate a rostrocaudal boundary in the granule cell layer of the murine cerebellar cortex.
The Journal of comparative neurology 1998;391(4):444-55.
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1997: Rochette C F; Surh L C; Ray P N; McAndrew P E; Prior T W; Burghes A H; Vanasse M; Simard L R
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
Neurogenetics 1997;1(2):141-7.
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1997: Coovert D D; Le T T; McAndrew P E; Strasswimmer J; Crawford T O; Mendell J R; Coulson S E; Androphy E J; Prior T W; Burghes A H
The survival motor neuron protein in spinal muscular atrophy.
Human molecular genetics 1997;6(8):1205-14.
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1997: McAndrew P E; Parsons D W; Simard L R; Rochette C; Ray P N; Mendell J R; Prior T W; Burghes A H
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
American journal of human genetics 1997;60(6):1411-22.
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1997: Prior T W; Bartolo C; Papp A C; Snyder P J; Sedra M S; Burghes A H; Kissel J T; Luquette M H; Tsao C Y; Mendell J R
Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion.
Neurology 1997;48(2):486-8.
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1997: DiDonato C J; Ingraham S E; Mendell J R; Prior T W; Lenard S; Moxley R T; Florence J; Burghes A H
Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?
Annals of neurology 1997;41(2):230-7.
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1996: Parsons D W; McAndrew P E; Monani U R; Mendell J R; Burghes A H; 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.
Human molecular genetics 1996;5(11):1727-32.
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1996: Bartolo C; Papp A C; Snyder P J; Sedra M S; Burghes A H; Hall C D; Mendell J R; Prior T W
A novel splice site mutation in a Becker muscular dystrophy patient.
Journal of medical genetics 1996;33(4):324-7.
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1996: Prior T W; Bartolo C; Papp A C; Snyder P J; Sedra M S; Burghes A H; Mendell J R
Nonsense mutations in a Becker muscular dystrophy and an intermediate patient.
Human mutation 1996;7(1):72-5.
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1995: Wirth B; Hahnen E; Morgan K; DiDonato C J; Dadze A; Rudnik-Schöneborn S; Simard L R; Zerres K; Burghes A H
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.
Human molecular genetics 1995;4(8):1273-84.
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1995: Prior T W; Bartolo C; Pearl D K; Papp A C; Snyder P J; Sedra M S; Burghes A H; Mendell J R
Spectrum of small mutations in the dystrophin coding region.
American journal of human genetics 1995;57(1):22-33.
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1995: Roy N; McLean M D; Besner-Johnston A; Lefebvre C; Salih M; Carpten J D; Burghes A H; Yaraghi Z; Ikeda J E; Korneluk R G
Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays.
Genomics 1995;26(3):451-60.
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1995: Winnard A V; Mendell J R; Prior T W; Florence J; Burghes A H
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.
American journal of human genetics 1995;56(1):158-66.
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1995: Thompson T G; DiDonato C J; Simard L R; Ingraham S E; Burghes A H; Crawford T O; Rochette C; Mendell J R; Wasmuth J J
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.
Nature genetics 1995;9(1):56-62.
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1995: Wirth B; el-Agwany A; Baasner A; Burghes A; Koch A; Dadze A; Piechaczeck-Wappenschmidt B; Rudnik-Schöneborn S; Zerres K; Schönling J
Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.
European journal of human genetics : EJHG 1995;3(1):56-60.
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1994: McLean M D; Roy N; MacKenzie A E; Salih M; Burghes A H; Simard L; Korneluk R G; Ikeda J E; Surh L
Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.
Human molecular genetics 1994;3(11):1951-6.
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1994: Carpten J D; DiDonato C J; Ingraham S E; Wagner-McPherson C; Nieuwenhuijsen B W; Wasmuth J J; Burghes A H
A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region.
Genomics 1994;24(2):351-6.
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1994: Coovert D D; Burghes A H
Gene therapy for muscle diseases.
Current opinion in neurology 1994;7(5):463-70.
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1994: Prior T W; Bartolo C; Papp A C; Snyder P J; Sedra M S; Burghes A H; Mendell J R
Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16.
Human molecular genetics 1994;3(7):1173-4.
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1994: Burghes A H; Ingraham S E; McLean M; Thompson T G; McPherson J D; Kote-Jarai Z; Carpten J D; DiDonato C J; Ikeda J E; Surh L
A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.
Genomics 1994;21(2):394-402.
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1994: Burghes A H; Ingraham S E; Kóte-Jarai Z; Rosenfeld S; Herta N; Nadkarni N; DiDonato C J; Carpten J; Hurko O; Florence J
Linkage mapping of the spinal muscular atrophy gene.
Human genetics 1994;93(3):305-12.
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1993: Prior T W; Papp A C; Snyder P J; Burghes A H; Bartolo C; Sedra M S; Western L M; Mendell J R
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
Nature genetics 1993;4(4):357-60.
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1993: Prior T W; Papp A C; Snyder P J; Burghes A H; Sedra M S; Western L M; Bartello C; Mendell J R
Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation.
Human molecular genetics 1993;2(3):311-3.
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1993: Prior T W; Papp A C; Snyder P J; Burghes A H; Sedra M S; Western L M; Bartolo C; Mendell J R
Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis.
Human mutation 1993;2(3):192-5.
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1992: Winnard A V; Jia-Hsu Y; Gibbs R A; Mendell J R; Burghes A H
Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.
Human molecular genetics 1992;1(8):645-6.
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1992: Prior T W; Papp A C; Snyder P J; Burghes A H; Wallace B H
A HindIII/BglII dystrophin gene polymorphism in the African-American population.
Human genetics 1992;89(6):687-8.
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1992: Klein C J; Coovert D D; Bulman D E; Ray P N; Mendell J R; Burghes A H
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers.
American journal of human genetics 1992;50(5):950-9.
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1991: Musarella M A; Anson-Cartwright C L; McDowell C; Burghes A H; Coulson S E; Worton R G; Rommens J M
Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis.
Genomics 1991;11(2):263-72.
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1991: Burrow K L; Coovert D D; Klein C J; Bulman D E; Kissel J T; Rammohan K W; Burghes A H; Mendell J R
Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group.
Neurology 1991;41(5):661-6.
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1989: Gillard E F; Chamberlain J S; Murphy E G; Duff C L; Smith B; Burghes A H; Thompson M W; Sutherland J; Oss I; Bodrug S E
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.
American journal of human genetics 1989;45(4):507-20.
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1989: Hu X Y; Burghes A H; Bulman D E; Ray P N; Worton R G
Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene.
American journal of human genetics 1989;44(6):855-63.
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1989: Musarella M A; Anson-Cartwright L; Burghes A; Worton R G; Lesko J G; Nussbaum R L
Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier.
Genomics 1989;4(4):601-5.
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1989: Bodrug S E; Burghes A H; Ray P M; Worton R G
Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene.
Genomics 1989;4(1):101-4.
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1988: Malhotra S B; Hart K A; Klamut H J; Thomas N S; Bodrug S E; Burghes A H; Bobrow M; Harper P S; Thompson M W; Ray P N
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.
Science (New York, N.Y.) 1988;242(4879):755-9.
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1988: Musarella M A; Burghes A; Anson-Cartwright L; Mahtani M M; Argonza R; Tsui L C; Worton R
Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.
American journal of human genetics 1988;43(4):484-94.
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1988: Hu X Y; Burghes A H; Ray P N; Thompson M W; Murphy E G; Worton R G
Partial gene duplication in Duchenne and Becker muscular dystrophies.
Journal of medical genetics 1988;25(6):369-76.
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1988: Zubrzycka-Gaarn E E; Bulman D E; Karpati G; Burghes A H; Belfall B; Klamut H J; Talbot J; Hodges R S; Ray P N; Worton R G
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle.
Nature 1988;333(6172):466-9.
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1988: Worton R G; Ray P N; Bodrug S; Burghes A H; Hu X; Thompson M W
The problem of Duchenne muscular dystrophy.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1988;319(1194):275-84.
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1988: Scott M O; Sylvester J E; Heiman-Patterson T; Shi Y J; Fieles W; Stedman H; Burghes A; Ray P; Worton R; Fischbeck K H
Duchenne muscular dystrophy gene expression in normal and diseased human muscle.
Science (New York, N.Y.) 1988;239(4846):1418-20.
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1988: Worton R G; Burghes A H
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