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1

Analysis of skin fibroblast proteins in Duchenne muscular dystrophy: 1. Sodium dodecyl sulphate polyacrylamide gel electrophoresis

Dr. Arthur H. M. Burghes, Michael J. Dunn, Helen E. Statham, Victor Dubowitz

Journal:

ELECTROPHORESIS

Année:

1982

Langue:

english

Fichier:

PDF, 1020 KB

english, 1982

2

Analysis of skin fibroblast proteins in Duchenne muscular dystrophy: 2. Isoelectric focusing under dissociating conditions

Arthur H. M. Burghes, Michael J. Dunn, Helen E. Statham, Victor Dubowitz

Journal:

ELECTROPHORESIS

Année:

1982

Langue:

english

Fichier:

PDF, 1.28 MB

english, 1982

3

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

Foust, Kevin D, Wang, Xueyong, McGovern, Vicki L, Braun, Lyndsey, Bevan, Adam K, Haidet, Amanda M, Le, Thanh T, Morales, Pablo R, Rich, Mark M, Burghes, Arthur H M

Journal:

Nature Biotechnology

Année:

2010

Langue:

english

Fichier:

PDF, 971 KB

english, 2010

4

SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe

Nathalie Kayadjanian, Arthur Burghes, Richard S Finkel…

Journal:

Orphanet Journal of Rare Diseases

Année:

2013

Langue:

english

Fichier:

PDF, 138 KB

english, 2013

5

The motor neuron response to SMN1 deficiency in spinal muscular atrophy

Arnold, W. David, Mo, Xiaokui, Kolb, Stephen J., Burghes, Arthur H., Kissel, John T.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 58 KB

english, 2014

6

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

Thomas W. Prior, Claire Bartolo, Audrey C. Papp, Pamela J. Snyder, Mary S. Sedra, Arthur H.M. Burghes, Jerry R. Mendell

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 334 KB

english, 1996

7

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

Charlotte J. Sumner, Thanh N. Huynh, Jennifer A. Markowitz, J. Stephen Perhac, Brenna Hill, Daniel D. Coovert, Kristie Schussler, Xiaocun Chen, Jill Jarecki, Arthur H. M. Burghes, J. Paul Taylor, Kenn

Journal:

Annals of Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 734 KB

english, 2003

8

Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?

Christine J. Didonato, Susan E. Ingraham, Jerry R. Mendell, Thomas W. Prior, Sharon Lenard, Richard T. Moxley III, Julaine Florence, Dr Arthur H. M. Burghes

Journal:

Annals of Neurology

Année:

1997

Langue:

english

Fichier:

PDF, 787 KB

english, 1997

9

The SMN binding protein gemin2 is not involved in motor axon outgrowth

Michelle L. McWhorter, Kum-loong Boon, Erin S. Horan, Arthur H.M. Burghes, Christine E. Beattie

Journal:

Developmental Neurobiology

Année:

2008

Langue:

english

Fichier:

PDF, 401 KB

english, 2008

10

The application of direct tissue isoelectric focusing to the study of human skeletal muscle

Basil J. Thompson, Arthur H. M. Burghes, Michael J. Dunn, Victor Dubowitz

Journal:

ELECTROPHORESIS

Année:

1981

Langue:

english

Fichier:

PDF, 867 KB

english, 1981

11

Enhancement of resolution in two-dimensional gel electrophoresis and simultaneous resolution of acidic and basic proteins

Arthur H. M. Burghes, Dr. Michael J. Dunn, Victor Dubowitz

Journal:

ELECTROPHORESIS

Année:

1982

Langue:

english

Fichier:

PDF, 939 KB

english, 1982

12

Improvements of isoelectric focusing in agarose for direct tissue isoelectric focusing

Basil J. Thompson, Dr. Michael J. Dunn, Arthur H. M. Burghes, V. Dubowitz

Journal:

ELECTROPHORESIS

Année:

1982

Langue:

english

Fichier:

PDF, 809 KB

english, 1982

13

High resolution two-dimensional polyacrylamide gel electrophoresis. I. Methodological procedures

Dr. Michael J. Dunn, Arthur H. M. Burghes

Journal:

ELECTROPHORESIS

Année:

1983

Langue:

english

Fichier:

PDF, 2.42 MB

english, 1983

14

High resolution two-dimensional polyacrylamide gel electrophoresis. II. Analysis and applications

Dr. Michael J. Dunn, Arthur H. M. Burghes

Journal:

ELECTROPHORESIS

Année:

1983

Langue:

english

Fichier:

PDF, 1.99 MB

english, 1983

15

Comparison of focusing in buffers and synthetic carrier ampholytes for use in the first dimension of two dimensional polyacrylamide gel electrophoresis

Arthur H. M. Burghes, Ketan Patel, Michael J. Dunn

Journal:

ELECTROPHORESIS

Année:

1985

Langue:

english

Fichier:

PDF, 2.32 MB

english, 1985

16

Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis

Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder, Arthur H. M. Burghes, Mary S. Sedra, Lorraine M. Western, Claire Bartolo, Jerry R. Mendell

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 389 KB

english, 1993

17

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

Nathalie Deburgrave, Fatma Daoud, Stéphane Llense, Jean Claude Barbot, Dominique Récan, Cécile Peccate, Arthur H.M. Burghes, Christophe Béroud, Luis Garcia, Jean-Claude Kaplan, Jamel Chelly, France Le

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 326 KB

english, 2007

18

High resolution two-dimensional polyacrylamide gel electrophoresis

Michael J. Dunn, Arthur H.M. Burghes

Journal:

TrAC Trends in Analytical Chemistry

Année:

1983

Langue:

english

Fichier:

PDF, 1.49 MB

english, 1983

19

Indoprofen Upregulates the Survival Motor Neuron Protein through a Cyclooxygenase-Independent Mechanism

Mitchell R. Lunn, David E. Root, Allison M. Martino, Stephen P. Flaherty, Brian P. Kelley, Daniel D. Coovert, Arthur H. Burghes, Nguyen thi Man, Glenn E. Morris, Jianhua Zhou, Elliot J. Androphy, Char

Journal:

Chemistry & Biology

Année:

2004

Langue:

english

Fichier:

PDF, 186 KB

english, 2004

20

A novel method for oral delivery of drug compounds to the neonatal SMNΔ7 mouse model of spinal muscular atrophy

Matthew E.R. Butchbach, Jonathan D. Edwards, Kristie R. Schussler, Arthur H.M. Burghes

Journal:

Journal of Neuroscience Methods

Année:

2007

Langue:

english

Fichier:

PDF, 358 KB

english, 2007

21

Absence of gemin5 from SMN complexes in nuclear Cajal bodies

Le thi Hao, Heidi R Fuller, Le Thanh Lam, Thanh T Le, Arthur HM Burghes, Glenn E Morris

Journal:

BMC Cell Biology

Année:

2007

Langue:

english

Fichier:

PDF, 3.12 MB

english, 2007

22

Generation and Characterization of a genetic zebrafish model of SMA carrying the humanSMN2gene

Le T Hao, Arthur HM Burghes, Christine E Beattie

Journal:

Molecular Neurodegeneration

Année:

2011

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2011

23

Linkage mapping of the spinal muscular atrophy gene

Arthur H. M. Burghes, Susan E. Ingraham, Zsofia Kóte-Jarai, Scott Rosenfeld, Nancy Herta, Nitin Nadkarni, Christine J. DiDonato, John Carpten, Orest Hurko, Julaine Florence, Richard T. Moxley, Jan M.

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 741 KB

english, 1994

24

AHindIII/BglII dystrophin gene polymorphism in the African-American population

Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder, Arthur H. M. Burghes, Brian H. Wallace

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 263 KB

english, 1992

25

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

Ray, Peter N., Worton, Ronald G., Zubrzycka-Gaarn, Elizabeth E., Bulman, Dennis E., Karpati, George, Burghes, Arthur H. M., Belfall, Bonnie, Klamut, Henry J., Talbot, Jim, Hodges, Robert S.

Journal:

Année:

1988

Fichier:

PDF, 603 KB

1988

26

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

Thompson, Terri G., DiDonato, Christine J., Simard, Louise R., Ingraham, Susan E., Burghes, Arthur H.M., Crawford, Thomas O., Rochette, Camille, Mendell, Jerry R., Wasmuth, John J.

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 897 KB

1995

27

SMN oligomerization defect correlates with spinal muscular atrophy severity

Lorson, Christian L., Strasswimmer, John, Yao, Jun-Mei, Baleja, James D., Hahnen, Eric, Wirth, Brunhilde, Le, Thanh, Burghes, Arthur H.M., Androphy, Elliot J.

Journal:

Nature Genetics

Année:

1998

Fichier:

PDF, 543 KB

1998

28

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

Prior, Thomas W., Papp, Audrey C., Snyder, Pamela J., Burghes, Arthur H. M., Bartolo, Claire, Sedra, Mary S., Western, Lorraine M., Mendell, Jerry R.

Journal:

Nature Genetics

Année:

1993

Fichier:

PDF, 571 KB

1993

29

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Burghes, Arthur H. M., Beattie, Christine E.

Journal:

Nature Reviews Neuroscience

Année:

2009

Langue:

english

Fichier:

PDF, 481 KB

english, 2009

30

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN

Mohaghegh, Payam, Rodrigues, Nanda R, Owen, Nicholas, Ponting, Christopher P, Le, Thanh T, Burghes, Arthur HM, Davies, Kay E

Journal:

European Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 521 KB

english, 1999

31

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

Thomas W. Prior, Adrian R. Krainer, Yimin Hua, Kathryn J. Swoboda, Pamela C. Snyder, Scott J. Bridgeman, Arthur H.M. Burghes, John T. Kissel

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 454 KB

english, 2009

32

Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy

Matthew E.R. Butchbach, Jonathan D. Edwards, Arthur H.M. Burghes

Journal:

Neurobiology of Disease

Année:

2007

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2007

33

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT)

Umrao R. Monani, John D. McPherson, Arthur H.M. Burghes

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Année:

1999

Langue:

english

Fichier:

PDF, 453 KB

english, 1999

34

Genomic organization and alternative splicing of the human and mouse RPTPρ genes

Julie A Besco, Adrienne Frostholm, Magdalena C Popesco, Arthur HM Burghes, Andrej Rotter

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 914 KB

english, 2001

35

Genomic organization and alternative splicing of the human and mouse RPTPρ genes: Correction

Julie A Besco, Adrienne Frostholm, Magdalena C Popesco, HM Arthur Burghes, Andrej Rotter

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 161 KB

english, 2001

36

The Relationship between SMN, the Spinal Muscular Atrophy Protein, and Nuclear Coiled Bodies in Differentiated Tissues and Cultured Cells

Philip J. Young, Thanh T. Le, Nguyen thi Man, Arthur H.M. Burghes, Glenn E. Morris

Journal:

Experimental Cell Research

Année:

2000

Langue:

english

Fichier:

PDF, 335 KB

english, 2000

37

A Multicopy Dinucleotide Marker That Maps Close to the Spinal Muscular Atrophy Gene

Arthur H.M. Burghes, Susan E. Ingraham, Michael McLean, Terri G. Thompson, John D. McPherson, Zsofia Kote-Jarai, John D. Carpten, Christine J. DiDonato, Joh-E. Ikeda, Linda Surh, Brunhilde Wirth, Caro

Journal:

Année:

1994

Fichier:

PDF, 533 KB

1994

38

A YAC Contig of the Region Containing the Spinal Muscular Atrophy Gene (SMA): Identification of an Unstable Region

John D. Carpten, Christine J. DiDonato, Susan E. Ingraham, Caryn Wagner-McPherson, Bart W. Nieuwenhuijsen, John J. Wasmuth, Arthur H.M. Burghes

Journal:

Année:

1994

Fichier:

PDF, 473 KB

1994

39

Genomic Organization and Biological Characterization of the Novel Human CC Chemokine DC-CK-1/PARC/MIP-4/SCYA18

Ping Guan, Arthur H.M. Burghes, Anne Cunningham, Paul Lira, William H. Brissette, Kuldeep Neote, Shaun R. McColl

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 179 KB

english, 1999

40

Gene delivery to spinal motor neurons

Zarife Sahenk, Jegatheesan Seharaseyon, Jerry R. Mendell, Arthur H.M. Burghes

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 664 KB

english, 1993

41

Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays

Natalie Roy, Michael D. Mclean, Anne Besner-Johnston, Charles Lefebvre, Maysoon Salih, John D. Carpten, Arthur H.M. Burghes, Zahra Yaraghi, Joh-E Ikeda, Robert G. Korneluk, Alexander E. Mackenzie

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 1.49 MB

english, 1995

42

Reply to Mackenzie

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 56 KB

english, 1998

43

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

Yao-Hua Zhang, Weiwen Guo, Richard L. Wagner, Bing-Ling Huang, Linda McCabe, Eric Vilain, Thomas P. Burris, Kwame Anyane-Yeboa, Arthur H.M. Burghes, David Chitayat, Albert E. Chudley, Myron Genel, Jos

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 404 KB

english, 1998

44

When Is a Deletion Not a Deletion? When It Is Converted

Arthur H.M. Burghes

Journal:

The American Journal of Human Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 140 KB

english, 1997

45

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells

Aarti Sharma, Anja Lambrechts, Le thi Hao, Thanh T. Le, Caroline A. Sewry, Christophe Ampe, Arthur H.M. Burghes, Glenn E. Morris

Journal:

Experimental Cell Research

Année:

2005

Langue:

english

Fichier:

PDF, 587 KB

english, 2005

46

Perspectives on models of spinal muscular atrophy for drug discovery

Matthew E.R. Butchbach, Arthur H.M. Burghes

Journal:

Drug Discovery Today: Disease Models

Année:

2004

Langue:

english

Fichier:

PDF, 170 KB

english, 2004

47

Antisense Oligonucleotides for the Treatment of Spinal Muscular Atrophy

Porensky, Paul N., Burghes, Arthur H.M.

Journal:

Human Gene Therapy

Année:

2013

Langue:

english

Fichier:

PDF, 388 KB

english, 2013

48

Spinal muscular atrophy: Development and implementation of potential treatments

Arnold, W. David, Burghes, Arthur H. M.

Journal:

Annals of Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 731 KB

english, 2013

49

Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy

Iyer, Chitra C., McGovern, Vicki L., Wise, Dawnne O., Glass, David J., Burghes, Arthur H.M.

Journal:

Neuromuscular Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 2.89 MB

english, 2014

50

The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice

Butchbach, Matthew E.R., Singh, Jasbir, Gurney, Mark E., Burghes, Arthur H.M.

Journal:

Experimental Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 764 KB

english, 2014