Burghes, Arthur H. M.: search on Z-Library

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1

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

Year:

2010

Language:

english

File:

PDF, 971 KB

english, 2010

2

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

Year:

2013

Language:

english

File:

PDF, 138 KB

english, 2013

3

Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles

Arnold, W. David, Sheth, Kajri A., Wier, Christopher G., Kissel, John T., Burghes, Arthur H., Kolb, Stephen J.

Journal:

Journal of Visualized Experiments

Year:

2015

Language:

english

File:

PDF, 508 KB

english, 2015

4

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

Year:

1982

Language:

english

File:

PDF, 1020 KB

english, 1982

5

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

Year:

1982

Language:

english

File:

PDF, 1.28 MB

english, 1982

6

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:

Year:

2014

Language:

english

File:

PDF, 58 KB

english, 2014

7

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

Year:

2005

Language:

english

File:

PDF, 587 KB

english, 2005

8

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice: Figure 8.

Gombash, Sara E., Cowley, Christopher J., Fitzgerald, Julie A., Iyer, Chitra C., Fried, David, McGovern, Vicki L., Williams, Kent C., Burghes, Arthur H.M., Christofi, Fedias L., Gulbransen, Brian D.,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 100 KB

english, 2015

9

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:

Year:

1996

Language:

english

File:

PDF, 334 KB

english, 1996

10

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

Year:

1998

File:

PDF, 543 KB

1998

11

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

Year:

1997

Language:

english

File:

PDF, 787 KB

english, 1997

12

Reply to Mackenzie

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 56 KB

english, 1998

13

New Books

L. J. Russell, A. E. Taylor, W. G. de Burgh, J. O. Wisdom, Max Black and Arthur T. Shillinglaw

Journal:

Year:

1943

Language:

english

File:

PDF, 1.72 MB

english, 1943

14

Use of western immunoblot for evaluation of myocardial dystrophin, -sarcoglycan, and -dystroglycan in dogs with idiopathic dilated cardiomyopathy

Spier, Alan W, Meurs, Kathryn M., Coovert, Daniel D, Lehmkuhl, Linda B., O'Grady, Michael R., Freeman, Lisa M., Burghes, Arthur H., Towbin, Jeffrey A.

Journal:

American Journal of Veterinary Research

Year:

2001

Language:

english

File:

PDF, 1.25 MB

english, 2001

15

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

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

Journal:

ELECTROPHORESIS

Year:

1983

Language:

english

File:

PDF, 1.99 MB

english, 1983

16

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:

Year:

1992

Language:

english

File:

PDF, 263 KB

english, 1992

17

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

Year:

1993

File:

PDF, 571 KB

1993

18

Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA

Iyer, Chitra C., McGovern, Vicki L., Murray, Jason D., Gombash, Sara E., Zaworski, Phillip G., Foust, Kevin D., Janssen, Paul M.L., Burghes, Arthur H.M.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.19 MB

english, 2015

19

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

Year:

2011

Language:

english

File:

PDF, 1.45 MB

english, 2011

20

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:

Year:

1994

File:

PDF, 473 KB

1994

21

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

Year:

1998

Language:

english

File:

PDF, 404 KB

english, 1998

22

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with Type 1 spinal muscular atrophy

D.McLean, Michael, Roy, Natalie, E.MacKenzle, Alexander, Salih, Maysoon, H.M.Burghes, Arthur, Simard, Louise, G.Kornelukw, Robert, lkeda, Joh-E., Surh, Linda

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.52 MB

english, 1994

23

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2

Mailman, Matthew D, Heinz, John W, Papp, Audrey C, Snyder, Pamela J, Sedra, Mary S, Wirth, Brunhilde, Burghes, Arthur H M, Prior, Thomas W

Journal:

Genetics in Medicine

Year:

2002

Language:

english

File:

PDF, 123 KB

english, 2002

24

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

Year:

1981

Language:

english

File:

PDF, 867 KB

english, 1981

25

Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16

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

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.79 MB

english, 1994

26

Erythrocyte membrane (Ca 2+ + Mg 2+ )-activated adenosine triphosphatase in Duchenne muscular dystrophy

DUNN, MICHAEL J., BURGHES, ARTHUR H. M., DUBOWITZ, VICTOR

Journal:

Biochemical Society Transactions

Year:

1981

Language:

english

File:

PDF, 222 KB

english, 1981

27

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.

Majumder, Sarmila, Varadharaj, Saradhadevi, Ghoshal, Kalpana, Monani, Umrao, Burghes, Arthur H. M., Jacob, Samson T.

Journal:

Journal of Biological Chemistry

Year:

2018

Language:

english

File:

PDF, 53 KB

english, 2018

28

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

Year:

2007

Language:

english

File:

PDF, 1.25 MB

english, 2007

29

SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA

McGovern, Vicki L., Iyer, Chitra C., Arnold, W. David, Gombash, Sara E., Zaworski, Phillip G., Blatnik, Anton J., Foust, Kevin D., Burghes, Arthur H.M.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.87 MB

english, 2015

30

SMN Blood Levels in a Porcine Model of Spinal Muscular Atrophy

Chitra Iyer,, Wang, Xueqian, Renusch, Samantha R., Duque, Sandra I., Wehr, Allison M., Mo, Xiaokui-Molly, McGovern, Vicki L., Arnold, W. David, Burghes, Arthur H.M., Kolb, Stephen J.

Journal:

Journal of Neuromuscular Diseases

Year:

2017

Language:

english

File:

PDF, 387 KB

english, 2017

31

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:

Year:

2007

Language:

english

File:

PDF, 326 KB

english, 2007

32

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:

Year:

1988

File:

PDF, 603 KB

1988

33

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

Year:

2000

Language:

english

File:

PDF, 335 KB

english, 2000

34

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

Year:

1999

Language:

english

File:

PDF, 521 KB

english, 1999

35

Performance of super-SILAC based quantitative proteomics for comparison of different acute myeloid leukemia (AML) cell lines

Aasebø, Elise, Vaudel, Marc, Mjaavatten, Olav, Gausdal, Gro, Van der Burgh, Arthur, Gjertsen, Bjørn Tore, Døskeland, Stein Ove, Bruserud, Øystein, Berven, Frode S., Selheim, Frode

Journal:

Year:

2014

Language:

english

File:

PDF, 678 KB

english, 2014

36

Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs

Gabanella, Francesca, Butchbach, Matthew E. R., Saieva, Luciano, Carissimi, Claudia, Burghes, Arthur H. M., Pellizzoni, Livio, Valcarcel, Juan

Journal:

Year:

2007

Language:

english

File:

PDF, 437 KB

english, 2007

37

Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy

Mitrpant, Chalermchai, Porensky, Paul, Zhou, Haiyan, Price, Loren, Muntoni, Francesco, Fletcher, Sue, Wilton, Steve D., Burghes, Arthur H. M., Buratti, Emanuele

Journal:

Year:

2013

Language:

english

File:

PDF, 2.99 MB

english, 2013

38

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

Year:

2008

Language:

english

File:

PDF, 401 KB

english, 2008

39

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

Year:

1999

Language:

english

File:

PDF, 453 KB

english, 1999

40

Variable phenotypic expression and onset in MYH14 distal HMN phenotype in a large, multigenerational North American family

Iyadurai, Stanley, Arnold, W. David, Kissel, John T., Ruhno, Corey, McGovern, Vicki L., Snyder, Pamela J., Prior, Thomas W., Roggenbuck, Jennifer, Burghes, Arthur H., Kolb, Stephen J.

Journal:

Year:

2016

Language:

english

File:

PDF, 797 KB

english, 2016

41

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy

Butchbach, Matthew E.R., Lumpkin, Casey J., Harris, Ashlee W., Saieva, Luciano, Edwards, Jonathan D., Workman, Eileen, Simard, Louise R., Pellizzoni, Livio, Burghes, Arthur H.M.

Journal:

Experimental Neurology

Year:

2016

Language:

english

File:

PDF, 1.22 MB

english, 2016

42

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

Year:

2003

Language:

english

File:

PDF, 734 KB

english, 2003

43

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

Year:

1982

Language:

english

File:

PDF, 809 KB

english, 1982

44

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

Year:

1985

Language:

english

File:

PDF, 2.32 MB

english, 1985

45

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

Year:

2007

Language:

english

File:

PDF, 358 KB

english, 2007

46

Spinal muscular atrophy: Development and implementation of potential treatments

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

Journal:

Annals of Neurology

Year:

2013

Language:

english

File:

PDF, 731 KB

english, 2013

47

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

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

Journal:

ELECTROPHORESIS

Year:

1983

Language:

english

File:

PDF, 2.42 MB

english, 1983

48

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:

Year:

1995

Language:

english

File:

PDF, 1.49 MB

english, 1995

49

Gene therapy for muscle diseases

Coovert, Daniel D., Burghes, Arthur H. M.

Journal:

Current Opinion in Neurology

Year:

1994

File:

PDF, 755 KB

1994

50

Far‐Ultraviolet Spectroscopy of Venus and Mars at 4 A Resolution with the Hopkins Ultraviolet Telescope on Astro‐2

Feldman, Paul D., Burgh, Eric B., Durrance, Samuel T., Davidsen, Arthur F.

Journal:

The Astrophysical Journal

Year:

2000

Language:

english

File:

PDF, 543 KB

english, 2000

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