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1

Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis

Mori, Mari, Goldstein, Jennifer, Young, Sarah P., Bossen, Edward H., Shoffner, John, Koeberl, Dwight D.

Journal:

Molecular Genetics and Metabolism Reports

Année:

2015

Langue:

english

Fichier:

PDF, 417 KB

english, 2015

2

Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression

Baodong Sun, Haoyue Zhang, Andrew Bird, Songtao Li, Sarah P. Young, Dwight D. Koeberl

Journal:

The Journal of Gene Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 274 KB

english, 2009

3

Sequences Within the Coding Regions of Clotting Factor VIII and CFTR Block Transcriptional Elongation

Koeberl, Dwight D., Halbert, Christine L., Krumm, Anton, Miller, A. Dusty

Journal:

Human Gene Therapy

Année:

1995

Langue:

english

Fichier:

PDF, 17.09 MB

english, 1995

4

A phase 1 study of gene therapy with ACTUS-101 in late-onset Pompe disease

Koeberl, Dwight, Smith, Edward C., Case, Laura E., Hopkins, Sam, Childers, Martin K., Walters, Crista, Han, Sang-oh, Spears, Tracy G., Hornik, Christoph P., Bali, Deeksha, Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism

Année:

2020

Fichier:

PDF, 332 KB

2020

5

Comparisons of infant and adult mice reveal age effects for liver depot gene therapy in Pompe disease

Han, Sang-oh, McCall, Angela, Arnson, Benjamin, Li, Songtao, Everitt, Jeffrey I., ElMallah, Mai K., Koeberl, Dwight D.

Journal:

Molecular Genetics and Metabolism

Année:

2020

Fichier:

PDF, 342 KB

2020

6

Comparison of direct and indirect methods of carrier detection in an X-linked disease

Dwight D. Koeberl, Cynthia D. K. Bottema, Dr. Steve S. Sommer

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 803 KB

english, 1990

7

Clinical experience with array CGH: Case presentations from nine months of practice

Alexis F. Poss, Paula C. Goldenberg, Catherine W. Rehder, Hutton M. Kearney, Elizabeth C. Melvin, Dwight D. Koeberl, Marie T. McDonald

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 118 KB

english, 2006

8

Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons

Sumeer Dhar, Rhonda L. Bitting, Svetlana N. Rylova, Paul J. Jansen, Ellen Lockhart, Dwight D. Koeberl, Andrea Amalfitano, Rose-Mary N. Boustany

Journal:

Annals of Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 11.71 MB

english, 2002

9

Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease

Baodong Sun, Songtao Li, Andrew Bird, Haiqing Yi, Alex Kemper, Beth L. Thurberg, Dwight D. Koeberl

Journal:

The Journal of Gene Medicine

Année:

2010

Langue:

english

Fichier:

PDF, 460 KB

english, 2010

10

T296→M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection

Rhett P. Ketterling, Cynthia D. K. Bottema, Dwight D. Koeberl, Setsuko Ii, Steve S. Sommer

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 565 KB

english, 1991

11

In search of proof-of-concept: gene therapy for glycogen storage disease type Ia

Koeberl, Dwight D.

Journal:

Journal of Inherited Metabolic Disease

Année:

2012

Langue:

english

Fichier:

PDF, 282 KB

english, 2012

12

A past mutation at Isoleucine397 is now a common cause of moderate/mild haemophilia B

Cynthia D. K. Bottema, Dwight D. Koeberl, Rhett P. Ketterling, E. J. W. Bowie, Sherryl A. M. Taylor, David Lillicrap, Amy Shapiro, Gerald Gilchrist, Steve S. Sommer

Journal:

British Journal of Haematology

Année:

1990

Langue:

english

Fichier:

PDF, 584 KB

english, 1990

13

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency

Sarah P Young, Dietrich Matern, Niels Gregersen, Robert D Stevens, Deeksha Bali, Hui-Ming Liu, Dwight D Koeberl, David S Millington

Journal:

Clinica Chimica Acta

Année:

2003

Langue:

english

Fichier:

PDF, 284 KB

english, 2003

14

Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia

Srinevas K. Reddy, Priya S. Kishnani, Jennifer A. Sullivan, Dwight D. Koeberl, Dev M. Desai, Michael A. Skinner, Henry E. Rice, Bryan M. Clary

Journal:

Journal of Hepatology

Année:

2007

Langue:

english

Fichier:

PDF, 132 KB

english, 2007

15

Liver transplantation for glycogen storage disease type Ia

Srinevas K. Reddy, Stephanie L. Austin, Michele Spencer-Manzon, Dwight D. Koeberl, Bryan M. Clary, Dev M. Desai, Alastair D. Smith, Priya S. Kishnani

Journal:

Journal of Hepatology

Année:

2009

Langue:

english

Fichier:

PDF, 127 KB

english, 2009

16

QS223: Induction of Wnt 1 in a Genetic Disease Model of Hepatocellular Carcinoma

Dev M. Desai, Zoie Holzkenecht, Dwight D. Koeberl

Journal:

Journal of Surgical Research

Année:

2008

Langue:

english

Fichier:

PDF, 94 KB

english, 2008

17

P29. Induction of Wnt 1 in a Genetic Disease Model of Hepatocellular Carcinoma

Dev M. Desai, Zoie Holzkenecht, Dwight D. Koeberl

Journal:

Journal of Surgical Research

Année:

2008

Langue:

english

Fichier:

PDF, 36 KB

english, 2008

18

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina

Alice A. Basinger, Jessica K. Booker, Dianne M. Frazier, Dwight D. Koeberl, Jennifer A. Sullivan, Joseph Muenzer

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 141 KB

english, 2006

19

70 Enhanced response to enzyme replacement therapy in Pompe disease following the induction of immune tolerance

Dwight D. Koeberl, Baodong Sun, Andrew Bird, Sarah P. Young, Y.-T. Chen, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 41 KB

english, 2007

20

95. Muscle-targeted gene therapy in glycogen storage disease type II with adeno-associated virus serotypes 7, 8, and 9

Baodong Sun, Stephen Hauschka, Andrew Bird, Richard Auten, Dwight Koeberl

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 56 KB

english, 2008

21

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

Georgianne L. Arnold, Dwight D. Koeberl, Dietrich Matern, Bruce Barshop, Nancy Braverman, Barbara Burton, Stephen Cederbaum, Annette Fiegenbaum, Cheryl Garganta, James Gibson, Stephen I. Goodman, Cary

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 155 KB

english, 2008

22

Age-related efficacy with an AAV vector in Fabry disease mice

Dwight D. Koeberl

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 118 KB

english, 2009

23

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study

Laura E. Case, Dwight D. Koeberl, Sarah P. Young, Deeksha Bali, Stephanie M. DeArmey, Joanne Mackey, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 199 KB

english, 2008

24

77. Cross-reacting immunologic material status affects outcomes in infants with Pompe disease treated with alglucosidase alfa

Dwight Koeberl, Priya Kishnani, Paula Goldenberg, Stephanie Dearmey, James Heller, Danny Benjamin, Sarah Young, Deeksha Bali, Sue Ann Smith, Jennifer Li, Hanna Mandel, Amy Rosenburg, Y-T Chen

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 54 KB

english, 2009

25

76. CRIM responses in Pompe disease

Priya Kishnani, Dwight Koeberl

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 41 KB

english, 2009

26

Activation of glycolysis and apoptosis in glycogen storage disease type Ia

Baodong Sun, Songtao Li, Liu Yang, Tirupapuliyur Damodaran, Dev Desai, Anna Mae Diehl, Oscar Alzate, Dwight D. Koeberl

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 335 KB

english, 2009

27

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

Priya S. Kishnani, Paula C. Goldenberg, Stephanie L. DeArmey, James Heller, Danny Benjamin, Sarah Young, Deeksha Bali, Sue Ann Smith, Jennifer S. Li, Hanna Mandel, Dwight Koeberl, Amy Rosenberg, Y-T C

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 435 KB

english, 2010

28

74. Immunological aspects of treatment of Pompe disease

Priya Kishnani, Suhrad Banugaria, Stephanie DeArmey, Joanne Mackey, Sarah Young, Deeksha Bali, Dwight Koeberl, Amy Rosenberg, Yoav Messinger, Nancy Mendelsohn, William Rhead, Y.T. Chen

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 42 KB

english, 2010

29

Bortezomib: A solution to the challenge of antibodies in diseases treated with therapeutic proteins?

Suhrad Banugaria, Prater Sean, Sheela Nampoothiri, Jonathan Feldman, Joyce Kobori, Judeth McGann, Dwight Koeberl, Priya Kishnani

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 75 KB

english, 2011

30

The effect of exercise on improving strength and function in a Pompe mouse model treated with AAV vector mediated gene therapy

Laura Case, Sean Prater, Ramona Rodriguiz, Amy Pastva, Andrea Taylor, Priya Kishnani, Dwight Koeberl

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 53 KB

english, 2011

31

Mannose-6-Phosphate receptor expression modulates efficacy from enzyme replacement therapy in Pompe disease

Dwight Koeberl, Baodong Sun, Alison McVie-Wylie, Jian Dai, Songtao Li, Y.-T. Chen, Deeksha Bali

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 59 KB

english, 2011

32

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

Dwight D. Koeberl, Xiaoyan Luo, Baodong Sun, Alison McVie-Wylie, Jian Dai, Songtao Li, Suhrad G. Banugaria, Y.-T. Chen, Deeksha S. Bali

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 933 KB

english, 2011

33

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease

Dwight D. Koeberl, Songtao Li, Jian Dai, Beth L. Thurberg, Deeksha Bali, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2012

34

Beta2 Agonists Enhance Efficacy of Enzyme Replacement Therapy in Murine Pompe Disease

Dwight Koeberl, Songtao Li, Jian Dai, Beth Thurberg, Deeksha Bali, Priya Kishnani

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 56 KB

english, 2012

35

Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance

Baodong Sun, Andrew Bird, Sarah P. Young, Priya S. Kishnani, Y.-T. Chen, Dwight D. Koeberl

Journal:

The American Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 5.05 MB

english, 2007

36

Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease

Mats I. Nilsson, Imtiaz A. Samjoo, Bart P. Hettinga, Dwight D. Koeberl, Haoyue Zhang, Thomas J. Hawke, Aliyah A. Nissar, Tahir Ali, Linda Brandt, Mohammad U. Ansari, Hassan Hazari, Neha Patel, Jaihoon

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 3.36 MB

english, 2012

37

Deficiency in MyD88 Signaling Results in Decreased Antibody Responses to an Adeno-Associated Virus Vector in Murine Pompe Disease

Zhang, Ping, Luo, Xiaoyan, Bird, Andrew, Li, Songtao, Koeberl, Dwight D.

Journal:

BioResearch Open Access

Année:

2012

Langue:

english

Fichier:

PDF, 336 KB

english, 2012

38

Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia

Brooks, Elizabeth Drake, Little, Dianne, Arumugam, Ramamani, Sun, Baodong, Curtis, Sarah, DeMaster, Amanda, Maranzano, Michael, Jackson, Mark W., Kishnani, Priya, Freemark, Michael S., Koeberl, Dwight

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2013

39

Pilot study of adjunctive albuterol in late-onset Pompe disease reveals safety and efficacy from upregulated Mannose-6-phosphate receptor expression

Koeberl, Dwight, Austin, Stephanie, Case, Laura, Smith, Edward C., Buckley, Anne, Young, Sarah P., Bali, Deeksha, Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 45 KB

english, 2014

40

The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia

Lee, Young Mok, Pan, Chi-Jiunn, Koeberl, Dwight D., Mansfield, Brian C., Chou, Janice Y.

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 539 KB

english, 2013

41

Adjunctive 2-agonist therapy enhanced biochemical correction and biomarker reduction from an AAV vector expressing acid alpha-glucosidase in the skeletal muscle of mice with Pompe disease

Koeberl, Dwight, Li, Songtao, Bird, Andrew, Gazda, Kristen, Zhang, Haoyue, Young, Sarah

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 74 KB

english, 2013

42

Metabolic Myopathies: Clinical Features and Diagnostic Approach

Smith, Edward C., El-Gharbawy, Areeg, Koeberl, Dwight D.

Journal:

Rheumatic Disease Clinics of North America

Année:

2011

Langue:

english

Fichier:

PDF, 397 KB

english, 2011

43

Stone Forming Risk Factors in Patients With Type Ia Glycogen Storage Disease

Scales, Charles D., Chandrashekar, Aravind S., Robinson, Marnie R., Cantor, David A., Sullivan, Jennifer, Haleblian, George E., Leitao, Victor A., Sur, Roger L., Borawski, Kristy M., Koeberl, Dwight,

Journal:

The Journal of Urology

Année:

2010

Langue:

english

Fichier:

PDF, 142 KB

english, 2010

44

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

El-Gharbawy, Areeg H., Goldstein, Jennifer L., Millington, David S., Vaisnins, Amie E., Schlune, Andrea, Barshop, Bruce A., Schulze, Andreas, Koeberl, Dwight D., Young, Sarah P.

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 157 KB

english, 2013

45

Persistent Expression of Human Clotting Factor IX from Mouse Liver after Intravenous Injection of Adeno-Associated Virus Vectors

Dwight D. Koeberl, Ian E. Alexander, Christine L. Halbert, David W. Russell and A. Dusty Miller

Journal:

Proceedings of the National Academy of Sciences

Année:

1997

Langue:

english

Fichier:

PDF, 1.26 MB

english, 1997

46

Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers

Chiu, Li-Ya, Kishnani, Priya S., Chuang, Tzu-Po, Tang, Cheng-Yang, Liu, Cheng-Yuan, Bali, Deeksha, Koeberl, Dwight, Austin, Stephanie, Boyette, Keri, Weinstein, David A., Murphy, Elaine, Yao, Adam, Ch

Journal:

Journal of Gastroenterology

Année:

2014

Langue:

english

Fichier:

PDF, 577 KB

english, 2014

47

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygousPOLGmutation

Pankaj Prasun,Dwight D. Koeberl

Journal:

Journal of Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 220 KB

english, 2014

48

Large animal models and new therapies for glycogen storage disease

Brooks, Elizabeth D., Koeberl, Dwight D.

Journal:

Journal of Inherited Metabolic Disease

Année:

2015

Langue:

english

Fichier:

PDF, 194 KB

english, 2015

49

[IEEE 2010 IEEE Ultrasonics Symposium (IUS) - San Diego, CA, USA (2010.10.11-2010.10.14)] 2010 IEEE International Ultrasonics Symposium - Enhanced gene transfection of plasmid DNA in the liver with ultrasound and microbubbles

Seip, Ralf, Raju, Balasundar I., Leyvi, Evgeniy, Chin, Chien Ting, Li, Songtao, Rouse, Clay, Koeberl, Dwight, Fodor, William

Année:

2010

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2010

50

Enhanced Efficacy from Gene Therapy in Pompe Disease Using Coreceptor Blockade

Han, Sang-oh, Li, Songtao, Brooks, Elizabeth D., Masat, Elisa, Leborgne, Christian, Banugaria, Suhrad, Bird, Andrew, Mingozzi, Federico, Waldmann, Herman, Koeberl, Dwight

Journal:

Human Gene Therapy

Année:

2015

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2015