المؤلفون: William B. Hannah, Laura E. Case, Edward C. Smith, Crista Walters, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

المصدر: JIMD Reports, Vol 64, Iss 5, Pp 393-400 (2023)

مصطلحات موضوعية: adeno‐associated virus, gene therapy, Pompe disease, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/d8832d4d282b4cac8148d3645a6ca744

المؤلفون: Benjamin Arnson, Hye Ri Kang, Elizabeth D. Brooks, Dorothy Gheorghiu, Ekaterina Ilich, David Courtney, Jeffrey I. Everitt, Bryan R. Cullen, Dwight D. Koeberl

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 108-119 (2023)

مصطلحات موضوعية: genome editing, CRISPR-Cas9, adeno-associated virus vectors, inherited disorder of metabolism, glycogen storage disease, glucose-6-phosphatase, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050123000372; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/8282e120c0924cec897cf976a2665255

المؤلفون: Jason Wang, Chris J. Zhou, Alastair Khodabukus, Sabrina Tran, Sang-Oh Han, Aaron L. Carlson, Lauran Madden, Priya S. Kishnani, Dwight D. Koeberl, Nenad Bursac

المصدر: Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/e7bed5b1c04b4acdbdebddf5309410f2

المؤلفون: Sang-oh Han, Songtao Li, Angela McCall, Benjamin Arnson, Jeffrey I. Everitt, Haoyue Zhang, Sarah P. Young, Mai K. ElMallah, Dwight D. Koeberl

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 133-142 (2020)

مصطلحات موضوعية: Pompe disease, glycogen storage disease, adeno-associated virus vector, infantile, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050119301457; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/c420a65b4c434febb94fb8a86044fc55

المؤلفون: Andrew P. VanDemark, Stacy L. Hrizo, Samantha L. Eicher, Jules Kowalski, Tracey D. Myers, Megan R. Pfeifer, Kacie N. Riley, Dwight D. Koeberl, Michael J. Palladino

المصدر: Disease Models & Mechanisms, Vol 15, Iss 5 (2022)

مصطلحات موضوعية: biochemistry, glycolytic dysfunction, structural biology, triosephosphate isomerase, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/15/5/dmm049261; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/6e587810fc2644ddac6db38219dae764

المؤلفون: Hye-Ri Kang, Monika Gjorgjieva, Stephanie N. Smith, Elizabeth D. Brooks, Zelin Chen, Shawn M. Burgess, Randy J. Chandler, Lauren R. Waskowicz, Kylie M. Grady, Songtao Li, Gilles Mithieux, Charles P. Venditti, Fabienne Rajas, Dwight D. Koeberl

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 15, Iss , Pp 383-391 (2019)

مصطلحات موضوعية: Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S232905011930124X; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/b62c7d87ff05429b9ac33973aa0abe54

المؤلفون: Hye-Ri Kang, Lauren Waskowicz, Andrea M. Seifts, Dustin J. Landau, Sarah P. Young, Dwight D. Koeberl

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 13, Iss , Pp 265-273 (2019)

مصطلحات موضوعية: Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050119300191; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/de679cdfd2184c5d826d0048eafe3c3b

المؤلفون: Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee, Fuu-Jen Tsai, Dwight D. Koeberl, Wen-Hui Tsai, Pao-Chin Chiu, Chaw-Liang Chang

المصدر: Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 31-35 (2017)

مصطلحات موضوعية: Pompe disease, Enzyme replacement therapy, Albuterol, Creatine kinase, 6-Min walk test, 4-Stair climb test, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917300423; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/1b01407f90ab444ba4fcb235b6b1f437

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

المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 39-41 (2015)

مصطلحات موضوعية: Mitochondrial myopathy, Cytochrome b, Complex III deficiency, Ketotic hypoglycemia, Carnitine deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426915300161; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/9eb665720dd54638bbbe8baae626be02

المؤلفون: Haiqing Yi, Beth L. Thurberg, Sarah Curtis, Stephanie Austin, John Fyfe, Dwight D. Koeberl, Priya S. Kishnani, Baodong Sun

المصدر: Disease Models & Mechanisms, Vol 5, Iss 6, Pp 804-811 (2012)

مصطلحات موضوعية: Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/5/6/804; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/19f7fa5e7dc54dfa8da97f149c9a4f34

المؤلفون: Xiaoyan Li, Dwight D. Koeberl, Michael W. Lutz, Richard Bedlack

المصدر: Journal of Clinical Neuromuscular Disease. 24:214-221

مصطلحات موضوعية: Neurology, Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a99ab616e0812a2930224b692ee297ea
https://doi.org/10.1097/cnd.0000000000000438

المؤلفون: Julie Lekstrom‐Himes, P J Brooks, Dwight D. Koeberl, Amy Brower, Aaron Goldenberg, Robert C. Green, Jill A. Morris, Joseph J. Orsini, Timothy W. Yu, Erika F. Augustine

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:30-43

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8a7c271e32f6e5b778a2f0b73435a23b
https://doi.org/10.1002/ajmg.c.32031

المؤلفون: Su Jin Choi, John S. Yi, Jeong‐A Lim, Thomas F. Tedder, Dwight D. Koeberl, William Jeck, Ankit K. Desai, Amy Rosenberg, Baodong Sun, Priya S. Kishnani

المصدر: The Journal of Gene Medicine.

مصطلحات موضوعية: Drug Discovery, Genetics, Molecular Medicine, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::45ecf6fb6a26e190b56e6cd295b20e43
https://doi.org/10.1002/jgm.3509

المؤلفون: Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-oh Han, Tracy G. Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

المصدر: Molecular Therapy.

مصطلحات موضوعية: Pharmacology, Drug Discovery, Genetics, Molecular Medicine, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ade7b2b9b5e1c9dfb4eab648fd879c08
https://doi.org/10.1016/j.ymthe.2023.02.014

المؤلفون: M. Laura Duque Lasio, Angela C. Leshinski, Nicole H. Ducich, Leigh Anne Flore, April Lehman, Natasha Shur, Parul B. Jayakar, Bryan E. Hainline, Alice A. Basinger, William G. Wilson, George A. Diaz, Richard W. Erbe, Dwight D. Koeberl, Jerry Vockley, Jirair K. Bedoyan

المصدر: Molecular Genetics and Metabolism. 139:107605

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eaeadf39d05523c7fa729dfaf9a625f1
https://doi.org/10.1016/j.ymgme.2023.107605

المؤلفون: Dwight D. Koeberl, Sabrina Tran, Chris J. Zhou, Alastair Khodabukus, Lauran Madden, Aaron L. Carlson, Priya S. Kishnani, Jason Wang, Nenad Bursac, Sang-oh Han

المصدر: Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
Communications Biology

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, QH301-705.5, Metabolic disorders, Medicine (miscellaneous), Muscle Development, Article, General Biochemistry, Genetics and Molecular Biology, Virus, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Lysosome, medicine, Animals, Biology (General), Muscle, Skeletal, Mice, Knockout, Tissue Engineering, Glycogen, Glycogen Storage Disease Type II, business.industry, Myocardium, Cardiac muscle, Skeletal muscle, alpha-Glucosidases, Enzyme replacement therapy, Dependovirus, Pathophysiology, In vitro, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, chemistry, Musculoskeletal models, Lysosomes, General Agricultural and Biological Sciences, business, 030217 neurology & neurosurgery, Muscle Contraction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d88678a75aca4a7e40d5e15cc993eb9f
https://doaj.org/article/e7bed5b1c04b4acdbdebddf5309410f2

المؤلفون: Loren D.M. Peña, Lindsay C. Burrage, Gregory M. Enns, Edward D. Esplin, Cary Harding, Jerry R. Mendell, Zhiyv (Neal) Niu, Curt Scharfe, Timothy Yu, Dwight D. Koeberl

المصدر: Genetics in Medicine. :100831

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::64abd1266bc3dec1bb717b98dc1713ec
https://doi.org/10.1016/j.gim.2023.100831

المؤلفون: Sang-oh Han, Priya S. Kishnani, Laura E. Case, Beth L. Thurberg, Edward C. Smith, Deeksha Bali, Sarah P. Young, Crista Walters, Dwight D. Koeberl, Ankit K. Desai

المصدر: Molecular Genetics and Metabolism. 129:67-72

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Vital capacity, Supine position, Endocrinology, Diabetes and Metabolism, Vital Capacity, Walk Test, Disease, 030105 genetics & heredity, Biochemistry, Late Onset Disorders, law.invention, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Double-Blind Method, Randomized controlled trial, immune system diseases, law, Forced Expiratory Volume, Genetics, Humans, Medicine, Albuterol, Enzyme Replacement Therapy, Muscle, Skeletal, Adverse effect, Molecular Biology, Glycogen Storage Disease Type II, business.industry, Enzyme replacement therapy, Middle Aged, respiratory tract diseases, Clinical trial, Treatment Outcome, Phase i ii, Anesthesia, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef9d80b74578edbea6e4b0b5ba9a4450
https://doi.org/10.1016/j.ymgme.2019.12.008

المؤلفون: Sang-oh Han, Priya S. Kishnani, Alexina C. Haynes, Richard Steet, Songtao Li, Dennis M. Abraham, Dwight D. Koeberl

المصدر: Mol Genet Metab

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, Pharmacology, Biochemistry, Article, Muscle hypertrophy, Mice, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Glycogen storage disease type II, Genetics, Animals, Medicine, Enzyme Replacement Therapy, Insulin-Like Growth Factor I, Muscle, Skeletal, Myopathy, Molecular Biology, Carvedilol, Antihypertensive Agents, Mice, Knockout, Glycogen Storage Disease Type II, business.industry, nutritional and metabolic diseases, Skeletal muscle, alpha-Glucosidases, Enzyme replacement therapy, medicine.disease, Disease Models, Animal, Losartan, medicine.anatomical_structure, Acid alpha-glucosidase, Drug Therapy, Combination, Female, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c962400fd939de0eda4e7c153fa82106
https://doi.org/10.1016/j.ymgme.2019.10.005

المؤلفون: Benjamin L. Farah, Dwight D. Koeberl, Paul M. Yen

المصدر: Mol Genet Metab

مصطلحات موضوعية: 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Glycogenolysis, Glycogen Storage Disease Type I, 030105 genetics & heredity, Biology, Mitochondrion, Biochemistry, Article, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Autophagy, Genetics, Animals, Humans, Muscle, Skeletal, Molecular Biology, chemistry.chemical_classification, Glycogen, Glycogen Storage Disease Type II, Glycogen metabolism, Glycogen Storage Disease, Cell biology, Enzyme, chemistry, 030217 neurology & neurosurgery, Intracellular, Function (biology)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47145df4ad82331065275c6c77bce49f
https://doi.org/10.1016/j.ymgme.2019.11.005