المؤلفون: Sanford L. Boye, Catherine O’Riordan, James Morris, Michael Lukason, David Compton, Rena Baek, Dana M. Elmore, James.J. Peterson, Diego Fajardo, K. Tyler McCullough, Abraham Scaria, Alison McVie-Wylie, Shannon E. Boye

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 28, Iss , Pp 129-145 (2023)

مصطلحات موضوعية: AAV, adeno-associated virus, GUCY2D, Leber congenital amaurosis, LCA, LCA1, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050122001802; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/a3ce88c96c0141e087c17132b69d17e5

المؤلفون: R. Bradley Troxler, Marta Sabbadini, Neerja Gupta, David Kronn, Ankit K. Desai, Katalin Scherer, Susan M. Richards, Alison McVie-Wylie, Priya S. Kishnani, Reeval Segel, Langston Sherry, Alexandra Joseph, Pranoot Tanpaiboon, William B. Rizzo, Crystal Sung, Seymour Packman, Sheela Nampoothiri, Zoheb B. Kazi, Omar A. Abdul-Rahman, Annette Feigenbaum, Dmitriy Niyazov

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, alglucosidase alfa, Disease, 030105 genetics & heredity, Cross Reactions, Low dose methotrexate, Gastroenterology, Article, methotrexate, Immune tolerance, 03 medical and health sciences, Internal medicine, medicine, Immune Tolerance, Humans, prophylactic immune tolerance induction, Enzyme Replacement Therapy, Age of Onset, Alglucosidase alfa, Genetics (clinical), business.industry, Glycogen Storage Disease Type II, Infant, Newborn, Therapeutic protein, Infant, Pompe disease, alpha-Glucosidases, 3. Good health, Titer, 030104 developmental biology, anti-drug antibodies, Methotrexate, Female, Infantile onset, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cff38644df8f1171fb7fb7176b52f98
https://pubmed.ncbi.nlm.nih.gov/30214072

المؤلفون: Alison McVie-Wylie, Rachel Palmer, Yuefeng Lu, Rena C. Baek, Robert J. Pomponio, Xiwen Ma

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 48-50 (2016)

مصطلحات موضوعية: medicine.medical_specialty, ACE, angiotensin-converting enzyme, Short Communication, GAA, acid-alpha glucosidase, Late onset, 6MWT, 6-Minute Walk Test, Disease, IOPD, infantile-onset Pompe disease, PCR, polymerase chain reaction, Endocrinology, Internal medicine, I, insertion, Genotype, Genetics, medicine, lcsh:QH301-705.5, Molecular Biology, Gene, Alglucosidase alfa, lcsh:R5-920, D, deletion, biology, business.industry, Gene polymorphism, Pompe disease, Angiotensin-converting enzyme, Enzyme replacement therapy, QMT, quantitative muscle testing, ERT, enzyme replacement therapy, lcsh:Biology (General), LOTS, Late-Onset Treatment Study, FVC, forced vital capacity, biology.protein, lcsh:Medicine (General), LOPD, late-onset Pompe disease, business, MRI, magnetic resonance imaging, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa8f13f032bbb4938b1904b0654aaa6e

المؤلفون: Siem de Marie, A. Hasegawa, Alison McVie-Wylie, Rachel Palmer, Patrick Finn, Robert J. Pomponio, Mario Pescatori, K. So, K.M. Ciociola, Adam Palermo, Sueli Mieko Oba-Shinjo, Robert J. Mattaliano, Shruti Madhiwalla, Brenda Richards, Katherine W. Klinger, Stephen L. Madden, Mindy Zhang

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Male, Transcription, Genetic, Endocrinology, Diabetes and Metabolism, Gene Expression, Disease, Biology, Biochemistry, Endocrinology, Glycogen storage disease type II, Genetics, medicine, Lysosomal storage disease, Humans, Age of Onset, Child, Muscle, Skeletal, Molecular Biology, LIPOSSOMOS (DEFICIÊNCIA), Glycogen Storage Disease Type II, Infant, Newborn, Genetic disorder, Infant, alpha-Glucosidases, Enzyme replacement therapy, medicine.disease, Gene expression profiling, Phenotype, Child, Preschool, Immunology, Acid alpha-glucosidase, Biomarker (medicine), Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::565df81407e9ecb8a48744db5805fe9d
https://doi.org/10.1016/j.ymgme.2012.05.004

المؤلفون: Alison McVie-Wylie, Lindsay A. Quigley, Carol Dinardo, Kelly A. Keefe, Carol A. Nelson, Jennifer A. McCullough, Bruce M. Wentworth, Lorena Ceci, Nicholas P. Clayton, Stefan Girgenrath, John P. Leonard, Seng H. Cheng, William Weber, R. Bridge Hunter

المصدر: The American Journal of Pathology. 178:2611-2621

مصطلحات موضوعية: medicine.medical_specialty, Respiratory rate, Duchenne muscular dystrophy, Diaphragm, Muscle Fibers, Skeletal, Biology, Losartan, Pathology and Forensic Medicine, Mice, Grip strength, Enalapril, Transforming Growth Factor beta, Internal medicine, medicine, Animals, Respiratory function, RNA, Messenger, Peak flow meter, Creatine Kinase, measurement_unit, Inflammation, Dose-Response Relationship, Drug, Hand Strength, Respiration, Body Weight, Regular Article, Organ Size, medicine.disease, Pathophysiology, Respiratory Function Tests, Hydroxyproline, Dose–response relationship, Endocrinology, Gene Expression Regulation, measurement_unit.measuring_instrument, Mice, Inbred mdx, Myogenin, Cell Adhesion Molecules, Biomarkers, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::853e060a02beaf09fe98d9c7e74c9a44
https://doi.org/10.1016/j.ajpath.2011.02.024

المؤلفون: Dwight D. Koeberl, Jian Dai, Alison McVie-Wylie, Yuan-Tsong Chen, Songtao Li, Suhrad G. Banugaria, Deeksha Bali, Baodong Sun, Xiaoyan Luo

المصدر: Molecular Genetics and Metabolism. 103:107-112

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Motor Activity, Biology, Biochemistry, Receptor, IGF Type 2, Article, Mice, chemistry.chemical_compound, Endocrinology, Internal medicine, Glycogen storage disease type II, Conditional gene knockout, Genetics, medicine, Animals, Clenbuterol, Enzyme Replacement Therapy, Muscle, Skeletal, Receptor, Molecular Biology, Mice, Knockout, Mannose 6-phosphate receptor, Glycogen, Glycogen Storage Disease Type II, nutritional and metabolic diseases, Skeletal muscle, alpha-Glucosidases, Enzyme replacement therapy, Adrenergic beta-Agonists, medicine.disease, Disease Models, Animal, medicine.anatomical_structure, chemistry, Acid alpha-glucosidase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc308d5270156a75ae1ec1f5e6f5fd4a
https://doi.org/10.1016/j.ymgme.2011.02.006

المؤلفون: Petra Oliva, Rena C. Baek, Alison McVie-Wylie, Kate Zhang, Kelly George, Monica Lane

المصدر: Molecular Genetics and Metabolism. 126:S59

مصطلحات موضوعية: Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, Cancer research, Biomarker (medicine), Medicine, Disease, business, Pathway analysis, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::99a6c67d0ee888b1df24f56088b9ccf5
https://doi.org/10.1016/j.ymgme.2018.12.136

المؤلفون: Haoyue Zhang, Y.T. Chen, Dwight D. Koeberl, Daniel K. Benjamin, Andrew Bird, Alison McVie-Wylie, Talmage T. Brown, Sarah P. Young, Baodong Sun

المصدر: Molecular Therapy. 14:822-830

مصطلحات موضوعية: Signal peptide, congenital, hereditary, and neonatal diseases and abnormalities, Recombinant Fusion Proteins, Genetic enhancement, Blotting, Western, Genetic Vectors, Protein Sorting Signals, Biology, Transfection, Article, Cell Line, Mice, chemistry.chemical_compound, Drug Discovery, Glycogen storage disease type II, Genetics, medicine, Animals, Humans, Glycogen storage disease, Secretion, Molecular Biology, Cells, Cultured, Mice, Knockout, Pharmacology, Glycogen, Glycogen Storage Disease Type II, nutritional and metabolic diseases, Genetic Therapy, Dependovirus, Fibroblasts, medicine.disease, Molecular biology, Treatment Outcome, chemistry, Cell culture, Molecular Medicine, Glucan 1,4-alpha-Glucosidase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cf4f81c4d8faf0acc949d28077d6874
https://doi.org/10.1016/j.ymthe.2006.08.001

المؤلفون: Canwen Jiang, Alison McVie-Wylie, Beth L. Thurberg, Xuemei Li, Yunxiang Zhu, Seng H. Cheng, Robert J. Mattaliano, Nina Raben

المصدر: Biochemical Journal. 389:619-628

مصطلحات موضوعية: Aging, Oligosaccharides, Mannose, Biochemistry, Receptor, IGF Type 2, Mice, chemistry.chemical_compound, Animals, Muscle, Skeletal, Receptor, Molecular Biology, chemistry.chemical_classification, Molecular Structure, Glycogen, Glycogen Storage Disease Type II, Chemistry, Myocardium, alpha-Glucosidases, Cell Biology, Enzyme replacement therapy, Carbohydrate, Oligosaccharide, Recombinant Proteins, Enzyme, Glucan 1,4-alpha-Glucosidase, Mannose receptor, Protein Binding, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d3c761e7e00749e45df5d94b236246
https://doi.org/10.1042/bj20050364

المؤلفون: Andrew A. Wylie, David J. Pulford, Alison McVie-Wylie, Yuan-Tsong Chen, Randy L. Jirtle, Terry C. Orton, Catherine M. Nolan, Heather K. Evans, Robert A. Waterland

المصدر: The American Journal of Pathology. 162:321-328

مصطلحات موضوعية: medicine.medical_specialty, T cell, Insulin-like growth factor 2 receptor, Kidney metabolism, Gene targeting, Biology, Pathology and Forensic Medicine, Cell biology, medicine.anatomical_structure, Endocrinology, Growth factor receptor, Internal medicine, Insulin-like growth factor 2, Conditional gene knockout, Knockout mouse, medicine, biology.protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::92ff2d9f76842fa35702b5a54ff1f00e
https://doi.org/10.1016/s0002-9440(10)63823-0

المؤلفون: Felicia Migone, Yuan-Tsong Chen, Delila Serra, E. Y. Ding, Andrea Amalfitano, D. Pressley, M. Mizutani, T. Kikuchi, T. Lawson, Alison McVie-Wylie

المصدر: The Journal of Gene Medicine. 5:399-406

مصطلحات موضوعية: medicine.medical_specialty, Time Factors, Blotting, Western, Genetic Vectors, Immunoblotting, Quail, Adenoviridae, chemistry.chemical_compound, Internal medicine, Lysosome, biology.animal, Drug Discovery, Gene expression, Genetics, medicine, Animals, Humans, Myocyte, Tissue Distribution, Secretion, Muscle, Skeletal, Molecular Biology, Genetics (clinical), Muscle Cells, Glycogen, biology, Muscles, Gene Transfer Techniques, Skeletal muscle, alpha-Glucosidases, Genetic Therapy, Disease Models, Animal, medicine.anatomical_structure, Endocrinology, Liver, chemistry, Acid alpha-glucosidase, Molecular Medicine, Glucan 1,4-alpha-Glucosidase, Lysosomes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8c043fac76ebd522f2d14dd4e4de6e7
https://doi.org/10.1002/jgm.355

المؤلفون: Kelly George, Monica Lane, Milca Mercado-Olivieri, Kate Zhang, M.A. Xiwen, Mahmud Hossain, Alison McVie-Wylie, Pavlina Wolf, Martha Stapels, Petra Oliva, Rena C. Baek

المصدر: Molecular Genetics and Metabolism. 123:S51

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Internal medicine, Genetics, medicine, Exploratory research, Disease, business, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::03e92ecf63d45f2b235e712581753304
https://doi.org/10.1016/j.ymgme.2017.12.119

المؤلفون: Sherry Langston, Neerja Gupta, James Weisfield-Adams, Marta Sabbadini, Zoheb B. Kazi, Sheela Nampoothiri, Seymour Packman, Diana Ballhausen, Priya S. Kishnani, Bradley Troxler, Jean-Marc Nuoffer, Alexandra Joseph, Marianne Rohrbach, Ankit K. Desai, Katalin Scherer, Susan M. Richards, Clarisa Maxit, Angelika Erwin, Annette Feigenbaum, Dmitriy Niyazov, Pranoot Tanpaiboon, William B. Rizzo, David Kronn, Alison McVie-Wylie, Crystal Sung, Omar A. Abdul-Rahman

المصدر: Molecular Genetics and Metabolism. 123:S38

مصطلحات موضوعية: 0301 basic medicine, business.industry, Endocrinology, Diabetes and Metabolism, Therapeutic protein, Disease, Biochemistry, Immune tolerance, 03 medical and health sciences, 030104 developmental biology, Endocrinology, Immunology, Genetics, medicine, Methotrexate, business, Molecular Biology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d33998ea4e908720c4093ce19601b17c
https://doi.org/10.1016/j.ymgme.2017.12.080

المؤلفون: Yuan-Tsong Chen, A.Resai Bengur, John Phillips, Russell E. Ware, Andrea Amalfitano, Joanne Mackey, Joseph M. Majure, Richard P. Morse, Wendy A. Smith, Edward H. Bossen, Priya S. Kishnani, Jennifer A. Sullivan, George E. Hoganson, Alison McVie-Wylie, G. Bradley Schaefer, Deborah L. Veerling, Joel Charrow, Laura E. Case

المصدر: Genetics in Medicine. 3:132-138

مصطلحات موضوعية: Cardiac function curve, medicine.medical_specialty, Skeletal muscle, Enzyme replacement therapy, Biology, Muscle disorder, medicine.disease, Molecular biology, Gastroenterology, medicine.anatomical_structure, Internal medicine, Glycogen storage disease type II, Acid alpha-glucosidase, medicine, Adverse effect, Alglucosidase alfa, Genetics (clinical), medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2857045ca45374a3946b9544e1c6eb1e
https://doi.org/10.1038/gim200127

المؤلفون: Andrea Amalfitano, A. Resai Bengur, Richard P. Morse, Joseph M. Majure, Laura E. Case, Deborah L. Veerling, Joanne Mackey, Priya Kishnani, Wendy Smith, Alison McVie-Wylie, Jennifer A. Sullivan, George E. Hoganson, John A. Phillips, G. Bradley Schaefer, Joel Charrow, Russell E. Ware, Edward H. Bossen, Yuan-Tsong Chen

المصدر: Genetics in Medicine. 3:132-138

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::da75704aad753e9c80fa1acf0bfcd6b5
https://doi.org/10.1097/00125817-200103000-00008

المؤلفون: Yuan-Tsong Chen, Alison McVie-Wylie, David R. Lamson

المصدر: Genomics. 72:113-117

مصطلحات موضوعية: Chromosomes, Artificial, Bacterial, Candidate gene, Monosaccharide Transport Proteins, endocrine system diseases, Molecular Sequence Data, Chromosomes, Human, Pair 20, Glucose Transport Proteins, Facilitative, Biology, Molecular cloning, Protein Structure, Secondary, Genetics, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Sugar transporter, Cloning, Molecular, Screening procedures, Nucleic acid sequence, Glucose transporter, nutritional and metabolic diseases, Physical Chromosome Mapping, Transmembrane domain, Diabetes Mellitus, Type 2, Biochemistry, Sequence motif, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::112b260f72bc117ad293599c30ee8df0
https://doi.org/10.1006/geno.2000.6457

المؤلفون: Alison McVie-Wylie, Thomas L. Dawson, Paul H. Plotz, Andrea Amalfitano, Nina Raben, Yuan-Tsong Chen, Hailiang Hu

المصدر: Proceedings of the National Academy of Sciences. 96:8861-8866

مصطلحات موضوعية: medicine.medical_specialty, Genetic enhancement, Genetic Vectors, Cytomegalovirus, Biology, Muscle disorder, medicine.disease_cause, Adenoviridae, Viral vector, Mice, chemistry.chemical_compound, Muscular Diseases, Internal medicine, Glycogen storage disease type II, Lysosomal storage disease, medicine, Animals, Humans, Muscle, Skeletal, Promoter Regions, Genetic, Myopathy, Mice, Knockout, Multidisciplinary, Glycogen, Glycogen Storage Disease Type II, alpha-Glucosidases, Genetic Therapy, Biological Sciences, medicine.disease, Genes, pol, Mice, Inbred C57BL, Endocrinology, Liver, chemistry, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04a0a700c82f09f1df9c1cc6c50ad399
https://doi.org/10.1073/pnas.96.16.8861

المؤلفون: Marta Sabbadini, Diana Ballhausen, Priya S. Kishnani, David Kronn, Seymour Packman, James D. Weisfeld-Adams, Bradley Troxler, Susan M. Richards, Marianne Rohrbach, Angelika Erwin, Alexandra Joseph, Omar A. Abdul-Rahman, Jean-Marc Nuoffer, Chris Makris, Katalyn Scherer, Ankit K. Desai, Alison McVie-Wylie, William B. Rizzo, Clarisa Maxit, Zoheb B. Kazi

المصدر: Molecular Genetics and Metabolism. 117:S65-S66

مصطلحات موضوعية: 0301 basic medicine, business.industry, Endocrinology, Diabetes and Metabolism, Disease, Pharmacology, Immune modulation, Low dose methotrexate, Biochemistry, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, 030225 pediatrics, Genetics, Medicine, business, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1434c25bc5b7f64966f26719514828c7
https://doi.org/10.1016/j.ymgme.2015.12.315

المؤلفون: Patrick Finn, Alison McVie-Wylie, Alida D'Angona, James Murray, Laura P. Andrews

المصدر: The FASEB Journal. 27

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Genetics, medicine, Enzyme replacement therapy, business, Molecular Biology, Biochemistry, Biotechnology, Surgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::834c60cdd4d098709a05b4b750173053
https://doi.org/10.1096/fasebj.27.1_supplement.1179.1

المؤلفون: Rick Gregory, Anne Marie D’Angona, Patrick Finn, Lucy Philips, Alison McVie-Wylie, Laura P. Andrews, Scott Lonning

المصدر: The FASEB Journal. 23

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Lung, biology, business.industry, Bleomycin, medicine.disease, Biochemistry, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Pulmonary fibrosis, Genetics, biology.protein, Medicine, business, Neutralizing antibody, Molecular Biology, Pathological, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4d1731e19e3c5717c21f8b04a8a7f1c7
https://doi.org/10.1096/fasebj.23.1_supplement.753.1