-
1
المؤلفون: Clare Bartram, Joanne Phoenix, Richard H.T. Edwards, Pam Hopkins, Robert J. Beynon, Veronica Toescu, H. Gibson
المصدر: Muscle & Nerve. 18:S18-S22
مصطلحات موضوعية: Vitamin, medicine.medical_specialty, Phosphorylases, Physiology, Molecular Sequence Data, Cellular and Molecular Neuroscience, Glycogen phosphorylase, chemistry.chemical_compound, Physiology (medical), Molecular genetics, Internal medicine, medicine, Humans, Myopathy, Exercise, Fatigue, Subclinical infection, Base Sequence, business.industry, Pyridoxine, Skeletal muscle, Phenotype, Endocrinology, medicine.anatomical_structure, chemistry, Myophosphorylase, Mutation, Glycogen Storage Disease Type V, Neurology (clinical), medicine.symptom, business, Muscle Contraction, medicine.drug
-
2
المؤلفون: Clare Bartram, Robert J. Beynon, Richard H.T. Edwards, John E. Clague
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1226:341-343
مصطلحات موضوعية: Genetics, Base Sequence, Phosphorylases, Muscles, Molecular Sequence Data, Nonsense mutation, Exons, Biology, Molecular biology, Stop codon, Frameshift mutation, Exon, Glycogen phosphorylase, Myophosphorylase, Mutation (genetic algorithm), Glycogen Storage Disease Type V, Humans, Molecular Medicine, Amino Acid Sequence, Frameshift Mutation, Molecular Biology, Gene
-
3
المؤلفون: Clare Bartram, John E. Clague, Richard H.T. Edwards, Robert J. Beynon
المصدر: Human Molecular Genetics. 2:1291-1293
مصطلحات موضوعية: Phosphorylases, Molecular Sequence Data, Restriction Mapping, Nonsense mutation, Biology, medicine.disease_cause, Polymerase Chain Reaction, Exon, Glycogen phosphorylase, Genetics, medicine, Humans, Point Mutation, RNA, Messenger, Codon, Molecular Biology, Genetics (clinical), DNA Primers, Mutation, Base Sequence, Chromosomes, Human, Pair 11, Genetic Carrier Screening, Muscles, Point mutation, Chromosome Mapping, Exons, General Medicine, medicine.disease, Stop codon, Phenotype, Myophosphorylase, Glycogen Storage Disease Type V, Glycogen storage disease type V
-
4
المؤلفون: Clare Bartram, Richard H. T. Edwards, Joanne Phoenix, Robert J. Beynon, Pam Hopkins, Rosaline Quinlivan
المصدر: Neuromuscular disorders : NMD. 8(3-4)
مصطلحات موضوعية: Male, medicine.medical_specialty, Physiology, Disease, medicine, Humans, Muscle, Skeletal, Exercise, Genetics (clinical), Muscle Cramp, business.industry, Pyridoxine, Middle Aged, medicine.disease, Adductor pollicis muscle, Neurology, Pediatrics, Perinatology and Child Health, Dietary Supplements, Physical therapy, Physical Endurance, Glycogen Storage Disease Type V, Neurology (clinical), Vitamin b6, medicine.symptom, business, Glycogen storage disease type V, Muscle cramp, medicine.drug, DECREASED EXERCISE TOLERANCE
-
5
المؤلفون: Clare Bartram, William F. Beltz, N.J. Benevenga, Merrill D. Benson, Robert J. Benyon, R.C. Boston, Andrew J. Clifford, Stephen P. Coburn, T.D. Crenshaw, Annick Delaquis, Stephen R. Dueker, Richard H.T. Edwards, Richard P. Evershed, M.D. Finke, Angela Flannery, Harold C. Furr, M.J. Gahl, Timothy Garrow, Keith J. Goodman, Joanne Balmer Green, Michael H. Green, Jesse F. Gregory, P.C. Greif, Denise Hanes, Pamela Hopkins, Juei-Chuan Hsu, John A. Jacquez, Elsa M. Janle, Danita Saxon Kelley, Jong-Sang Kim, Richard B. King, Peter T. Kissinger, Deborah Leyland, Bi-Fong Lin, Karen Lowe, Christiane Malo, T. McNabb, L. Preston Mercer, Jill Murrell, Janet A. Novotny, Charles Osborne, Robert S. Parker, Joanne Phoenix, Pierre Proulx, Samir I. Sayegh, Arthur R. Schulz, Karen C. Scott, Barry Shane, Joy E. Swanson, Veronica Toescu, Jeffrey D. Turner, Yen-yi Wang, William W. Wong, Loren A. Zech, Hong Zhang, Zhen Zhang
-
6
المؤلفون: Pamela Hopkins, Robert J. Beynon, Clare Bartram, Joanne Phoenix, Richard P. Evershed, Angela V. Flannery, Veronica Toescu, Richard H. T. Edwards, Deborah M. Leyland
مصطلحات موضوعية: medicine.medical_specialty, Glycogenolysis, biology, Glycogen, Glycogen debranching enzyme, chemistry.chemical_compound, Glycogen phosphorylase, Endocrinology, chemistry, Biochemistry, Internal medicine, medicine, Glycogen branching enzyme, biology.protein, Pyridoxal phosphate, Glycogen synthase, Phosphorylase kinase
-
7
المؤلفون: Robert J. Beynon, Clare Bartram, Pamela Hopkins, Richard H. T. Edwards, Rosaline Quinlivan, Joanne Phoenix
المصدر: Neuromuscular Disorders. 7:448-449
مصطلحات موضوعية: Double blind, Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Disease, Vitamin b6, business, Crossover study, Genetics (clinical)
-
8
المؤلفون: Clare Bartram, Richard H. T. Edwards, Joanne Phoenix, Rosaline Quinlivan, Pamela Hopkins, Robert J. Beynon
المصدر: Neuromuscular Disorders. 7:448
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Disease, Vitamin b6, business, Genetics (clinical)
-
9
المؤلفون: Robert J. Beynon, Richard H.T. Edwards, Clare Bartram
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. (1):1-13
مصطلحات موضوعية: Phosphorylases, Molecular Sequence Data, Disease, medicine.disease_cause, Glycogen debranching enzyme, Glycogen phosphorylase, medicine, Animals, Humans, Glycolysis, Amino Acid Sequence, Muscle, Skeletal, Peptide sequence, Molecular Biology, Mutation, Base Sequence, Chemistry, Glycogen metabolism, Muscle glycolysis, medicine.disease, McArdle's disease, Biochemistry, Molecular Medicine, Glycogen Storage Disease Type V, Glycogen storage disease type V, Glycogen