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المؤلفون: Meriel McEntagart, Richa Sud, P. Lunt, Doreen Fialho, Michael G. Hanna, Stephanie Schorge, Simona Portaro, Emma Matthews, A Haworth, Antonio Toscano, J. Burge, D.L. Raja Rayan, Mary B. Davis, Kiki Tuin
المصدر: Neurology. 78(24)
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, Genotype, Myotonia Congenita, medicine.disease_cause, Exon, Chloride Channels, Gene duplication, medicine, Humans, Copy-number variation, Genetic Testing, Sequence Deletion, Genetics, CLCN1, Mutation, biology, Base Sequence, Myotonia congenita, Point mutation, Exons, Articles, Myotonia, medicine.disease, Molecular biology, biology.protein, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96217397083944813dc4721c260dd68bTest
https://pubmed.ncbi.nlm.nih.gov/22649220Test -
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المؤلفون: Jasper M. Morrow, Michael G. Hanna, Doreen Fialho, Enrico Bugiardini, K. Suetterlin, Juan Pablo Kaski, Emma Matthews
المصدر: JAMA Neurology. 72:1531
مصطلحات موضوعية: Male, Mexiletine, Electrocardiography, Skeletal pathology, Channelopathy, Chloride Channels, Humans, Medicine, Longitudinal Studies, NAV1.4 Voltage-Gated Sodium Channel, Muscle, Skeletal, Randomized Controlled Trials as Topic, Voltage-Gated Sodium Channel Blockers, Dose-Response Relationship, Drug, business.industry, Skeletal muscle, Myotonia, medicine.disease, Clinical neurology, medicine.anatomical_structure, Anesthesia, Mutation, Channelopathies, Female, Neurology (clinical), Long term safety, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::346f99a6397e0783e64ea1cea4f46d9aTest
https://doi.org/10.1001/jamaneurol.2015.2338Test -
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المؤلفون: J. Burge, Martin Koltzenburg, Emma Matthews, Michael G. Hanna, S. Veronica Tan, Melissa Barber, A Haworth, Richa Sud, Doreen Fialho, Sanjeev Rajakulendran
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Physical exercise, Electromyography, Article, Physical medicine and rehabilitation, Skeletal pathology, medicine, Humans, In patient, Muscle, Skeletal, Genetic testing, Aged, Muscle Weakness, medicine.diagnostic_test, business.industry, Extramural, Muscle weakness, Middle Aged, Neurology, Exercise Test, Channelopathies, Female, Neurology (clinical), medicine.symptom, business, Myotonic Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97e2f8f9fb596c88a1dc8eed64ffa7fbTest
https://europepmc.org/articles/PMC3051421Test/ -
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المؤلفون: Doreen, Fialho, Michael G, Hanna
المصدر: Handbook of clinical neurology. 86
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::03c65060d44552f9b385cb162601db4eTest
https://pubmed.ncbi.nlm.nih.gov/18808996Test -
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المصدر: Neuromuscular disorders : NMD. 18(11)
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Patch-Clamp Techniques, Myotonia Congenita, Xenopus, Biology, medicine.disease_cause, Membrane Potentials, Sex Factors, Chloride Channels, Internal medicine, medicine, Animals, Testosterone, Receptor, Electrodes, Genetics (clinical), Cells, Cultured, Progesterone, Mutation, urogenital system, Myotonia congenita, Skeletal muscle, medicine.disease, biology.organism_classification, Electrophysiology, Endocrinology, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Chloride channel, Mutagenesis, Site-Directed, Oocytes, Female, Neurology (clinical), Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5f4d8e513ddefc8095630e58b846070Test
https://pubmed.ncbi.nlm.nih.gov/18815035Test -
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المؤلفون: Michael G. Hanna, Richa Sud, Gabriel Cea, E. Stanley, A Haworth, Mary B. Davis, Mary G. Sweeney, Doreen Fialho, S.V. Tan, Emma Matthews
المصدر: Neurology. 70(1)
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Proline, Myotonic Disorder, Neural Conduction, Action Potentials, medicine.disease_cause, Arginine, Sodium Channels, Cohort Studies, Leucine, Internal medicine, medicine, Humans, Myotonia permanens, Allele, NAV1.4 Voltage-Gated Sodium Channel, Genetics, Mutation, business.industry, Genetic heterogeneity, Periodic paralysis, Exons, medicine.disease, Myotonia, United Kingdom, Paramyotonia congenita, Female, Neurology (clinical), business, Myotonic Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f3d2ad716f98b29d4847a2f5a6e431Test
https://pubmed.ncbi.nlm.nih.gov/18166706Test -
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المؤلفون: Dimitri M. Kullmann, Michael G. Hanna, A. Haworth, E. Stanley, R. Labrum, M. B. Davis, R. Sud, Doreen Fialho, N. P. Davies, U. Pucovska, Stephanie Schorge, W. Wakeling
المصدر: Brain : a journal of neurology. 130(Pt 12)
مصطلحات موضوعية: Male, Myotonia Congenita, DNA Mutational Analysis, Dominant-Negative Mutation, Cohort Studies, Exon, Channelopathy, Chloride Channels, medicine, Humans, Genetic Testing, Genes, Dominant, Genetics, CLCN1, biology, Myotonia congenita, Genetic heterogeneity, Exons, medicine.disease, Myotonia, Penetrance, Mutation, biology.protein, Mutagenesis, Site-Directed, Female, Neurology (clinical), Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffdca1079a04249638deaa6de9b7743eTest
https://pubmed.ncbi.nlm.nih.gov/17932099Test -
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المؤلفون: Y C Chan, Kerry R. Mills, David Allen, Richard A. C. Hughes, Doreen Fialho
مصطلحات موضوعية: Male, medicine.medical_specialty, Neuromuscular disease, Adolescent, medicine.medical_treatment, Short Report, Anti-Inflammatory Agents, Neural Conduction, Internal medicine, medicine, Humans, Retrospective Studies, business.industry, Multiple sclerosis, Immunoglobulins, Intravenous, Polyradiculoneuropathy, Retrospective cohort study, Immunotherapy, medicine.disease, Prognosis, Response to treatment, Surgery, Psychiatry and Mental health, Peripheral neuropathy, Treatment Outcome, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Female, Neurology (clinical), business, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af512363d8e6ab014f162468aedc95aTest
https://europepmc.org/articles/PMC2117406Test/ -
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المؤلفون: Michael Rose, M. Thomas, Frank Lehmann-Horn, A Weber, Paola Giunti, Patrick F. Chinnery, Adnan Y. Manzur, Colin Herd, Dimitri M. Kullmann, N. P. Davies, Doreen Fialho, R Mueller, L. M. Parsons, Michael G. Hanna, David Hilton-Jones, Paola Imbrici, Lynsey G. Bilsland, Karin Jurkat-Rott, B. R. Boothman, J. Ealing
المصدر: Neurology. 65(7)
مصطلحات موضوعية: Proband, Adult, Male, Potassium Channels, Adolescent, DNA Mutational Analysis, Biology, medicine.disease_cause, DNA sequencing, Xenopus laevis, Andersen–Tawil syndrome, medicine, Animals, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele, Potassium Channels, Inwardly Rectifying, Child, Genetic testing, Genetics, Andersen Syndrome, Mutation, medicine.diagnostic_test, Tooth Abnormalities, Infant, Periodic paralysis, medicine.disease, Phenotype, Kidney Tubules, Child, Preschool, Oocytes, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e632379ef9abdb1f50ec69ac3a2a5b46Test
http://ora.ox.ac.uk/objects/uuid:7fd048ff-d808-4aed-8358-291563d63935Test