المؤلفون: Vinojini Vivekanandam, Roope Männikkö, Iwona Skorupinska, Louise Germain, Belinda Gray, Sarah Wedderburn, Damian Kozyra, Richa Sud, Natalie James, Sarah Holmes, Konstantinos Savvatis, Doreen Fialho, Ashirwad Merve, Jatin Pattni, Maria Farrugia, Elijah R Behr, Chiara Marini-Bettolo, Michael G Hanna, Emma Matthews

المصدر: Brain. 145:2108-2120

مصطلحات موضوعية: Andersen Syndrome, Electrocardiography, Phenotype, Mutation, Humans, Genetic Testing, Neurology (clinical), Morbidity

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b9cecda6fd9df64264ca0885fddd89cTest
https://doi.org/10.1093/brain/awab445Test

المؤلفون: Dimitri M. Kullmann, Mary G. Sweeney, Andrea Haworth, Richa Sud, S. McCall, Roope Männikkö, K. Suetterlin, Dipa Jayaseelan, Emma Matthews, James Burge, Stephanie Schorge, Doreen Fialho, Michael G. Hanna

المصدر: Brain. 145:607-620

مصطلحات موضوعية: Proband, CLCN1, Myotonia Congenita, biology, Myotonia congenita, Genetic counseling, Inheritance (genetic algorithm), Computational biology, medicine.disease, Myotonia, Phenotype, Chloride Channels, Mutation, biology.protein, medicine, Humans, Neurology (clinical), Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a76a7b88fa5905d1062ef0d1c63167a0Test
https://doi.org/10.1093/brain/awab344Test

المؤلفون: Doreen, Fialho, Robert C, Griggs, Emma, Matthews

المصدر: Handbook of clinical neurology. 148

مصطلحات موضوعية: Mutation, Humans, Genetic Predisposition to Disease, Ion Channels, Paralyses, Familial Periodic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::bb46efe59e03e425c02cc70201efc03fTest
https://pubmed.ncbi.nlm.nih.gov/29478596Test

المؤلفون: Emma, Matthews, Christoph, Neuwirth, Fatima, Jaffer, Renata S, Scalco, Doreen, Fialho, Matt, Parton, Dipa, Raja Rayan, Karen, Suetterlin, Richa, Sud, Roland, Spiegel, Rachel, Mein, Henry, Houlden, Andrew, Schaefer, Estelle, Healy, Jacqueline, Palace, Ros, Quinlivan, Susan, Treves, Janice L, Holton, Heinz, Jungbluth, Michael G, Hanna

المصدر: Neurology

مصطلحات موضوعية: Male, Electromyography, Ryanodine Receptor Calcium Release Channel, Myalgia, Middle Aged, musculoskeletal system, Evoked Potentials, Motor, Magnetic Resonance Imaging, Article, Paralyses, Familial Periodic, Phenotype, Mutation, Humans, Female, Muscle, Skeletal, tissues

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::42f7d200995c145f3ac0a7bcbdce257aTest
https://pubmed.ncbi.nlm.nih.gov/29298851Test

المؤلفون: David Hilton-Jones, Mark R. Davis, Lucy Feng, Matt Parton, Phillipa J. Lamont, Ros Quinlivan, Adnan Y. Manzur, M. Desikan, William Wallefeld, Renata S Scalco, Gianina Ravenscroft, Henry Houlden, Heinz Jungbluth, Janice L. Holton, Rita Barresi, Julie Marsh, Anthony H.V. Schapira, Michael G. Hanna, Nigel G. Laing, A. Gardiner, Chris Turner, Robert D S Pitceathly, Kate Bushby, Anne-Marie Childs, Rahul Phadke, Doreen Fialho, Elaine Murphy

المصدر: Scalco, R S, Gardiner, A R, Pitceathly, R D S, Hilton-Jones, D, Schapira, A H, Turner, C, Parton, M, Desikan, M, Barresi, R, Marsh, J, Manzur, A Y, Childs, A-M, Feng, L, Murphy, E, Lamont, P J, Ravenscroft, G, Wallefeld, W, Davis, M R, Laing, N G, Holton, J L, Fialho, D, Bushby, K, Hanna, M G, Phadke, R, Jungbluth, H, Houlden, H & Quinlivan, R 2016, ' CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies ', Neuromuscular Disorders, vol. 26, no. 8, pp. 504-510 . https://doi.org/10.1016/j.nmd.2016.05.006Test

مصطلحات موضوعية: 0301 basic medicine, myalgia, Adult, Male, medicine.medical_specialty, Adolescent, Caveolin 3, Exercise intolerance, Rhabdomyolysis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Genetic predisposition, Humans, Exercise Intolerance, Myopathy, Child, Dystroglycans, Muscle, Skeletal, Exercise, Genetics (clinical), Aged, 80 and over, Exercise Tolerance, business.industry, Myoglobinuria, Skeletal muscle, Myalgia, Middle Aged, medicine.disease, Surgery, 030104 developmental biology, medicine.anatomical_structure, Phenotype, Neurology, CAV3, Pediatrics, Perinatology and Child Health, Mutation, Female, Neurology (clinical), medicine.symptom, business, Caveolinopathy, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy, Muscle Contraction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb4206a9c75fb9afb2f63425303beffbTest
https://kclpure.kcl.ac.uk/ws/files/52005604/1_s2.0_S0960896616300827_main.pdfTest

المؤلفون: Gavin Hudson, Hanns Lochmüller, Fabrizio Salvi, Anu Suomalainen, Johannes A. Mayr, Patrick F. Chinnery, Eleonora Lamantea, N Futterer, Roger D. Santer, Robert McFarland, M Zeviani, Marketa Tesarova, Peter Freisinger, Doreen Fialho, Robert W. Taylor, Michael G. Hanna, Jiri Zeman, Gianfrancesco Ferrari, Douglass M. Turnbull, Holger Prokisch, Sofia Ahola, Ramesh, Thomas Klopstock, Bjarne Udd, Rita Horvath

المصدر: Brain. 129:1674-1684

مصطلحات موضوعية: Male, Ophthalmoplegia, Chronic Progressive External, Mitochondrial Diseases, DNA-Directed DNA Polymerase, DGUOK, medicine.disease_cause, Compound heterozygosity, Nervous System, Genotype-phenotype distinction, Gene Frequency, Age of Onset, Child, Polymerase, Genetics, Mutation, Ophthalmoplegia, mtDNA, Polymerase gamma, Middle Aged, Mitochondrial DNA, Mitochondrial, DNA Polymerase gamma, Phenotype, Child, Preschool, Heredodegenerative Disorders, Nervous System, Female, Heredodegenerative Disorders, Adult, Adolescent, Biology, DNA, Mitochondrial, Sex Factors, Mitochondrial Encephalomyopathies, Chronic progressive external ophthalmoplegia, medicine, Humans, Preschool, Gene, Infant, Diffuse Cerebral Sclerosis of Schilder, DNA, medicine.disease, Alpers syndrome, Chronic Progressive External, biology.protein, Neurology (clinical), Mitochondrial encephalopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0f92a355a84325e90148b09a87db33Test
https://doi.org/10.1093/brain/awl088Test

المؤلفون: Andrew M. Schaefer, Gavin Hudson, Langping He, Robert W. Taylor, Patrick F. Chinnery, Marcus Deschauer, Doreen Fialho, Douglass M. Turnbull, Emma L. Blakely, Michael G. Hanna

المصدر: Neurology. 66:1439-1441

مصطلحات موضوعية: Male, Ophthalmoplegia, Chronic Progressive External, Mitochondrial DNA, DNA Mutational Analysis, Molecular Sequence Data, DNA Primase, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, DNA, Mitochondrial, Polymerase Chain Reaction, Cohort Studies, Mitochondrial Proteins, chemistry.chemical_compound, Computer Systems, Germany, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Amino Acid Sequence, False Negative Reactions, Gene, Sequence Deletion, Genetics, Mutation, Sequence Homology, Amino Acid, External ophthalmoplegia, Multiple mitochondrial DNA deletions, Point mutation, DNA Helicases, Adenine Nucleotide Translocator 1, Mitochondrial Myopathies, Phenotype, United Kingdom, DNA Polymerase gamma, Blotting, Southern, Amino Acid Substitution, chemistry, Female, Neurology (clinical), Sequence Alignment, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7852b3dbb7c6d8f82350d89c765f6985Test
https://doi.org/10.1212/01.wnl.0000210486.32196.24Test

المؤلفون: Emma Matthews, Jeffrey Statland, Richard J. Barohn, Robert C. Griggs, Dipa L. Raja Rayan, Michael G. Hanna, Stephen C. Cannon, Shannon L. Venance, Jaya Trivedi, Yunxia Wang, Anthony A. Amato, Mohammad Salajegheh, Nina Gorham, Laura Herbelin, Brian N. Bundy, Doreen Fialho, James C. Cleland

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, medicine.medical_specialty, International Cooperation, Mexiletine, Handgrip myotonia, Myotonic dystrophy, Myotonia, Cohort Studies, Physical medicine and rehabilitation, Chloride Channels, Internal medicine, medicine, Humans, Muscle Strength, NAV1.4 Voltage-Gated Sodium Channel, Exercise, Retrospective Studies, Neurologic Examination, Voltage-Gated Sodium Channel Blockers, CLCN1, Muscle Weakness, biology, Paradoxical myotonia, business.industry, Electrodiagnosis, Muscle weakness, RNA-Binding Proteins, Periodic paralysis, Original Articles, Middle Aged, medicine.disease, Mutation, biology.protein, Quality of Life, Female, Neurology (clinical), medicine.symptom, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74a1686f28f89f2cd46d6b9be72c82ceTest
https://europepmc.org/articles/PMC3692030Test/

المؤلفون: J. Burge, Doreen Fialho, Emma Matthews, Dipa L. Raja Rayan, Mary B. Davis, Alejandro Horga, Michael G. Hanna, S. Durran, Richa Sud, Simona Portaro, A Haworth

المصدر: Neurology. 80(16)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hypokalemic Periodic Paralysis, Sodium Channels, Article, Myotonia, Paralyses, Familial Periodic, Channelopathy, Hypokalemic periodic paralysis, Muscular Diseases, Chloride Channels, Internal medicine, Databases, Genetic, medicine, Prevalence, Humans, Hyperkalemic periodic paralysis, NAV1.4 Voltage-Gated Sodium Channel, Potassium Channels, Inwardly Rectifying, Muscle, Skeletal, CLCN1, biology, Myotonia congenita, business.industry, Periodic paralysis, Middle Aged, medicine.disease, United Kingdom, Endocrinology, England, Paramyotonia congenita, Data Interpretation, Statistical, Mutation, biology.protein, Channelopathies, Female, Neurology (clinical), business, Paralysis, Hyperkalemic Periodic, Myotonic Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc8be84c63d71e11a8ad04dc922ef8cbTest
https://pubmed.ncbi.nlm.nih.gov/23516313Test

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