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: E. Matthews, C. Neuwirth, F. Jaffer, R. S: Scalco, D. Fialho, M. Parton, D. Raja Rayan, K. Suetterlin, R. Sud, R. Spiegel, R. Mein, H. Houlden, A. Schaefer, E. Healy, J. Palace, R. Quinlivan, S. Treves, J. L. Holton, H. Jungbluth, and M. G. Hanna

المساهمون: Matthews, E., Neuwirth, C., Jaffer, F., S: Scalco, R., Fialho, D., Parton, M., Raja Rayan, D., Suetterlin, K., Sud, R., Spiegel, R., Mein, R., Houlden, H., Schaefer, A., Healy, E., Palace, J., Quinlivan, R., Treves, S., Holton, J. L., Jungbluth, H., Hanna, and M. G.

مصطلحات موضوعية: Periodic paralysis, RYR, mutations

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29298851; info:eu-repo/semantics/altIdentifier/wos/WOS:000427799000008; volume:90; issue:5; firstpage:412; lastpage:418; numberofpages:7; journal:NEUROLOGY; http://hdl.handle.net/11392/2382647Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044070260; https://n.neurology.org/content/neurology/90/5/e412.full.pdfTest; https://n.neurology.org/content/90/5/e412Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000004894Test
http://hdl.handle.net/11392/2382647Test
https://n.neurology.org/content/neurology/90/5/e412.full.pdfTest
https://n.neurology.org/content/90/5/e412Test

المؤلفون: Emma Matthews, Michael G. Hanna, Jasper M. Morrow, I Skorupinska, Doreen Fialho, S. Veronica Tan, K. Suetterlin, Ana Ribeiro

المصدر: MusclenerveREFERENCES. 65(5)

مصطلحات موضوعية: 2019-20 coronavirus outbreak, medicine.medical_specialty, Physiology, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Hypokalemic Periodic Paralysis, Context (language use), Muscular Dystrophies, Paralyses, Familial Periodic, Cellular and Molecular Neuroscience, Physiology (medical), Internal medicine, medicine, Humans, Paralysis, In patient, Exercise, business.industry, Periodic paralysis, medicine.disease, Test (assessment), Phenotype, Cohort, Mann–Whitney U test, Exercise Test, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336659ebf4888f41c4f88fc2701f849dTest
https://pubmed.ncbi.nlm.nih.gov/35064932Test

المؤلفون: Roope Männikkö, Emma Matthews, Michael G. Hanna, Hugh Bostock, S. Veronica Tan, K. Suetterlin

المصدر: Clinical Neurophysiology. 131:816-827

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Refractory period, Hypokalemic Periodic Paralysis, Gating, 050105 experimental psychology, Membrane Potentials, Young Adult, 03 medical and health sciences, Sarcolemma, 0302 clinical medicine, Physiology (medical), Internal medicine, medicine, Humans, 0501 psychology and cognitive sciences, Ictal, Muscle, Skeletal, Aged, Membrane potential, Chemistry, Sodium channel, 05 social sciences, Periodic paralysis, Depolarization, Middle Aged, medicine.disease, Sensory Systems, Endocrinology, Neurology, Paramyotonia congenita, Female, Neurology (clinical), Paralysis, Hyperkalemic Periodic, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a52d08e1d6d71e7fc0a252cef1d24acTest
https://doi.org/10.1016/j.clinph.2019.12.414Test

المؤلفون: Emma Matthews, Dipa L. Raja Rayan, Michael G. Hanna, K. Suetterlin

المصدر: Expert Opinion on Orphan Drugs. 8:43-49

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, business.industry, Health Policy, Non dystrophic myotonia, Myotonic Disorder, Myotonia, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, Mexiletine, Cardiology, Medicine, Pharmacology (medical), business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::22546dc3f8bf0d1f8f922d643077cd1aTest
https://doi.org/10.1080/21678707.2020.1739519Test

المؤلفون: Joery P. Molenaar, Gaetano Vattemi, E. Kamsteeg, Benno Küsters, Damien Sternberg, Valeria Guglielmi, Amaia Martínez-Arroyo, K. Suetterlin, Corrie E. Erasmus, Barbara W. Brandom, Juergen Seeger, Susan Treves, Nicol C. Voermans, Thierry Kuntzer, Jérôme Franques, Mark E. Roberts, Roberto Fernández-Torrón, Frédéric Chevessier, Jamie I Verhoeven, Guillaume Bassez, Baziel G.M. van Engelen, Anthony Behin, Lucie Guyant-Maréchal, Richard J. Rodenburg, Savine Vicart, Jean Mathieu, Bruno Eymard, Armelle Magot, Michael G. Hanna, Yann Péréon, M.M.J. Snoeck

المصدر: Brain
Brain, 143, 2, pp. 452-466
Brain, 143, 452-466
Brain, vol. 143, no. 2, pp. 452-466

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Myotonia Congenita, phenotype, genotype, Calcium-Transporting ATPases/genetics, Child, Female, Humans, Muscle, Skeletal/metabolism, Muscle, Skeletal/physiopathology, Muscular Diseases/genetics, Mutation/genetics, Myotonia Congenita/genetics, Phenotype, Sarcoplasmic Reticulum/metabolism, Young Adult, ATP2A1, Brody disease, calcium, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Physical examination, Calcium-Transporting ATPases, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, 0302 clinical medicine, Atrophy, Muscular Diseases, Internal medicine, medicine, Myopathy, Muscle, Skeletal, Muscle contracture, Muscle biopsy, medicine.diagnostic_test, business.industry, Malignant hyperthermia, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Original Articles, Myotonia, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Editor's Choice, Sarcoplasmic Reticulum, 030104 developmental biology, Mutation, Neurology (clinical), medicine.symptom, Contracture, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aae815c34577eaee53ba8ee9644b0c8Test
http://europepmc.org/articles/PMC7009512Test

المؤلفون: Vino Vivekanandam, Natalie James, Roope Männikkö, Richa Sud, Emma Matthews, Doreen Fialho, Enrico Flossmann, Kostas Savvatis, Michael G. Hanna, Thomas D Gossios, K. Suetterlin

المصدر: Journal of neuromuscular diseases. 8(1)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Delayed Diagnosis, Ventricular Tachyarrhythmias, Heart block, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Andersen–Tawil syndrome, Internal medicine, Medicine, Humans, Atrioventricular Block, Andersen Syndrome, Kcnj2 gene, business.industry, Cardiac arrhythmia, Muscle weakness, Periodic paralysis, medicine.disease, 030104 developmental biology, Neurology, cardiovascular system, Cardiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6930285ca512411e60e8a3fa9f80783Test
https://pubmed.ncbi.nlm.nih.gov/33074188Test

المؤلفون: Miranda D. Grounds, S. Veronica Tan, K. Suetterlin, Linda Greensmith, Simon Eaton, Michael G. Hanna, Roope Männikkö, Emma Matthews, Avan Aihie Sayer, Michael Orford, Rahul Phadke

المصدر: JCSM Rapid Communications, Vol 4, Iss 2, Pp 245-259 (2021)

مصطلحات موضوعية: Transition (genetics), business.industry, Skeletal muscle, Periodic paralysis, medicine.disease, RC31-1245, Phenotype, Cell biology, medicine.anatomical_structure, Channelopathy, Ageing, Sarcopenia, Ion channels, Medicine, business, Internal medicine, Ion channel

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcc18bbad05776024641388acbde100fTest
https://pubmed.ncbi.nlm.nih.gov/35174322Test

المؤلفون: Michael G. Thor, Emma Matthews, Roope Männikkö, Vinojini Vivekanandam, Michael G. Hanna, Richa Sud, Marisol Sampedro-Castañeda, S. Durran, Stephanie Schorge, S. Veronica Tan, K. Suetterlin, Dimitri M. Kullmann

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Scientific Reports

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Arginine, Hypokalemic Periodic Paralysis, Sodium channels, lcsh:Medicine, medicine.disease_cause, Article, Myotonia, 03 medical and health sciences, 0302 clinical medicine, Hypokalemic periodic paralysis, Chloride Channels, Internal medicine, Humans, Medicine, NAV1.4 Voltage-Gated Sodium Channel, lcsh:Science, 030304 developmental biology, 0303 health sciences, Mutation, CLCN1, Multidisciplinary, biology, business.industry, Sodium channel, lcsh:R, High-Throughput Nucleotide Sequencing, Skeletal muscle, Neuromuscular disease, medicine.disease, HEK293 Cells, Endocrinology, medicine.anatomical_structure, Chloride channel, biology.protein, lcsh:Q, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e345fde8c25e9beb5bf280565fef62Test
https://doi.org/10.1038/s41598-019-54041-0Test

المؤلفون: Vinojini Vivekanandam, K. Suetterlin, N. James, Emma Matthews, Richa Sud, Michael G. Hanna, Doreen Fialho, Sarah J. Holmes

المصدر: Neurology: Clinical Practice
article-version (Version of Record) 3

مصطلحات موضوعية: medicine.medical_specialty, urogenital system, business.industry, Renal ultrasound, Case, urologic and male genital diseases, Ureteric obstruction, female genital diseases and pregnancy complications, medicine, Neurology (clinical), Radiology, Presentation (obstetrics), business, Acetazolamide, human activities, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::545b6dec068efc05d0c667672778c121Test
https://doi.org/10.1212/cpj.0000000000000761Test