المؤلفون: Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Eleonora Canioni, Emanuele Iosa, Lorenzo Maggi, Raffaella Brugnoni, Paolo Tacconi, Jean-Francois Desaphy

المساهمون: Campanale, Carmen, Laghetti, Paola, Saltarella, Ilaria, Altamura, Concetta, Canioni, Eleonora, Iosa, Emanuele, Maggi, Lorenzo, Brugnoni, Raffaella, Tacconi, Paolo, Desaphy, Jean-Francois

مصطلحات موضوعية: SCN4A gene, Sodium channel myotonia, electrophysiology, next-generation sequencing, short exercise test

Relation: info:eu-repo/semantics/altIdentifier/pmid/38427496; volume:11; issue:3; firstpage:725; lastpage:734; numberofpages:10; journal:JOURNAL OF NEUROMUSCULAR DISEASES; https://hdl.handle.net/11586/477084; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85192112219

الاتاحة: https://hdl.handle.net/11586/477084
https://doi.org/10.3233/jnd-230134

المؤلفون: Šiaurytė, Kamilė, Matulevičienė, Aušra, Cimbalistienė, Loreta, Morkūnienė, Aušra, Vaitkevičius, Arūnas, Utkus, Algirdas

المصدر: ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG), Berlin : European Society for Human Genetics (ESHG), 2020, abstract no. P10.38.C, p. [1]

مصطلحات موضوعية: CLCN1, SCN4A, myotonia congenita, paramyotonia congenita, sodium channel myotonia

Relation: http://vu.lvb.lt/VU:ELABAPDB72639694&prefLang=en_US

الاتاحة: http://vu.lvb.lt/VU:ELABAPDB72639694&prefLang=en_US

المؤلفون: Serena Pagliarani, Sabrina Lucchiari, Marina Scarlato, Elisa Redaelli, Anna Modoni, Francesca Magri, Barbara Fossati, Stefano C. Previtali, Valeria A. Sansone, Marzia Lecchi, Mauro Lo Monaco, Giovanni Meola, Giacomo P. Comi

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: myotonia, sodium channel myotonia, founder effect, channelopathy, Nav 1.4, mexiletine, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00255/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/c7a31aa7be364a4685451faa56264d52

المؤلفون: Jitpimolmard, N, Matthews, E, Fialho, D

المصدر: Current Treatment Options in Neurology , 22 (10) (2020)

مصطلحات موضوعية: Myotonia congenita, Sodium channel myotonia, Paramyotonia congenita, Periodic paralysis, Andersen-Tawil syndrome, Channelopathy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10108710/1/s11940-020-00644-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10108710/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10108710/1/s11940-020-00644-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10108710/

المؤلفون: Sara Pereira, Filipa Sampaio, José Alberto Lemos, Sérgia Soares, Ágata Mota

المصدر: Neuroophthalmology

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, CLCN1, Mutation, medicine.diagnostic_test, biology, business.industry, Case Report, Myotonia, medicine.disease, medicine.disease_cause, Bioinformatics, nervous system diseases, body regions, Ophthalmology, Exon, biology.protein, Medicine, Neurology (clinical), Family history, business, Gene, Sodium channel myotonia, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eef577c2d108ccbeb08d27ce40fcaa74
https://doi.org/10.1080/01658107.2020.1779316

المؤلفون: Emma Matthews, Doreen Fialho, Nantaporn Jitpimolmard

المصدر: Current Treatment Options in Neurology

مصطلحات موضوعية: medicine.medical_specialty, Paramyotonia congenita, Lamotrigine, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Channelopathy, Mexiletine, medicine, Intensive care medicine, Myotonia congenita, Safinamide, Neuromuscular Disorders (C Fournier, Section Editor), Andersen-Tawil syndrome, business.industry, Periodic paralysis, medicine.disease, Myotonia, 3. Good health, chemistry, 030220 oncology & carcinogenesis, Neurology (clinical), business, 030217 neurology & neurosurgery, Sodium channel myotonia, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef7d28cc50f2631ff77a1bd5b1ee08bf
https://pubmed.ncbi.nlm.nih.gov/32848354

المؤلفون: Matsumoto, Naohisa, Nishimoto, Rei, Matsuoka, Yoshikazu, Takeda, Yoshimasa, Morimatsu, Hiroshi

المصدر: JA Clinical Reports

مصطلحات موضوعية: Anesthetic management, Myotonia congenita, Nondystrophic myotonia, Paramyotonia congenita, Periodic paralysis, Potassium-aggravated myotonia, Skeletal muscle channelopathy, Sodium-channel myotonia

Relation: info:pmid/32026975; https://ousar.lib.okayama-u.ac.jp/files/public/5/58768/20200612130609962230/fulltext.pdf; https://ousar.lib.okayama-u.ac.jp/58768

الاتاحة: https://ousar.lib.okayama-u.ac.jp/files/public/5/58768/20200612130609962230/fulltext.pdf
https://ousar.lib.okayama-u.ac.jp/58768

المؤلفون: Gisa Ellrichmann, Christiane Schneider-Gold, Benedikt Schoser, Michael Sinnreich, Stefan Quasthoff, Frank Lehmann-Horn

المصدر: Aktuelle Neurologie. 45:167-177

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Myotonic dystrophy type 2, Steinert disease, Double blind, 03 medical and health sciences, 0302 clinical medicine, medicine, 030212 general & internal medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Sodium channel myotonia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::acdb46e8579a71a088ebb7084beed31d
https://doi.org/10.1055/s-0043-125352

المؤلفون: William F. Parsons, Hane Lee, Wayne W. Grody, Jihane N. Benhammou, Jennifer Phan, Joseph R. Pisegna, Kevin A. Ghassemi

المصدر: Journal of molecular neuroscience : MN, vol 61, iss 3
Benhammou, JN; Phan, J; Lee, H; Ghassemi, K; Parsons, W; Grody, WW; et al.(2017). A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant. JOURNAL OF MOLECULAR NEUROSCIENCE, 61(3), 312-314. doi: 10.1007/s12031-016-0878-5. UCLA: Retrieved from: http://www.escholarship.org/uc/item/62d240tt

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Missense, Intermittent dysphagia, 030105 genetics & heredity, Article, Myotonia, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Hypokalemic periodic paralysis, Internal medicine, medicine, Humans, Hyperkalemic periodic paralysis, NAV1.4 Voltage-Gated Sodium Channel, Muscle, Skeletal, Heterogeneous group, Neurology & Neurosurgery, business.industry, Sodium channel, Neurosciences, General Medicine, Skeletal, Syndrome, Dysphagia, Middle Aged, medicine.disease, Mutation, Cardiology, Potassium, Muscle, Female, Cognitive Sciences, medicine.symptom, Missense, business, Deglutition Disorders, SCN4A, 030217 neurology & neurosurgery, Sodium channel myotonia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::104ca9b84bffbaef3ede870bc879ba36
https://escholarship.org/uc/item/62d240tt

المؤلفون: Rei Nishimoto, Hiroshi Morimatsu, Naohisa Matsumoto, Yoshimasa Takeda, Yoshikazu Matsuoka

المصدر: JA Clinical Reports
JA Clinical Reports, Vol 5, Iss 1, Pp 1-4 (2019)

مصطلحات موضوعية: medicine.medical_specialty, Paramyotonia congenita, Case Report, Sodium-channel myotonia, Anesthetic management, lcsh:RD78.3-87.3, 03 medical and health sciences, 0302 clinical medicine, Nondystrophic myotonia, Potassium-aggravated myotonia, 030202 anesthesiology, Anesthesiology, medicine, Myotonia congenita, business.industry, fungi, lcsh:Medical emergencies. Critical care. Intensive care. First aid, Muscle weakness, Periodic paralysis, lcsh:RC86-88.9, Myotonia, medicine.disease, Anesthesiology and Pain Medicine, lcsh:Anesthesiology, Anesthesia, Skeletal muscle channelopathy, medicine.symptom, business, 030217 neurology & neurosurgery, Intercostal nerve block

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e434605456f4a675a7c605c29196392f
https://ousar.lib.okayama-u.ac.jp/58768

المؤلفون: Guy Laureys, E. Schmedding, Kathelijn Keymolen, Jacques De Keyser, Willy Lissens, Véronique Bissay

المساهمون: Department of Embryology and Genetics, Clinical sciences, Faculty of Medicine and Pharmacy, Internal Medicine Specializations, Neuroprotection & Neuromodulation

المصدر: Vrije Universiteit Brussel

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Amitriptyline, Sodium channel gene, Pain, Late onset, Sodium Channels, Myotonia, Belgium, L1436P, medicine, Humans, Age of Onset, NAV1.4 Voltage-Gated Sodium Channel, Genetics (clinical), Aged, Aged, 80 and over, Electromyography, business.industry, Sodium channel, Middle Aged, medicine.disease, Dermatology, nervous system diseases, Acetazolamide, Cold Temperature, body regions, Carbamazepine, Phenotype, Treatment Outcome, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Anticonvulsants, Female, cold-aggravated, Neurology (clinical), business, SCN4A, Sodium channel myotonia, sodium channel

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a82193f8d66662441ae0d50a236cd871
https://doi.org/10.1016/j.nmd.2011.05.006

المؤلفون: Lehmann-Horn, F., Orth, M., Kuhn, M., Jurkat-Rott, K.

المصدر: Acta Myologica

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Myotonia Congenita, Hyperkinesis, sodium channel myotonia, Severity of Illness Index, Sodium Channels, Segmental Duplications, Genomic, Chloride Channels, Humans, Paralysis, Muscle, Skeletal, Sequence Deletion, Muscle Weakness, Original Articles, chloride channel myotonia Thomsen and Becker, nervous system diseases, paramyotonia congenita, MLPA, Pedigree, body regions, Acetazolamide, potassiumaggravated myotonia, CLCN1, Hyperkalemia, Anticonvulsants, hyperkalemic periodic paralysis, Anti-Arrhythmia Agents

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b06f862c8fecedc0e89d151be4b49c55
http://europepmc.org/articles/PMC3235863

المؤلفون: Mankodi, Ami

مصطلحات موضوعية: sodium channel myotonia, nuclear inclusions, nondystrophic myotonia, myotonic dystrophy, myotonia congenita, myotonia, chloride channel myotonia, Alternative splicing

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1807/56199; http://www.bioline.org.br/abstract?id=ni08080; http://www.bioline.org.br/ni; http://www.neurologyindia.com

الاتاحة: http://hdl.handle.net/1807/56199
http://www.bioline.org.br/abstract?id=ni08080
http://www.bioline.org.br/ni
http://www.neurologyindia.com

المؤلفون: Pagliarani, S, Lucchiari, S, Scarlato, M, Redaelli, E, Modoni, A, Magri, F, Fossati, B, Previtali, S, Sansone, V, Lecchi, M, Lo Monaco, M, Meola, G, Comi, G, Pagliarani, Serena, Lucchiari, Sabrina, Scarlato, Marina, Redaelli, Elisa, Modoni, Anna, Magri, Francesca, Fossati, Barbara, Previtali, Stefano C, Sansone, Valeria A, Lecchi, Marzia, Lo Monaco, Mauro, Meola, Giovanni, Comi, Giacomo P

مصطلحات الفهرس: Nav 1.4, channelopathy, founder effect, mexiletine, myotonia, sodium channel myotonia, BIO/09 - FISIOLOGIA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/275052
https://www.frontiersin.org/articles/10.3389/fneur.2020.00255/full
info:eu-repo/semantics/altIdentifier/pmid/32411069
info:eu-repo/semantics/altIdentifier/wos/WOS:000556708600001
volume:11
firstpage:1
lastpage:9
numberofpages:9
journal:FRONTIERS IN NEUROLOGY