المؤلفون: Morgan Ricks, Warren Lake, Trent Jackman

المصدر: International Journal of Physiotherapy, Vol 10, Iss 1 (2023)

مصطلحات موضوعية: Physical Therapy, Paramyotonia Congenita, Rehabilitation, Intervention, SCN4A gene mutation., Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://ijphy.com/index.php/journal/article/view/1304; https://doaj.org/toc/2349-5987; https://doaj.org/toc/2348-8336

URL الوصول: https://doaj.org/article/b2399b2d0d5b43eb902c385877088b42

المؤلفون: Zhi Zhang, Banghui Xiao

المصدر: Frontiers in Neurology, Vol 13 (2023)

مصطلحات موضوعية: hypokalemic periodic paralysis, SCN4A gene, thyrotoxic periodic paralysis, hyperthyroidism, therapy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1078784/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/1d9fd67e5412477e8193a2d7ae3ae24c

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: Lorenzo Maggi, Emma Matthews, Jean-François Desaphy

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: SCN4A gene, CLCN1 gene, CACNA1S, myotonia, periodic paralysis, channelopathies, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.626772/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/3945ef2b7ea8400fb64fb4aaf554d8a3

المؤلفون: Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: myotonia, periodic paralysis, SNEL, channelopathies, voltage-gated sodium channel NaV1.4, SCN4A gene mutation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00646/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/1a3f02ad30c0483c9785aa5d4fd702c8

المؤلفون: Maggi, L, Matthews, E, Desaphy, J-F

المصدر: Frontiers in Neurology , 11 , Article 626772. (2020)

مصطلحات موضوعية: CACNA1S, CLCN1 gene, SCN4A gene, channelopathies, myotonia, periodic paralysis

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10119271/1/fneur-11-626772.pdf; https://discovery.ucl.ac.uk/id/eprint/10119271/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10119271/1/fneur-11-626772.pdf
https://discovery.ucl.ac.uk/id/eprint/10119271/

المؤلفون: Matthews, E, Silwal, A, Sud, R, Hanna, MG, Manzur, AY, Muntoni, F, Munot, P

المصدر: Journal of Pediatrics , 188 181-185.e6. (2017)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Pediatrics, HYPERKALEMIC PERIODIC PARALYSIS, NEONATAL EPISODIC LARYNGOSPASM, SODIUM-CHANNEL GENE, MYOTONIA-CONGENITA, SCN4A GENE, PARAMYOTONIA-CONGENITA, ANDERSENS-SYNDROME, MUTATION, PHENOTYPE, DIAGNOSIS

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10051641/1/Matthews%20children%20with%20muscle%20channelopathies%20post%20review%2030%2003%202017.pdf; https://discovery.ucl.ac.uk/id/eprint/10051641/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10051641/1/Matthews%20children%20with%20muscle%20channelopathies%20post%20review%2030%2003%202017.pdf
https://discovery.ucl.ac.uk/id/eprint/10051641/

المؤلفون: Wei Zhang, Junhong Guo, Shan Huang, Xueli Chang

المصدر: Channels

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Biophysics, Gene mutation, Biochemistry, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Hyperkalemic periodic paralysis, NAV1.4 Voltage-Gated Sodium Channel, Genetics, SCN4A gene, business.industry, hypokalemic periodic paralysis type 2, Periodic paralysis, medicine.disease, paramyotonia congenita, Pedigree, 030104 developmental biology, Paramyotonia congenita, Mutation, business, hyperkalemic periodic paralysis, Paralysis, Hyperkalemic Periodic, 030217 neurology & neurosurgery, Research Paper, Myotonic Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f15fb1bc7d44ea70a075637e30229e92
http://europepmc.org/articles/PMC6527082

المؤلفون: Brugnoni, Raffaella, Maggi, Lorenzo, Canioni, Eleonora, Verde, Federico, Gallone, Annamaria, Ariatti, Alessandra, Filosto, Massimiliano, Petrelli, Cristina, Logullo, Francesco Ottavio, Esposito, Marcello, Ruggiero, Lucia, Tonin, Paola, Riguzzi, Pietro, Pegoraro, Elena, Torri, Francesca, Ricci, Giulia, Siciliano, Gabriele, Silani, Vincenzo, Merlini, Luciano, De Pasqua, Silvia, Liguori, Rocco, Pini, Antonella, Mariotti, Caterina, Moroni, Isabella, Imbrici, Paola, Desaphy, Jean-Francois, Mantegazza, Renato, Bernasconi, Pia

المساهمون: Brugnoni, Raffaella, Maggi, Lorenzo, Canioni, Eleonora, Verde, Federico, Gallone, Annamaria, Ariatti, Alessandra, Filosto, Massimiliano, Petrelli, Cristina, Logullo, Francesco Ottavio, Esposito, Marcello, Ruggiero, Lucia, Tonin, Paola, Riguzzi, Pietro, Pegoraro, Elena, Torri, Francesca, Ricci, Giulia, Siciliano, Gabriele, Silani, Vincenzo, Merlini, Luciano, De Pasqua, Silvia, Liguori, Rocco, Pini, Antonella, Mariotti, Caterina, Moroni, Isabella, Imbrici, Paola, Desaphy, Jean-Francoi, Mantegazza, Renato, Bernasconi, Pia

مصطلحات موضوعية: CLCN1 gene, Next-generation sequencing, Non-dystrophic myotonias, Periodic paralyses, SCN4A gene, Skeletal muscle channelopathies

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33573884; info:eu-repo/semantics/altIdentifier/wos/WOS:000641136000008; volume:31; issue:3; firstpage:336; lastpage:347; numberofpages:12; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11562/1036532; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100757825; https://doi.org/10.1016/j.nmd.2020.12.003

الاتاحة: http://hdl.handle.net/11562/1036532
https://doi.org/10.1016/j.nmd.2020.12.003

المؤلفون: Brugnoni, Raffaella, Canioni, Eleonora, Filosto, Massimiliano, Pini, Antonella, Tonin, Paola, Rossi, Tommaso, Canavese, Carlotta, Eoli, Marica, Siciliano, Gabriele, Lauria, Giuseppe, Mantegazza, Renato, Maggi, Lorenzo

المساهمون: R. Brugnoni, E. Canioni, M. Filosto, A. Pini, P. Tonin, T. Rossi, C. Canavese, M. Eoli, G. Siciliano, G. Lauria, R. Mantegazza, L. Maggi

مصطلحات موضوعية: CACNA1S and SCN4A gene, hypokalemic periodic paralysi, next-generation sequencing, Sanger method, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/34608571; info:eu-repo/semantics/altIdentifier/wos/WOS:000703365200001; journal:NEUROGENETICS; http://hdl.handle.net/2434/873271; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116361371

الاتاحة: http://hdl.handle.net/2434/873271
https://doi.org/10.1007/s10048-021-00673-2

المؤلفون: Lorenzo Maggi, Emma Matthews, Jean-François Desaphy

المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: periodic paralysis, SCN4A gene, CACNA1S, Field (physics), business.industry, Skeletal muscle, Periodic paralysis, CLCN1 gene, medicine.disease, Myotonia, channelopathies, lcsh:RC346-429, medicine.anatomical_structure, Editorial, myotonia, Neurology, Medicine, Neurology (clinical), business, Neuroscience, lcsh:Neurology. Diseases of the nervous system

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f83f9ebcc9657c15b1724bab5bcecc21
http://europepmc.org/articles/PMC7774510

المؤلفون: Isabella Moroni, Marcello Esposito, Annamaria Gallone, Francesco Logullo, Federico Verde, Jean-François Desaphy, Luciano Merlini, Antonella Pini, Giulia Ricci, Francesca Torri, Alessandra Ariatti, Paola Tonin, Massimiliano Filosto, Silvia de Pasqua, Rocco Liguori, Pia Bernasconi, Renato Mantegazza, Lorenzo Maggi, Gabriele Siciliano, Eleonora Canioni, Raffaella Brugnoni, Vincenzo Silani, Caterina Mariotti, Elena Pegoraro, Paola Imbrici, Lucia Ruggiero, Pietro Riguzzi, Cristina Petrelli

المساهمون: Brugnoni R., Maggi L., Canioni E., Verde F., Gallone A., Ariatti A., Filosto M., Petrelli C., Logullo F.O., Esposito M., Ruggiero L., Tonin P., Riguzzi P., Pegoraro E., Torri F., Ricci G., Siciliano G., Silani V., Merlini L., De Pasqua S., Liguori R., Pini A., Mariotti C., Moroni I., Imbrici P., Desaphy J.-F., Mantegazza R., Bernasconi P., Brugnoni, R., Maggi, L., Canioni, E., Verde, F., Gallone, A., Ariatti, A., Filosto, M., Petrelli, C., Logullo, F. O., Esposito, M., Ruggiero, L., Tonin, P., Riguzzi, P., Pegoraro, E., Torri, F., Ricci, G., Siciliano, G., Silani, V., Merlini, L., De Pasqua, S., Liguori, R., Pini, A., Mariotti, C., Moroni, I., Imbrici, P., Desaphy, J. -F., Mantegazza, R., Bernasconi, P.

المصدر: Neuromuscular disorders : NMD. 31(4)

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Chloride Channel, Skeletal muscle channelopathies, Cohort Studies, 0302 clinical medicine, Retrospective Studie, 80 and over, NAV1.4 Voltage-Gated Sodium Channel, Child, Genetics (clinical), Aged, 80 and over, SCN4A gene, Skeletal muscle channelopathie, High-Throughput Nucleotide Sequencing, Skeletal, CLCN1 gene, Middle Aged, medicine.anatomical_structure, Next-generation sequencing, Non-dystrophic myotonias, Periodic paralyses, Adolescent, Adult, Aged, Channelopathies, Chloride Channels, Female, Humans, Italy, Muscle, Skeletal, Mutation, Paralyses, Familial Periodic, Retrospective Studies, Young Adult, Neurology, Muscle, Human, Single gene, Computational biology, Biology, DNA sequencing, Channelopathie, 03 medical and health sciences, Paralyses, medicine, Gene, Periodic paralyse, Non-dystrophic myotonia, CLCN1, Heterogeneous group, Familial Periodic, Skeletal muscle, Large cohort, 030104 developmental biology, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), Cohort Studie, 030217 neurology & neurosurgery

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92f122ef36a0b70cb6e64f6392b91a9b
https://pubmed.ncbi.nlm.nih.gov/33573884

المؤلفون: Links, T.P., Ginjaar, H.B., Van Der Hoeven, J.H.

المصدر: Links , T P , Ginjaar , H B & Van Der Hoeven , J H 2004 , ' Van gen naar ziekte; hypokaliëmische periodieke paralyse ' , Nederlands Tijdschrift voor Geneeskunde , vol. 148 , no. 21 , pp. 1035-1038 . < https://www.ntvg.nl/artikelen/van-gen-naar-ziekte-hypokali%C3%ABmische-periodieke-paralyse >

مصطلحات موضوعية: acetazolamide, arginine, calcium channel, histidine, potassium, sodium channel, amino acid substitution, article, autosomal dominant disorder, CACNA1S gene, gene, gene location, gene mutation, human, hypokalemia, hypokalemic periodic paralysis, missense mutation, muscle weakness, SCN4A gene, treatment outcome

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/3958690c-82f0-4c3d-9dfd-a6d7558629e0
https://research.rug.nl/en/publications/3958690c-82f0-4c3d-9dfd-a6d7558629e0
https://pure.rug.nl/ws/files/1140560616/Van_gen_naar_ziekte_hypokali_mische_periodieke_paralyse.pdf
https://www.ntvg.nl/artikelen/van-gen-naar-ziekte-hypokali%C3%ABmische-periodieke-paralyse

المؤلفون: Lorenzo Maggi, Sabrina Ravaglia, Diana Conte Camerino, Concetta Altamura, Paola Imbrici, Renato Mantegazza, Pia Bernasconi, Massimiliano Filosto, Jean-François Desaphy, Alessandro Padovani, Alessandro Farinato, Raffaella Brugnoni

المصدر: neurogenetics. 18:219-225

مصطلحات موضوعية: Adult, 0301 basic medicine, Heterozygote, medicine.medical_specialty, Mutant, CLCN1 gene, Congenital myotonia, Patch clamp, SCN4A gene, Skeletal muscle channelopathies, medicine.disease_cause, Myotonia, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Chloride Channels, Internal medicine, Genetics, medicine, Humans, NAV1.4 Voltage-Gated Sodium Channel, Genetic Association Studies, Genetics (clinical), CLCN1, Mutation, biology, Sodium channel, Heterozygote advantage, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Endocrinology, biology.protein, Female, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23b0110ad978b8e5d2bfa004adb51202
https://doi.org/10.1007/s10048-017-0525-5

المؤلفون: Akihiko MATSUDA, Hajime HASEGAWA, Kazuhiko HIROSE, Manabu OHNUKI, Masanobu KlNOSHITA, Misato TAKAHAMA, Ryogen SASAKI, Satoko NAKAMURA, Tadasuke NAGANO, Tetsuya MITARAI

المصدر: Internal Medicine. 2003, 42(9):856

المصدر: Nederlands Tijdschrift voor Geneeskunde. 148(21):1035-1038

مصطلحات موضوعية: SCN4A gene, CACNA1S gene, potassium, missense mutation, hypokalemic periodic paralysis, article, arginine, histidine, acetazolamide, autosomal dominant disorder, hypokalemia, treatment outcome, calcium channel, gene mutation, human, gene, sodium channel, amino acid substitution, gene location, muscle weakness

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::e377a9021981166c706b25f5a1fce67d
https://hdl.handle.net/11370/3958690c-82f0-4c3d-9dfd-a6d7558629e0

المؤلفون: Hughes, Aeleia

المساهمون: Klausmeyer, Rizalia, Baylor University., Steve Kuenzli., Science Research Fellows., Honors College - Honors Program, Honors College - Honors Theses

مصطلحات موضوعية: Nutrition and Myotonia, Hyperkalemic Periodic Paralysis, Hyperkalemic Periodic Paralysis Symptom Management, HyperKPP, HyperPP, Periodic Paralysis, Science Research Fellows, SCN4A gene mutation, SCN4A gene, Potassium Related Disorder, Myotonia, Muscle Constriction, Nutrition and Periodic Paralysis

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2104/10971

الاتاحة: https://hdl.handle.net/2104/10971

المؤلفون: Moroni, Isabella, Brugnoni, Raffaella

مصطلحات موضوعية: CLCN1 gene, Next-generation sequencing, Non-dystrophic myotonias, Periodic paralyses, SCN4A gene, Skeletal muscle channelopathies

Relation: https://doi.org/10.1016/j.nmd.2020.12.003; https://zenodo.org/communities/besta; https://doi.org/10.5281/zenodo.4670371; https://doi.org/10.5281/zenodo.4683067; oai:zenodo.org:4683067

الاتاحة: https://doi.org/10.5281/zenodo.4683067

المؤلفون: Moroini, Isabella

مصطلحات موضوعية: CLCN1 gene, Next-generation sequencing, Non-dystrophic myotonias, Periodic paralyses, SCN4A gene, Skeletal muscle channelopathies

Relation: https://doi.org/10.1016/j.nmd.2020.12.003; https://zenodo.org/communities/besta; https://doi.org/10.5281/zenodo.4670371; https://doi.org/10.5281/zenodo.4670372; oai:zenodo.org:4670372

الاتاحة: https://doi.org/10.5281/zenodo.4670372

المؤلفون: Links, T.P., Ginjaar, H.B., Van Der Hoeven, J.H.

المساهمون: Damage and Repair in Cancer Development and Cancer Treatment - 1, Guided Treatment in Optimal Selected Cancer Patients

المصدر: Nederlands Tijdschrift voor Geneeskunde, 148(21), 1035-1038. NLM (Medline)

مصطلحات موضوعية: SCN4A gene, CACNA1S gene, potassium, missense mutation, hypokalemic periodic paralysis, article, arginine, histidine, acetazolamide, autosomal dominant disorder, hypokalemia, treatment outcome, calcium channel, gene mutation, human, gene, sodium channel, amino acid substitution, gene location, muscle weakness

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::e9ad8da0e74595b0179511b41cc51f28
https://research.rug.nl/en/publications/3958690c-82f0-4c3d-9dfd-a6d7558629e0