المؤلفون: Simon Azonbakin, Diane Adovoekpe, Marius Adjagba, Jules Alao, Gratien Sagbo, Constant Adjien, Anatole Laleye

المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Myotonia, Congenital, Becker disease, CLCN1 gene, Mexiletine, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/6c5441750b5e4e5aa4e8776cebb3f1d1

المؤلفون: Sanrı, Aslihan, Öz Tuncer, Gökçen, Aydın, Seren, Herguner, Özlem M., Özgun, Nezir, Komur, Mustafa, İçağasıoğlu, Dilara F.

مصطلحات موضوعية: CLCN1, Chloride, Prevalence, Disease, Family, Cohort, Myotonia congenita, genetic heterogeneity, child, Skeletal-Muscle Channelopathies, Clcn1 Gene, Mutations

Relation: Journal of Neuromuscular Diseases; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.3233/JND-230046; https://hdl.handle.net/11454/92193; AYDIN, SEREN/0000-0002-9092-4383; Tütüncü Toker, Rabia/0000-0002-3129-334X; sanem/0000-0002-8719-0665; Ozgun, Nezir/0000-0002-0866-2004; KOMUR, MUSTAFA/0000-0001-6453-7323; 10; 915; 924

الاتاحة: https://hdl.handle.net/11454/92193
https://doi.org/10.3233/JND-230046

المؤلفون: Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Xihua Li

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: myotonia congenita, CLCN1 gene, mutations, genotype, phenotype, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.759505/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/0144b637bcf5497a8d08afe08ca514a6

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: 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: Özgün, Nezir, Taşlıdere, Hasan

مصطلحات موضوعية: Becker Disease, Clcn1 Gene, Congenital Myotonia, Thomsen Disease

وصف الملف: application/pdf

Relation: Turkish Journal of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Özgün, N., & Taşlıdere, H. (2020). Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.; https://doi.org/10.24953/turkjped.2020.03.012; https://hdl.handle.net/20.500.12713/296; 62; 450; 460; WOS:000541732400012; 2-s2.0-85086719730; Q4; Q3; 411292

الاتاحة: https://hdl.handle.net/20.500.12713/296
https://doi.org/10.24953/turkjped.2020.03.012

المؤلفون: Jing Miao, Xiao-jing Wei, Xue-mei Liu, Zhi-xia Kang, Yan-lu Gao, Xue-fan Yu

المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-3 (2018)

مصطلحات موضوعية: Myotonia congenita, Autosomal recessive, Case report, CLCN1 gene, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-018-1153-x; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/6c699af1d7d4443784cdba2ecd203953

المؤلفون: S. A. Kurbatov, S. S. Nikitin, S. N. Illarioshkin, P. Gundorova, A. V. Polyakov

المصدر: Нервно-мышечные болезни, Vol 6, Iss 1, Pp 74-81 (2016)

مصطلحات موضوعية: inherited myotonia, thomsen’s disease, becker’s disease, clcn1 gene, pseudodominant type of inheritance, nondystrophic myotonia, myotonic discharges, short exercise test, m-wave decrement, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/140; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/8236a5802dae4ea98232b1e0014f2244

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: Peddareddygari, Leema, Grewal, Arman, Grewal, Raji

مصطلحات موضوعية: Myotonic dystrophy type 2, Seizures, Myotonia, CNBP and CLCN1 gene mutations, Case report

Relation: http://www.jmedicalcasereports.com/content/10/1/167

الاتاحة: http://www.jmedicalcasereports.com/content/10/1/167

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: Nezir Ozgun, Hasan Taslidere

المساهمون: İstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Nezir Özgün / 0000-0002-0866-2004, Özgün, Nezir, Nezir Özgün / GCT-0294-2022, Nezir Özgün / 57190179626

المصدر: The Turkish journal of pediatrics. 62(3)

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Myotonia Congenita, Mutation, Missense, medicine.disease_cause, Becker Disease, Chloride Channels, Clcn1 Gene, Genotype, medicine, Missense mutation, Humans, Gene, Retrospective Studies, Genetics, CLCN1, Mutation, Splice site mutation, biology, business.industry, Congenital Myotonia, Thomsen Disease, Myotonia, medicine.disease, Stop codon, Pedigree, Pediatrics, Perinatology and Child Health, biology.protein, Female, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e312d97ebce5f6b8eaa3f0978e190a46
https://pubmed.ncbi.nlm.nih.gov/32558419

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: Chaoping Hu (9352052), Yiyun Shi (9117480), Lei Zhao (144153), Shuizhen Zhou (6695027), Xihua Li (148840)

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, myotonia congenita, CLCN1 gene, mutations, genotype, phenotype

Relation: https://figshare.com/articles/dataset/Table_1_Myotonia_Congenita_Clinical_Characteristic_and_Mutation_Spectrum_of_CLCN1_in_Chinese_Patients_DOCX/16911475

الاتاحة: https://doi.org/10.3389/fped.2021.759505.s001

المؤلفون: Chaoping Hu (9352052), Yiyun Shi (9117480), Lei Zhao (144153), Shuizhen Zhou (6695027), Xihua Li (148840)

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, myotonia congenita, CLCN1 gene, mutations, genotype, phenotype

Relation: https://figshare.com/articles/media/Video_1_Myotonia_Congenita_Clinical_Characteristic_and_Mutation_Spectrum_of_CLCN1_in_Chinese_Patients_MP4/16911478

الاتاحة: https://doi.org/10.3389/fped.2021.759505.s002

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: Recep Eröz, İbrahim Halil Damar

المساهمون: [Belirlenecek]

المصدر: Medeniyet Medical Journal

مصطلحات موضوعية: Apolipoprotein E, medicine.medical_specialty, genetic risk factors for cardiovascular disease, Coronary artery disease, chemistry.chemical_compound, kardiyovasküler hastalık için genetik risk faktörleri, Internal medicine, Miyotoni konjenita, Factor V Leiden, Medicine, Original Study, Myocardial infarction, Myotonia congenita, Absence of LMCA, CLCN1 gene, Genetic risk factors for cardiovascular disease, CLCN1, biology, business.industry, [No Keywords], General Medicine, medicine.disease, CLCN1 geni, myocardial infarction, chemistry, Methylenetetrahydrofolate reductase, Plasminogen activator inhibitor-1, LMCA yokluğu, biology.protein, Cardiology, absence of LMCA, miyokard infarktüsü, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef9c90dbfa095fc4b7e6483e8ac07a81
https://hdl.handle.net/20.500.12684/9489

المؤلفون: Xue-mei Liu, Zhi-xia Kang, Yan-lu Gao, Xiao-jing Wei, Xue-fan Yu, Jing Miao

المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-3 (2018)

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Male, medicine.medical_specialty, Genotype, Myotonia Congenita, Autosomal recessive, Compound heterozygosity, lcsh:RC346-429, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Asian People, Chloride Channels, Internal medicine, Mexiletine, Case report, Medicine, Humans, lcsh:Neurology. Diseases of the nervous system, CLCN1, biology, business.industry, Myotonia congenita, Muscle weakness, General Medicine, Muscle stiffness, CLCN1 gene, medicine.disease, 030104 developmental biology, Endocrinology, Mutation (genetic algorithm), Mutation, biology.protein, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Muscle contraction, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0662ac3c0a14400ad1a07ef25a4f0d5
https://pubmed.ncbi.nlm.nih.gov/30243293

المؤلفون: G. Ulzi, V.A. Sansone, F. Magri, S. Corti, N. Bresolin, G.P. Comi, S. Lucchiari

المساهمون: G. Ulzi, V.A. Sansone, F. Magri, S. Corti, N. Bresolin, G.P. Comi, S. Lucchiari

مصطلحات موضوعية: Becker's generalized myotonia, Channelopathy, CLCN1 gene, Minigene, Myotonia congenita, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/24452722; info:eu-repo/semantics/altIdentifier/wos/WOS:000335734400019; volume:41; issue:5; firstpage:2865; lastpage:2874; numberofpages:10; journal:MOLECULAR BIOLOGY REPORTS; http://hdl.handle.net/2434/237580; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84905676795

الاتاحة: http://hdl.handle.net/2434/237580
https://doi.org/10.1007/s11033-014-3142-5

المؤلفون: Lucchiari, S, Ulzi, G, Magri, F, Bucchia, M, Corbetta, F, Servida, M, Moggio, M, Comi, G, LECCHI, MARZIA MARIA

المساهمون: Lucchiari, S, Ulzi, G, Magri, F, Bucchia, M, Corbetta, F, Servida, M, Moggio, M, Comi, G, Lecchi, M

مصطلحات موضوعية: channelopathy, CLCN1 gene, skeletal muscle, myotonia congenita, Becker’s generalized myotonia, electrophysiology, BIO/09 - FISIOLOGIA

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/24304580; info:eu-repo/semantics/altIdentifier/wos/WOS:000328310800015; volume:64; issue:5; firstpage:669; lastpage:678; numberofpages:10; journal:JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY; http://hdl.handle.net/10281/48476; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84888229906

الاتاحة: http://hdl.handle.net/10281/48476