المؤلفون: Gabriel Utida Eguchi, Mariana Isa Poci Palumbo, Fabrício Moreira Cerri, Roberta Martins Basso, José Paes de Oliveira-Filho, Silvana Marques Caramalac, Alexandre Secorun Borges

المصدر: Frontiers in Veterinary Science, Vol 11 (2024)

مصطلحات موضوعية: chloride channel, neuromuscular disorder, hereditary disease, electroneuromyography, congenital myotonia, Veterinary medicine, SF600-1100

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fvets.2024.1485454/full; https://doaj.org/toc/2297-1769

URL الوصول: https://doaj.org/article/1e67bfeba0864dc79d09a5d215576346

المؤلفون: João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigues

المصدر: BMC Neurology, Vol 23, Iss 1, Pp 1-5 (2023)

مصطلحات موضوعية: Neutral lipid storage disease with myopathy, Thomsen’s congenital myotonia, Myopathy, Myotonia, Jordan’s anomaly, PNPLA2, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/cf1b65548b164572ae2f36bb3f465b7e

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: Páez Ordoño, Ana

المساهمون: Perla Muedra, Carlos

مصطلحات موضوعية: Miotonía congénita, Canalopatías, Miotonía de Becker, Fenómeno de calentamiento, Congenital Myotonia, Channelopathies, Becker’s Myotonia, Warm-up, 32 Ciencias Médicas

Relation: http://hdl.handle.net/20.500.12466/3027

الاتاحة: https://hdl.handle.net/20.500.12466/3027

المؤلفون: Shnayder, N. A., Artyukhov, I. P., Шнайдер, Н. А., Артюхов, И. П.

مصطلحات موضوعية: CONGENITAL MYOTONIA, CLCN1, DIAGNOSIS, MANAGEMENT, RARE CLINICAL CASE, ВРОЖДЕННАЯ МИОТОНИЯ, ДИАГНОСТИКА, МЕНЕДЖМЕНТ, РЕДКИЙ КЛИНИЧЕСКИЙ СЛУЧАЙ

وصف الملف: application/pdf

Relation: Уральский медицинский журнал. 2016. T. 143, № 10.; Шнайдер, Н. А. Проблемы диагностического менеджмента врожденной миотонии: казнить нельзя помиловать / Н. А. Шнайдер, И. П. Артюхов. – Текст: электронный // Уральский медицинский журнал. - 2016. – T. 143, № 10. – С. 76-79.; http://elib.usma.ru/handle/usma/13349

الاتاحة: http://elib.usma.ru/handle/usma/13349

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: Morales Montero, Fernando, Cuenca Berger, Patricia, del Valle Carazo, Gerardo, Vásquez Cerdas, Melissa, Brian Gago, Roberto, Sittenfeld Appel, Mauricio, Johnson, Keith, Lin, Xi, Ashizawa, Tetsuo

المصدر: Revista Biología Tropical, vol.56(1), pp. 1-11.

مصطلحات موضوعية: Congenital myotonia, Myotonic dystrophy, Becker myotonia, Chloride channelopathy, SSCP, Miotonía congenita, Distrofia miotónica, Miotonía de Becker, Canalopatía de cloruro

وصف الملف: application/pdf

Relation: https://revistas.ucr.ac.cr/index.php/rbt/article/view/5505; https://hdl.handle.net/10669/76609

الاتاحة: https://hdl.handle.net/10669/76609
https://revistas.ucr.ac.cr/index.php/rbt/article/view/5505
https://doi.org/10.15517/RBT.V56I1.5505

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: Rossignol, Elsa

Thesis Advisors: Brais, Bernard

مصطلحات موضوعية: myotonie congénitale, paralysie périodique, canaux voltage-dépendants, SCN4A, CLCN1, congenital myotonia, periodic paralysis, potassium-aggravated myotonia, voltage-gated channels, Biology - Neuroscience / Biologie - Neurologie (UMI : 0317)

الاتاحة: http://hdl.handle.net/1866/3702

المؤلفون: Roberto Brian, Mauricio Sittenfeld, Keith J. Johnson, Xi Lin, Fernando Morales, Melissa Vásquez, Tetsuo Ashizawa, Patricia Cuenca, Gerardo Del Valle

المصدر: Revista de Biología Tropical, Volume: 56, Issue: 1, Pages: 1-11, Published: MAR 2008
Revista Biología Tropical, vol.56(1), pp. 1-11.
Kérwá
Universidad de Costa Rica
instacron:UCR
Revista de Biología Tropical, Vol 56, Iss 1, Pp 1-11 (2008)
Revista de Biología Tropical; Vol. 56 No. 1 (2008): Volume 56 – Regular number 1 – March 2008
Revista de Biología Tropical; Vol. 56 Núm. 1 (2008): Volumen 56 – Número regular 1 – Marzo 2008
Revista Biología Tropical; Vol. 56 N.º 1 (2008): Volumen 56 – Número regular 1 – Marzo 2008
Portal de Revistas UCR

مصطلحات موضوعية: Adult, Costa Rica, Genetic Markers, Male, musculoskeletal diseases, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Adolescent, Genetic counseling, Polymerase Chain Reaction, Myotonic dystrophy, Muscle hypertrophy, Chloride Channels, medicine, distrofia miotónica, Humans, Becker myotonia, miotonía congenita, Child, chloride channelopathy, lcsh:QH301-705.5, canalopatía de cloruro, Polymorphism, Single-Stranded Conformational, Congenital myotonia, Subclinical infection, Genetics, CLCN1, myotonic dystrophy, biology, Myotonia congenita, business.industry, DNA Restriction Enzymes, medicine.disease, Myotonia, SSCP, Pedigree, Phenotype, lcsh:Biology (General), Mutation, biology.protein, Female, General Agricultural and Biological Sciences, business, myotonia congenita, miotonía de Becker

وصف الملف: text/html; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c69930a241cececabbbf6b8d573eaf12
http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442008000100001&lng=en&tlng=en

المؤلفون: Rossignol, Elsa

المساهمون: Brais, Bernard

مصطلحات موضوعية: myotonie congénitale, paralysie périodique, canaux voltage-dépendants, SCN4A, CLCN1, congenital myotonia, periodic paralysis, potassium-aggravated myotonia, voltage-gated channels, Biology - Neuroscience / Biologie - Neurologie (UMI : 0317)

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1866/3702

الاتاحة: http://hdl.handle.net/1866/3702