المؤلفون: Jacobsen, Laura Nørager¹ (AUTHOR) laura.noerager.jacobsen.01@regionh.dk, Stemmerik, Mads Godtfeldt¹ (AUTHOR), Skriver, Sofie Vinther¹ (AUTHOR), Pedersen, Jonas Jalili¹ (AUTHOR), Løkken, Nicoline¹ (AUTHOR), Vissing, John¹ (AUTHOR)

المصدر: European Journal of Neurology. Apr2024, Vol. 31 Issue 4, p1-11. 11p.

مصطلحات موضوعية: *MYOTONIA congenita, *CALF muscles, *FOREARM, *MAGNETIC resonance, *MAGNETIC properties, *CHLORIDE channels, *FAT

المؤلفون: Berry-Kravis, Elizabeth, Abbeduto, Leonard, Hagerman, Randi, Coffey, Christopher S, Cudkowicz, Merit, Erickson, Craig A, McDuffie, Andrea, Hessl, David, Ethridge, Lauren, Tassone, Flora, Kaufmann, Walter E, Friedmann, Katherine, Bullard, Lauren, Hoffmann, Anne, Veenstra-VanderWeele, Jeremy, Staley, Kevin, Klements, David, Moshinsky, Michael, Harkey, Brittney, Long, Jeff, Fedler, Janel, Klingner, Elizabeth, Ecklund, Dixie, Costigan, Michele, Huff, Trevis, Pearson, Brenda, Investigators, NeuroNEXT FXLEARN

المصدر: Journal of Clinical Investigation. 134(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Behavioral and Social Science, Fragile X Syndrome, Clinical Research, Pediatric, Brain Disorders, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Mental health, Adult, Animals, Child, Humans, Single-Blind Method, Learning, Language, Cleft Palate, Indoles, Malignant Hyperthermia, Myotonia Congenita, NeuroNEXT FXLEARN Investigators, Clinical trials, Neurodevelopment, Neuroscience, Translation, Medical and Health Sciences, Immunology, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/692748zcTest

المؤلفون: Kriegeskorte, Sophia¹, Bott, Raya¹, Hampl, Martin², Korngreen, Alon^3,4, Hausmann, Ralf⁵ rhausmann@ukaachen.de, Lampert, Angelika¹ alampert@ukaachen.de

المصدر: Journal of General Physiology. Sep2023, Vol. 155 Issue 9, p1-S3. 24p.

مصطلحات موضوعية: *SODIUM channels, *MYOTONIA congenita, *BRUGADA syndrome, *ACTION potentials, *FEBRILE seizures

المؤلفون: Van Poucke, Mario¹ (AUTHOR) mario.vanpoucke@ugent.be, Stee, Kimberley² (AUTHOR), Lowrie, Mark³ (AUTHOR), Peelman, Luc¹ (AUTHOR)

المصدر: Animal Genetics. Aug2023, Vol. 54 Issue 4, p483-490. 8p.

مصطلحات موضوعية: *ISAACS syndrome, *MYOTONIA congenita, *WHOLE genome sequencing

المؤلفون: Nava, Simone, Conte, Giorgio, Triulzi, Fabio M, Comi, Giacomo P, Magri, Francesca, Velardo, Daniele, Cinnante, Claudia M

المصدر: British Journal of Radiology; May2024, Vol. 97 Issue 1157, p947-953, 7p

مصطلحات موضوعية: BECKER muscular dystrophy, DIFFUSION tensor imaging, WHITE matter (Nerve tissue), DIFFUSION magnetic resonance imaging, NEUROMUSCULAR diseases, MYOTONIA congenita

المؤلفون: Vivekanandam, Vinojini¹ (AUTHOR) v.vivekanandam@ucl.ac.uk, Ellmers, Rebecca¹ (AUTHOR), Jayaseelan, Dipa¹ (AUTHOR), Houlden, Henry¹ (AUTHOR), Männikkö, Roope¹ (AUTHOR), Hanna, Michael G¹ (AUTHOR)

المصدر: Brain: A Journal of Neurology. Apr2023, Vol. 146 Issue 4, p1316-1321. 6p.

مصطلحات موضوعية: *GENETIC variation, *MYOTONIA congenita, *CHLORIDE channels, *MISSENSE mutation, *SKELETAL muscle

المؤلفون: Ke, Qing¹ (AUTHOR) Keqing2003@zju.edu.cn, Zhao, Youcheng² (AUTHOR), Li, Yuezhou³ (AUTHOR), Ye, Jia³ (AUTHOR), Tang, Siyang³ (AUTHOR), He, Fangping¹ (AUTHOR), Ji, Fang¹ (AUTHOR), Dai, Xuejiao¹ (AUTHOR), Ni, Jie¹ (AUTHOR), Li, Yi¹ (AUTHOR), Griggs, Robert C.^1,4 (AUTHOR) Robert_Griggs@URMC.Rochester.edu, Cheng, Xiaoyang^1,5,6,7 (AUTHOR) xiaoyang.cheng@yale.edu

المصدر: Neuromuscular Disorders. Oct2022, Vol. 32 Issue 10, p811-819. 9p.

مصطلحات موضوعية: *SODIUM channels, *MYOTONIA congenita, *MUSCULAR atrophy, *GENETIC mutation, *SKELETAL muscle, *EPIDERMOLYSIS bullosa, *BRUGADA syndrome

المؤلفون: Woelfel, Christian¹ (AUTHOR), Meurs, Kathryn¹ (AUTHOR), Friedenberg, Steven² (AUTHOR), DeBruyne, Nicole¹ (AUTHOR), Olby, Natasha J.¹ (AUTHOR) njolby@ncsu.edu

المصدر: Journal of Veterinary Internal Medicine. Jul2022, Vol. 36 Issue 4, p1454-1459. 6p.

مصطلحات موضوعية: *MYOTONIA congenita, *WHOLE genome sequencing, *DIAGNOSIS, *CHLORIDE channels, *CATS, *CAT diseases, *TREATMENT effectiveness

المؤلفون: Brenes, Oscar, Pusch, Michael, Morales, Fernando

المصدر: Biomedicines; Oct2023, Vol. 11 Issue 10, p2622, 22p

مصطلحات موضوعية: CHLORIDE channels, MYOTONIA congenita, GENETIC mutation, SKELETAL muscle, MUSCLE diseases

المؤلفون: Azonbakin, Simon¹ (AUTHOR) simazonbakin@gmail.com, Adovoekpe, Diane¹ (AUTHOR), Adjagba, Marius¹ (AUTHOR), Alao, Jules² (AUTHOR), Sagbo, Gratien² (AUTHOR), Adjien, Constant³ (AUTHOR), Laleye, Anatole¹ (AUTHOR)

المصدر: Egyptian Journal of Medical Human Genetics. 4/13/2022, Vol. 23 Issue 1, p1-5. 5p.

مصطلحات موضوعية: *MYOTONIA congenita, *CONGENITAL disorders, *MYALGIA, *BLOOD sampling, *SKELETAL muscle, BLACK Africans

مصطلحات جغرافية: BENIN