المؤلفون: Ostojić, Slavica¹ (AUTHOR) ostojic.slavica@gmail.com, Kovačević, Gordana¹ (AUTHOR), Meola, Giovanni² (AUTHOR), Pešović, Jovan³ (AUTHOR), Savić-Pavićević, Dušanka³ (AUTHOR), Brkušanin, Miloš³ (AUTHOR), Kravljanac, Ružica¹ (AUTHOR), Perić, Marina⁴ (AUTHOR), Martić, Jelena⁵ (AUTHOR), Pejić, Katarina⁵ (AUTHOR), Ristić, Snežana⁵ (AUTHOR), Perić, Stojan⁶ (AUTHOR)

المصدر: Neuromuscular Disorders. Jul2024, Vol. 40, p16-23. 8p.

مصطلحات موضوعية: *MYOTONIA atrophica, *CONGENITAL disorders, *RESPIRATORY insufficiency, *PROGNOSIS, *NEUROMUSCULAR diseases, *ADRENAL insufficiency, *CEREBRAL anoxia-ischemia

المؤلفون: Serra, Laura¹ (AUTHOR) l.serra@hsantalucia.it, Petrucci, Antonio² (AUTHOR), Bruschini, Michela¹ (AUTHOR), Botta, Annalisa³ (AUTHOR), Campisi, Corrado⁴ (AUTHOR), Caltagirone, Carlo⁵ (AUTHOR), Bozzali, Marco⁴ (AUTHOR)

المصدر: Neuromuscular Disorders. Jul2024, Vol. 40, p24-30. 7p.

مصطلحات موضوعية: *MONOZYGOTIC twins, *MYOTONIA atrophica, *PHENOTYPIC plasticity, *SOCIAL perception, *THEORY of mind

المؤلفون: Fossmo, Hanne Ludt^1,2,3 hanne.fossmo@vikersundbad.no, Ørstavik, Kristin^1,3, Frich, Jan C.⁴, Robinson, Hilde Stendal⁵

المصدر: Disability & Rehabilitation. Jun2024, Vol. 46 Issue 12, p2699-2707. 9p.

مصطلحات موضوعية: *MYOTONIA atrophica, *RESEARCH funding, *CRONBACH'S alpha, *QUESTIONNAIRES, *TRANSLATIONS, *RESEARCH methodology evaluation, *DESCRIPTIVE statistics, *PSYCHOMETRICS, *RESEARCH methodology, *INTRACLASS correlation, *STATISTICAL reliability, *DATA analysis software, *CONFIDENCE intervals, *HEALTH outcome assessment, *EVALUATION, RESEARCH evaluation

المؤلفون: Falcetta, Denis^1,2,3 (AUTHOR), Quirim, Sandrine¹ (AUTHOR), Cocchiararo, Ilaria¹ (AUTHOR), Chabry, Florent¹ (AUTHOR), Théodore, Marine² (AUTHOR), Stiefvater, Adeline² (AUTHOR), Lin, Shuo³ (AUTHOR), Tintignac, Lionel² (AUTHOR), Ivanek, Robert^4,5 (AUTHOR), Kinter, Jochen² (AUTHOR), Rüegg, Markus A.³ (AUTHOR), Sinnreich, Michael² (AUTHOR), Castets, Perrine¹ (AUTHOR) perrine.castets@unige.ch

المصدر: Skeletal Muscle. 5/21/2024, Vol. 14 Issue 1, p1-17. 17p.

مصطلحات موضوعية: *MYONEURAL junction, *MYOTONIA atrophica, *GENETIC regulation, *DEREGULATION, *CHOLINERGIC receptors

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: Zhong, Huahua¹ (AUTHOR), Zeng, Li² (AUTHOR), Yu, Xuefan³ (AUTHOR), Ke, Qing⁴ (AUTHOR), Dong, Jihong⁵ (AUTHOR), Chen, Yan⁶ (AUTHOR), Luo, Lijun⁷ (AUTHOR), Chang, Xueli⁸ (AUTHOR), Guo, Junhong⁸ (AUTHOR), Wang, Yiqi⁹ (AUTHOR), Xiong, Hui¹⁰ (AUTHOR), Liu, Rongrong¹¹ (AUTHOR), Liu, Changxia¹² (AUTHOR), Wu, Jibao¹³ (AUTHOR), Lin, Jie¹ (AUTHOR), Xi, Jianying¹ (AUTHOR), Zhu, Wenhua¹ (AUTHOR), Tan, Song² (AUTHOR), Liu, Fuchen¹⁴ (AUTHOR), Lu, Jiahong¹ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 3/7/2024, Vol. 19 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *MYOTONIA atrophica, *DROWSINESS, *FACIOSCAPULOHUMERAL muscular dystrophy, *NEUROMUSCULAR diseases, *MUSCULAR dystrophy, *MUSCLE weakness, *EPWORTH Sleepiness Scale

المؤلفون: Papp, David¹ (AUTHOR), Hernandez, Luis A¹ (AUTHOR), Mai, Theresa A¹ (AUTHOR), Haanen, Terrance J¹ (AUTHOR), O'Donnell, Meghan A¹ (AUTHOR), Duran, Ariel T¹ (AUTHOR), Hernandez, Sophia M¹ (AUTHOR), Narvanto, Jenni E¹ (AUTHOR), Arguello, Berenice¹ (AUTHOR), Onwukwe, Marvin O¹ (AUTHOR), Mirkin, Sergei M² (AUTHOR), Kim, Jane C¹ (AUTHOR) jckim@csusm.edu

المصدر: G3: Genes | Genomes | Genetics. Feb2024, Vol. 14 Issue 2, p1-13. 13p.

مصطلحات موضوعية: *MYOTONIA atrophica, *HOMOLOGOUS recombination, *DNA helicases, *MICROSATELLITE repeats, *REPORTER genes, *TELEOLOGY

المؤلفون: Yang, Li¹ (AUTHOR) 340662606@qq.com, Chen, Xiuying¹ (AUTHOR), Wu, Rui² (AUTHOR)

المصدر: Neurological Sciences. Feb2024, Vol. 45 Issue 2, p735-740. 6p.

مصطلحات موضوعية: *MYOTONIA atrophica, *NERVE conduction studies, *NEURAL stimulation, *HOSPITAL admission & discharge, *ELECTROMYOGRAPHY

المؤلفون: Maagdenberg, Sandra J.M.¹ (AUTHOR), Klinkenberg, Sylvia² (AUTHOR), Sophie van den Berg, J.¹ (AUTHOR), Altena-Rensen, Sandra¹ (AUTHOR), Vrijens, Desiree³ (AUTHOR), Janssen, Etienne J.M.⁴ (AUTHOR), Gierenz, Nicole⁵ (AUTHOR), de Wall, Liesbeth L.⁶ (AUTHOR), Braakman, Hilde M.H.¹ (AUTHOR) Hilde.Braakman@radboudumc.nl

المصدر: Neuromuscular Disorders. Feb2024, Vol. 35, p1-7. 7p.

مصطلحات موضوعية: *MYOTONIA atrophica, *IRRITABLE colon, *TOILET training, *SYMPTOMS, *URINARY incontinence, *CHILD care

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