المؤلفون: Davion, Jean-Baptiste^1,2,3,4 (AUTHOR) jeanbaptiste.davion@chru-lille.fr, Tard, Céline^1,2,3 (AUTHOR), Fragoso, Loren³ (AUTHOR), Wilu-Wilu, Amina³ (AUTHOR), Skrobala, Emilie⁵ (AUTHOR), Defebvre, Luc^1,2 (AUTHOR), Delbeuck, Xavier^1,2,6 (AUTHOR)

المصدر: Journal of Neurology. Jul2024, Vol. 271 Issue 7, p4529-4539. 11p.

مصطلحات موضوعية: *MYOTONIA atrophica, *EXECUTIVE function, *COGNITION disorders, *COGNITIVE processing speed, *COGNITIVE testing, *EPISODIC memory, *CLINICAL neuropsychology

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