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: 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: 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: Cheminelle, Marie¹ (AUTHOR), Nougues, Marie-Christine² (AUTHOR), Isapof, Arnaud² (AUTHOR), Aubertin, Guillaume^1,3 (AUTHOR), Corvol, Harriet^1,3 (AUTHOR), Beydon, Nicole^3,4 (AUTHOR), Taytard, Jessica^1,5 (AUTHOR) jessica.taytard@aphp.fr

المصدر: Neuromuscular Disorders. Mar2023, Vol. 33 Issue 3, p263-269. 7p.

مصطلحات موضوعية: *HYPOVENTILATION, *MYOTONIA atrophica, *SLEEP apnea syndromes, *PULMONARY function tests, *JUVENILE diseases, *NEUROMUSCULAR diseases

مصطلحات جغرافية: PARIS (France)

المؤلفون: Allergodt, Kristin^1,2 kral@rcfm.dk, Handberg, Charlotte^1,2, Frost, Asger¹, Werlauff, Ulla¹

المصدر: Journal of Evaluation in Clinical Practice. Feb2023, Vol. 29 Issue 1, p39-48. 10p. 1 Diagram, 4 Charts.

مصطلحات موضوعية: *RETROSPECTIVE studies, *MYOTONIA atrophica, *NEEDS assessment

مصطلحات جغرافية: DENMARK

المؤلفون: Bargiela, Ariadna¹ (AUTHOR) ariadna_bargiela@iislafe.es, Ten-Esteve, Amadeo^2,3 (AUTHOR), Martí-Bonmatí, Luis^2,3 (AUTHOR), Sevilla, Teresa^1,4,5 (AUTHOR), Perez Alonso, Manuel^6,7 (AUTHOR), Artero, Ruben^6,7 (AUTHOR)

المصدر: Scientific Reports. 1/10/2023, Vol. 12 Issue 1, p1-8. 8p.

مصطلحات موضوعية: *MAGNETIC resonance imaging, *MYOTONIA atrophica, *TRINUCLEOTIDE repeats, *SKELETAL muscle, *LOCUS coeruleus, *NEUROMUSCULAR diseases, *MUSCULOSKELETAL system

المؤلفون: Fisette-Paulhus, Isabelle¹ (AUTHOR), Gagnon, Cynthia^1,2 (AUTHOR), Morin, Mélanie^1,2,3 (AUTHOR) melanie.m.morin@usherbrooke.ca

المصدر: Neuromuscular Disorders. Jan2023, Vol. 33 Issue 1, p32-39. 8p.

مصطلحات موضوعية: *PELVIC floor disorders, *MYOTONIA atrophica, *DYSPAREUNIA, *PSYCHOLOGICAL distress, *URINARY incontinence in women, *PELVIC organ prolapse, *NEUROMUSCULAR diseases, *URINARY incontinence

المؤلفون: Karnebeek, I.E.A.¹ (AUTHOR), Boon, H.T.M.¹ (AUTHOR), Huis, A.M.P.² (AUTHOR), Cup, E.H.C.³ (AUTHOR), Eggink, C.A.⁴ (AUTHOR), Schouten, M.I.⁵ (AUTHOR), van der Looij, H.J.⁵ (AUTHOR), van Engelen, B.G.M.¹ (AUTHOR), Smulders, F.H.P.¹ (AUTHOR), Voermans, N.C.¹ (AUTHOR) nicol.voermans@radboudumc.nl

المصدر: Neuromuscular Disorders. Oct2022, Vol. 32 Issue 10, p829-835. 7p.

مصطلحات موضوعية: *MYOTONIA atrophica, *DELAYED diagnosis, *CATARACT, *SYMPTOMS, *NEUROMUSCULAR diseases

المؤلفون: Suetterlin, Karen^1,2 (AUTHOR), Matthews, Emma^1,3 (AUTHOR), Sud, Richa⁴ (AUTHOR), McCall, Samuel⁴ (AUTHOR), Fialho, Doreen^1,5 (AUTHOR), Burge, James^1,5 (AUTHOR), Jayaseelan, Dipa¹ (AUTHOR), Haworth, Andrea⁴ (AUTHOR), Sweeney, Mary G⁴ (AUTHOR), Kullmann, Dimitri M⁶ (AUTHOR), Schorge, Stephanie^6,7 (AUTHOR), Hanna, Michael G¹ (AUTHOR), Männikkö, Roope¹ (AUTHOR) r.mannikko@ucl.ac.uk

المصدر: Brain: A Journal of Neurology. Feb2022, Vol. 145 Issue 2, p607-620. 14p.

مصطلحات موضوعية: *MYOTONIA congenita, *NEUROMUSCULAR diseases, *CHLORIDE channels, *GENETIC counseling, *GENETIC translation, *GENETIC correlations, *RECESSIVE genes, *RESEARCH, *GENETIC mutation, *RESEARCH methodology, *EVALUATION research, *COMPARATIVE studies, *RESEARCH funding, *MEMBRANE proteins, *MYOTONIA, *PHENOTYPES

المؤلفون: Rasmussen, Astrid¹ (AUTHOR) rasmussenastrid4@gmail.com, Hildonen, Mathis¹ (AUTHOR) mathis.hildonen@regionh.dk, Vissing, John^2,3 (AUTHOR) john.vissing@regionh.dk, Duno, Morten⁴ (AUTHOR) morten.dunoe@regionh.dk, Tümer, Zeynep^1,3 (AUTHOR) ulf.birkedal@regionh.dk, Birkedal, Ulf¹ (AUTHOR)

المصدر: Genes. Jun2022, Vol. 13 Issue 6, p970-970. 12p.

مصطلحات موضوعية: *MYOTONIA atrophica, *DYSTROPHY, *NEUROMUSCULAR diseases, *SOMATIC cells, *AGE of onset, *GENETIC engineering, *RNA splicing