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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 18"
Page 1
Congenital myasthenic syndromes.
Eymard B, Hantaï D, Estournet B. Eymard B, et al. Handb Clin Neurol. 2013;113:1469-80. doi: 10.1016/B978-0-444-59565-2.00016-2. Handb Clin Neurol. 2013. PMID: 23622369 Review.
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. ...The combination of clinical, electrophysiological, and morph …
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neurom …
Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features.
Prior DE, Ghosh PS. Prior DE, et al. J Child Neurol. 2021 Jul;36(8):610-617. doi: 10.1177/0883073820987755. Epub 2021 Jan 20. J Child Neurol. 2021. PMID: 33471587
BACKGROUND: Congenital myasthenic syndrome is a group of rare genetic disorders affecting transmission across the neuromuscular junction. Patients present with variable ocular, bulbar, respiratory, and extremity weakness that may respond to symptomatic therap …
BACKGROUND: Congenital myasthenic syndrome is a group of rare genetic disorders affecting transmission across the neuro …
Congenital Myasthenic Syndromes in 2018.
Engel AG. Engel AG. Curr Neurol Neurosci Rep. 2018 Jun 12;18(8):46. doi: 10.1007/s11910-018-0852-4. Curr Neurol Neurosci Rep. 2018. PMID: 29892917 Review.
PURPOSE OF REVIEW: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years. ...
PURPOSE OF REVIEW: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis o …
Congenital myasthenic syndrome in China: genetic and myopathological characterization.
Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y. Zhao Y, et al. Ann Clin Transl Neurol. 2021 Apr;8(4):898-907. doi: 10.1002/acn3.51346. Epub 2021 Mar 23. Ann Clin Transl Neurol. 2021. PMID: 33756069 Free PMC article.
OBJECTIVE: We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes. ...Based on the follow-up findings, we suggest cautious evaluation …
OBJECTIVE: We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital …
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Marina AD, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, Cheng MHM, Chan WK, Wan HS, Thomas MA, Borch L, Lauzon J, Kornblum C, Reimann J, Mueller A, Kuntzer T, Norwood F, Ramdas S, Jacobson LW, Jie X, Fernandez-Garcia MA, Wraige E, Lim M, Lin JP, Claeys KG, Aktas S, Oskoui M, Hacohen Y, Masud A, Leite MI, Palace J, De Vivo D, Vincent A, Jungbluth H. Allen NM, et al. Brain. 2023 Oct 3;146(10):4233-4246. doi: 10.1093/brain/awad153. Brain. 2023. PMID: 37186601 Free PMC article.
Moreover, since some mothers have no myasthenic symptoms, the condition is likely underreported, resulting in failure to implement effective preventive strategies. ...Facial (25/34; 73.5%) and variable peripheral weakness (14/32; 43.8%), velopharyngeal insufficiency (18 …
Moreover, since some mothers have no myasthenic symptoms, the condition is likely underreported, resulting in failure to implement ef …
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia.
Caldas VM, Heise CO, Kouyoumdjian JA, Zambon AA, Silva AMS, Estephan EP, Zanoteli E. Caldas VM, et al. Neuromuscul Disord. 2020 Nov;30(11):897-903. doi: 10.1016/j.nmd.2020.10.002. Epub 2020 Oct 14. Neuromuscul Disord. 2020. PMID: 33121830
This study was designed to analyze the sensitivity, specificity, and accuracy of jitter parameters combined with repetitive nerve stimulation (RNS) in congenital myasthenic syndrome (CMS), chronic progressive external ophthalmoplegia (CPEO), and congenital …
This study was designed to analyze the sensitivity, specificity, and accuracy of jitter parameters combined with repetitive nerve stimulatio …
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H. McMacken G, et al. J Neurol. 2018 Jan;265(1):194-203. doi: 10.1007/s00415-017-8689-3. Epub 2017 Nov 30. J Neurol. 2018. PMID: 29189923 Free PMC article.
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. ...RESULTS: Lack of genetic diagnosis was more common in CMS-EA than in CMS without EA (56% n = …
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of a …
Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
Yildiz EP, Kilic MA, Yalcin EU, Kurekci F, Avci R, Hacıfazlıoğlu NE, Ceylaner S, Gezdirici A, Çalışkan M. Yildiz EP, et al. Acta Neurol Belg. 2023 Oct;123(5):1841-1847. doi: 10.1007/s13760-022-02090-0. Epub 2022 Sep 12. Acta Neurol Belg. 2023. PMID: 36094697
INTRODUCTION: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety factor which required for neuromuscular transmission. ...RESULTS: The most common mutations were in the acetylcholine receptor (CHRNE) gene …
INTRODUCTION: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety …
Developing outcome measures of disease activity in pediatric myasthenia.
Prior DE, Cooper BA, Zhang B, Ghosh PS. Prior DE, et al. Muscle Nerve. 2021 May;63(5):751-757. doi: 10.1002/mus.27208. Epub 2021 Feb 28. Muscle Nerve. 2021. PMID: 33604899
INTRODUCTION: Pediatric myasthenia encompasses juvenile myasthenia gravis (JMG) and congenital myasthenic syndrome (CMS), which are chronic disorders with fluctuating symptoms amenable to medical therapy. Disease activity and treatment response may be difficu …
INTRODUCTION: Pediatric myasthenia encompasses juvenile myasthenia gravis (JMG) and congenital myasthenic syndrome (CMS …
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. ...As tubular aggregates in context of a neuromuscular transmission defect appear to be highly indicative, we sugges …
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the …
27 results