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6. Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review. Arican P; Gencpinar P; Cavusoglu D; Olgac Dundar N Neuropediatrics; 2018 Aug; 49(4):283-288. PubMed ID: 29783273 [TBL] [Abstract][Full Text] [Related]
8. Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Schmidt C; Abicht A; Krampfl K; Voss W; Stucka R; Mildner G; Petrova S; Schara U; Mortier W; Bufler J; Huebner A; Lochmüller H Neuromuscul Disord; 2003 Mar; 13(3):245-51. PubMed ID: 12609506 [TBL] [Abstract][Full Text] [Related]
9. Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. Barisic N; Müller JS; Paucic-Kirincic E; Gazdik M; Lah-Tomulic K; Pertl A; Sertic J; Zurak N; Lochmüller H; Abicht A Eur J Paediatr Neurol; 2005; 9(1):7-12. PubMed ID: 15701560 [TBL] [Abstract][Full Text] [Related]
10. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Ohno K; Tsujino A; Brengman JM; Harper CM; Bajzer Z; Udd B; Beyring R; Robb S; Kirkham FJ; Engel AG Proc Natl Acad Sci U S A; 2001 Feb; 98(4):2017-22. PubMed ID: 11172068 [TBL] [Abstract][Full Text] [Related]
11. Congenital myasthenic syndrome: a rare, potentially treatable cause of respiratory failure in a "floppy" infant. McConkey PP; Mullens AJ Anaesth Intensive Care; 2000 Feb; 28(1):82-6. PubMed ID: 10701044 [TBL] [Abstract][Full Text] [Related]
12. [Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases]. Liu ZM; Fang F; Ding CH; Zhang WH; Deng J; Chen CH; Wang X; Liu J; Li Z; Jia XL; Zeng JS; Qian SY Zhonghua Er Ke Za Zhi; 2018 Mar; 56(3):216-220. PubMed ID: 29518833 [No Abstract] [Full Text] [Related]
13. Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. Kraner S; Laufenberg I; Strassburg HM; Sieb JP; Steinlein OK Arch Neurol; 2003 May; 60(5):761-3. PubMed ID: 12756141 [TBL] [Abstract][Full Text] [Related]
14. Severe congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure. Yeung WL; Lam CW; Fung LW; Hon KL; Ng PC Neonatology; 2009; 95(2):183-6. PubMed ID: 18797171 [TBL] [Abstract][Full Text] [Related]
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17. Unique presentation of rapidly fluctuating symptoms in a child with congenital myasthenic syndrome due to RAPSN mutation. Kumar A; Asghar S; Kavanagh R; Wicklund MP Muscle Nerve; 2018 Oct; 58(4):E23-E24. PubMed ID: 30028532 [No Abstract] [Full Text] [Related]
18. 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 J Neurol; 2018 Jan; 265(1):194-203. PubMed ID: 29189923 [TBL] [Abstract][Full Text] [Related]