These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
22. Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Lashley D; Palace J; Jayawant S; Robb S; Beeson D Neurology; 2010 May; 74(19):1517-23. PubMed ID: 20458068 [TBL] [Abstract][Full Text] [Related]
23. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. Polavarapu K; Mathur A; Joshi A; Nashi S; Preethish-Kumar V; Bardhan M; Sharma P; Parveen S; Seth M; Vengalil S; Chawla T; Shingavi L; Shamim U; Nayak S; Vivekanand A; Töpf A; Roos A; Horvath R; Lochmüller H; Nandeesh B; Arunachal G; Nalini A; Faruq M Neurogenetics; 2021 Oct; 22(4):271-285. PubMed ID: 34333724 [TBL] [Abstract][Full Text] [Related]
24. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. Kinali M; Beeson D; Pitt MC; Jungbluth H; Simonds AK; Aloysius A; Cockerill H; Davis T; Palace J; Manzur AY; Jimenez-Mallebrera C; Sewry C; Muntoni F; Robb SA J Neuroimmunol; 2008 Sep; 201-202():6-12. PubMed ID: 18707767 [TBL] [Abstract][Full Text] [Related]
25. Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. Owen D; Töpf A; Preethish-Kumar V; Lorenzoni PJ; Vroling B; Scola RH; Dias-Tosta E; Geraldo A; Polavarapu K; Nashi S; Cox D; Evangelista T; Dawson J; Thompson R; Senderek J; Laurie S; Beltran S; Gut M; Gut I; Nalini A; Lochmüller H Am J Med Genet A; 2018 Jul; 176(7):1594-1601. PubMed ID: 29704306 [TBL] [Abstract][Full Text] [Related]
26. Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles. Ma Y; Xiong T; Lei G; Ding J; Yang R; Li Z; Guo J; Shen D Neurol Sci; 2021 Aug; 42(8):3485-3490. PubMed ID: 33438142 [TBL] [Abstract][Full Text] [Related]
28. Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia. Webster RG; Vanhaesebrouck AE; Maxwell SE; Cossins JA; Liu W; Ueta R; Yamanashi Y; Beeson DMW Hum Mol Genet; 2020 Aug; 29(14):2325-2336. PubMed ID: 32543656 [TBL] [Abstract][Full Text] [Related]
29. Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation. Lorenzoni PJ; Scola RH; Kay CS; Lochmüller H; Werneck LC Muscle Nerve; 2013 Jul; 48(1):151-2. PubMed ID: 23657916 [No Abstract] [Full Text] [Related]
30. A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation. Bastos P; Barbosa R; Fernandes M; Alonso I Neuromuscul Disord; 2020 Apr; 30(4):331-335. PubMed ID: 32360404 [TBL] [Abstract][Full Text] [Related]
31. Congenital myasthenic syndrome caused by mutations in DPAGT. Klein A; Robb S; Rushing E; Liu WW; Belaya K; Beeson D Neuromuscul Disord; 2015 Mar; 25(3):253-6. PubMed ID: 25500013 [TBL] [Abstract][Full Text] [Related]
34. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Nicole S; Chaouch A; Torbergsen T; Bauché S; de Bruyckere E; Fontenille MJ; Horn MA; van Ghelue M; Løseth S; Issop Y; Cox D; Müller JS; Evangelista T; Stålberg E; Ioos C; Barois A; Brochier G; Sternberg D; Fournier E; Hantaï D; Abicht A; Dusl M; Laval SH; Griffin H; Eymard B; Lochmüller H Brain; 2014 Sep; 137(Pt 9):2429-43. PubMed ID: 24951643 [TBL] [Abstract][Full Text] [Related]
35. Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1. Finlayson S; Palace J; Belaya K; Walls TJ; Norwood F; Burke G; Holton JL; Pascual-Pascual SI; Cossins J; Beeson D J Neurol Neurosurg Psychiatry; 2013 Oct; 84(10):1119-25. PubMed ID: 23447650 [TBL] [Abstract][Full Text] [Related]
36. Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review. Luan X; Tian W; Cao L Clin Neurol Neurosurg; 2016 Nov; 150():41-45. PubMed ID: 27588369 [TBL] [Abstract][Full Text] [Related]