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Page 1
CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
Lesmana H, Vawter Lee M, Hosseini SA, Burrow TA, Hallinan B, Bove K, Schapiro M, Hopkin RJ. Lesmana H, et al. Pediatr Neurol. 2019 Apr;93:43-49. doi: 10.1016/j.pediatrneurol.2018.12.014. Epub 2018 Dec 28. Pediatr Neurol. 2019. PMID: 30686628 Review.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG; EuroEPINOMICS-RES Consortium; GRIN Consortium. Helbig I, et al. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104773 Free PMC article.
Long-read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities.
Sund KL, Liu J, Lee J, Garbe J, Abdelhamed Z, Maag C, Hallinan B, Wu SW, Sperry E, Deshpande A, Stottmann R, Smolarek TA, Dyer LM, Hestand MS. Sund KL, et al. Am J Med Genet A. 2024 Dec;194(12):e63818. doi: 10.1002/ajmg.a.63818. Epub 2024 Jul 23. Am J Med Genet A. 2024. PMID: 39041659
Narcolepsy-cataplexy: is streptococcal infection a trigger?
Natarajan N, Jain SV, Chaudhry H, Hallinan BE, Simakajornboon N. Natarajan N, et al. Among authors: hallinan be. J Clin Sleep Med. 2013 Mar 15;9(3):269-70. doi: 10.5664/jcsm.2498. J Clin Sleep Med. 2013. PMID: 23493659 Free PMC article.
21 results