Below are the most recent publications written about "Muscle Hypotonia" by people in Profiles.
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Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Sch?neborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, B?nnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun. 2021 05 07; 12(1):2558.
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De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT. Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes. 2017 07; 66(7):2044-2053.
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Zhang CH, Wang P, Liu DH, Chen CP, Zhao W, Chen X, Chen C, He WQ, Qiao YN, Tao T, Sun J, Peng YJ, Lu P, Zheng K, Craige SM, Lifshitz LM, Keaney JF, Fogarty KE, ZhuGe R, Zhu MS. The molecular basis of the genesis of basal tone in internal anal sphincter. Nat Commun. 2016 Apr 22; 7:11358.
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Krenzer M, Anaclet C, Vetrivelan R, Wang N, Vong L, Lowell BB, Fuller PM, Lu J. Brainstem and spinal cord circuitry regulating REM sleep and muscle atonia. PLoS One. 2011; 6(10):e24998.
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Goldberg AP, Tobin J, Daigneau J, Griffith RT, Reinert SE, Jenny C. Bruising frequency and patterns in children with physical disabilities. Pediatrics. 2009 Aug; 124(2):604-9.
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Lyons MJ, Wood T, Espinoza L, Stensland HM, Holden KR. Early onset alpha-mannosidosis with slow progression in three Hispanic males. Dev Med Child Neurol. 2007 Nov; 49(11):854-7.
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Brown RH, Grant PE, Pierson CR. Case records of the Massachusetts General Hospital. Case 35-2006. A newborn boy with hypotonia. N Engl J Med. 2006 Nov 16; 355(20):2132-42.
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Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT. Non-lethal congenital hypotonia due to glycogen storage disease type IV. Am J Med Genet A. 2006 Apr 15; 140(8):878-82.
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Fisher M, Sargent J, Drachman D. Familial inverted choreoathetosis. Neurology. 1979 Dec; 29(12):1627-31.