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Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P. Sleat DE, et al. Among authors: sklower brooks s. Am J Hum Genet. 1999 Jun;64(6):1511-23. doi: 10.1086/302427. Am J Hum Genet. 1999. PMID: 10330339 Free PMC article.
Studies of atypical JNCL suggest overlapping with other NCL forms.
Wisniewski KE, Zhong N, Kaczmarski W, Kaczmarski A, Sklower-Brooks S, Brown WT. Wisniewski KE, et al. Among authors: sklower brooks s. Pediatr Neurol. 1998 Jan;18(1):36-40. doi: 10.1016/s0887-8994(97)00188-4. Pediatr Neurol. 1998. PMID: 9492089 Clinical Trial.
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.
Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay AJ, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, Plessis G, Dale RC, Sklower Brooks S, Dziezyc K, Pollak P, Golmard JL, Vidailhet M, Brice A, Roze E. Méneret A, et al. Among authors: sklower brooks s. Neurology. 2014 Jun 3;82(22):1999-2002. doi: 10.1212/WNL.0000000000000477. Epub 2014 May 7. Neurology. 2014. PMID: 24808016 Free PMC article.
13 results