Passantino R, Cascio C, Deidda I, Galizzi G, Russo D, Spedale G, Guarneri P.Identifying protein partners of CLN8, an ER-resident protein involved in neuronalceroid lipofuscinosis. Biochim Biophys Acta. 2013 Mar;1833(3):529-40. doi:10.1016/j.bbamcr.2012.10.030.
Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, Dufke A, EndersH, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic toNorthern epilepsy. Hum Mutat. 2004 Apr;23(4):300-5.
Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R. NovelCLN8 mutations confirm the clinical and ethnic diversity of late infantileneuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. doi:10.1111/j.1399-0004.2009.01285.x.
Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S,Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, BassiMT. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Hum Mutat. 2009Jul;30(7):1104-16. doi: 10.1002/humu.21012.
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