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.
46. A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report. Sun G; Yao F; Tian Z; Ma T; Yang Z BMC Med Genet; 2018 Oct; 19(1):177. PubMed ID: 30285654 [TBL] [Abstract][Full Text] [Related]
47. Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. Katata Y; Uematsu M; Sato H; Suzuki S; Nakayama T; Kubota Y; Kobayashi T; Hino-Fukuyo N; Saitsu H; Kure S Brain Dev; 2016 Mar; 38(3):341-5. PubMed ID: 26443629 [TBL] [Abstract][Full Text] [Related]
48. Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. Cannelli N; Cassandrini D; Bertini E; Striano P; Fusco L; Gaggero R; Specchio N; Biancheri R; Vigevano F; Bruno C; Simonati A; Zara F; Santorelli FM Neurogenetics; 2006 May; 7(2):111-7. PubMed ID: 16570191 [TBL] [Abstract][Full Text] [Related]
53. DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses. Syvänen AC; Järvelä I; Paunio T; Vesa J Neuropediatrics; 1997 Feb; 28(1):63-6. PubMed ID: 9151326 [TBL] [Abstract][Full Text] [Related]
54. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. Stogmann E; El Tawil S; Wagenstaller J; Gaber A; Edris S; Abdelhady A; Assem-Hilger E; Leutmezer F; Bonelli S; Baumgartner C; Zimprich F; Strom TM; Zimprich A Neurogenetics; 2009 Feb; 10(1):73-7. PubMed ID: 18850119 [TBL] [Abstract][Full Text] [Related]
55. From locus to cellular disturbances: positional cloning of the infantile neuronal ceroid lipofuscinosis gene. Hellsten E; Vesa J; Jalanko A; Peltonen L Neuropediatrics; 1997 Feb; 28(1):9-11. PubMed ID: 9151310 [TBL] [Abstract][Full Text] [Related]
56. Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. Sahin Y; Güngör O; Gormez Z; Demirci H; Ergüner B; Güngör G; Dilber C Acta Neurol Belg; 2017 Mar; 117(1):159-167. PubMed ID: 27844444 [TBL] [Abstract][Full Text] [Related]
57. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. Guo J; O'Brien DP; Mhlanga-Mutangadura T; Olby NJ; Taylor JF; Schnabel RD; Katz ML; Johnson GS BMC Vet Res; 2015 Jan; 10():960. PubMed ID: 25551667 [TBL] [Abstract][Full Text] [Related]
58. Novel neuroimaging finding in palmitoyl protein thioesterase-1-related neuronal ceroid lipofuscinosis. Kamate M; Hattiholi V Pediatr Neurol; 2012 May; 46(5):325-8. PubMed ID: 22520356 [TBL] [Abstract][Full Text] [Related]
59. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. Kwon JM; Rothberg PG; Leman AR; Weimer JM; Mink JW; Pearce DA Neurosci Lett; 2005 Oct; 387(2):111-4. PubMed ID: 16087292 [TBL] [Abstract][Full Text] [Related]
60. Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands. Taschner PE; Franken PF; van Berkel L; Breuning MH Mol Genet Metab; 1999 Apr; 66(4):339-43. PubMed ID: 10191126 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]