| 1 | A truncating mutation in ATP13A2 is responsible for a dult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. (21362476) | Farias F.H.... Katz M.L. | 2011 | ATP13A2 |
| 2 | Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. (21820099) | Noskova L.... Kmoch S. | 2011 | DNAJC5 |
| 3 | Expression and lysosomal targeting of CLN7, a major f acilitator superfamily transporter associated with variant late-infantile neuro nal ceroid lipofuscinosis. (20826447) | Sharifi A.... KyttAolAo A. | 2010 | MFSD8 |
| 4 | Neuroprotection of host cells by human central nervou s system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosi s. (19733542) | Tamaki S.J.... Uchida N. | 2009 | PPT1 |
| 5 | Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. (19177532) | Aiello C.... Santorelli F.M. | 2009 | CLN5, MFSD8 |
| 6 | Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis. (19761846) | Kuronen M.... Myllykangas L. | 2009 | CTSD |
| 7 | A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. (18850119) | Stogmann E.... Zimprich A. | 2009 | TPP1, CLN5, MFSD8 |
| 8 | Novel interactions of CLN5 support molecular networki ng between Neuronal Ceroid Lipofuscinosis proteins. (19941651) | Lyly A.... KyttAolAo A. | 2009 | PPT1, CLN5, CLN6 |
| 9 | Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. (18362923) | Chang M.... Davidson B.L. | 2008 | TPP1 |
| 10 | Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models. (18678598) | Chan C.H.... Pearce D.A. | 2008 | CLN3 |
| 11 | Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis. (18004671) | Katz M.L.... Johnson G.S. | 2007 | HIST4H4 |
| 12 | The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. (17564970) | Siintola E.... Lehesjoki A.-E. | 2007 | CLN6, CLN8, MFSD8 |
| 13 | Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. (17261688) | Ramadan H.... Mole S.E. | 2007 | PPT1 |
| 14 | Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroid lipofuscinosis. (16601878) | Lu J.Y.... Hofmann S.L. | 2006 | PPT1 |
| 15 | Ocular phenotype in a mouse gene knockout model for infantile neuronal ceroid lipofuscinosis. (16881055) | Lei B.... Katz M.L. | 2006 | PPT1 |
| 16 | Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. (17023146) | Cooper J.D.... Mitchison H.M. | 2006 | CLN5, CLN6, CLN8 |
| 17 | Overexpression in colorectal carcinoma of two lysosomal enzymes, CLN2 and CLN1, involved in neuronal ceroid lipofuscinosis. (16518810) | Tsukamoto T.... Konishi F. | 2006 | CTSD, CTSB, PPT1 |
| 18 | A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. (16621647) | Awano T.... Johnson G.S. | 2006 | TPP1 |
| 19 | A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. (15629147) | Katz M.L.... Johnson G.S. | 2005 | CLN8 |
| 20 | A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. (15728307) | Pineda-Trujillo N.... Ruiz-Linares A. | 2005 | CLN5 |
| 21 | Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. (15024724) | Ranta S.... Lehesjoki A.-E. | 2004 | CLN8 |
| 22 | Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. (12796825) | Teixeira C.... Ribeiro M.G. | 2003 | PPT1, TPP1, CLN3 |
| 23 | Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. (11791207) | Gao H.... MacDonald M.E. | 2002 | CLN6 |
| 24 | Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. (12376936) | Steinfeld R.... Kohlschutter A. | 2002 | TPP1 |
| 25 | Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. (11589000) | Mitchell W.A.... Mole S.E. | 2001 | MFSD8 |
| 26 | Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product. (11547947) | Kurachi Y.... Takashima S. | 2001 | TPP1 |
| 27 | First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis. (11241534) | Kleijer W.J.... Galjaard R.J. | 2001 | TPP1 |
| 28 | New mutations in the neuronal ceroid lipofuscinosis genes. (11589012) | Mole S.E.... Taschner P.E. | 2001 | TPP1, CLN5 |
| 29 | Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi. (10740208) | Young E.P.... Lake B.D. | 2000 | TPP1 |
| 30 | Purification and characterization of bovine brain lysosomal pepstatin-insensitive proteinase, the gene product deficient in the human late-infantile neuronal ceroid lipofuscinosis. (10617131) | Junaid M.A.... Pullarkat R.K. | 2000 | TPP1 |
| 31 | Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase. (10965052) | Ezaki J.... Kominami E. | 2000 | TPP1 |
| 32 | In vitro depalmitoylation of neurospecific peptides: implication for infantile neuronal ceroid lipofuscinosis. (10658183) | Cho S.... Dawson G. | 2000 | PPT1 |
| 33 | Mutational analysis of the defective protease in classic late- infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. (10330339) | Sleat D.E.... Lobel P. | 1999 | TPP1 |
| 34 | A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. (10874636) | Voznyi Y.V.... van Diggelen O.P. | 1999 | PPT1 |
| 35 | Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis. (10356317) | Oswald M.J.... Damak S. | 1999 | CLN3 |
| 36 | A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase. (10349869) | Ezaki J.... Kominami E. | 1999 | TPP1 |
| 37 | A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). (10440905) | Katz M.L.... Johnson G.S. | 1999 | CLN3 |
| 38 | Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. (9450775) | Wisniewski K.E.... Wisniewski T.M. | 1998 | CLN3 |
| 39 | Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6. (9733028) | Broom M.F.... Hill D.F. | 1998 | CLN5 |
| 40 | Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. (9788728) | Zhong N.... Brown W.T. | 1998 | TPP1 |
| 41 | Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs. (9800325) | Lingaas F.... Dolf G. | 1998 | CLN3 |
| 42 | Association of mutations in a lysosomal protein with classical late- infantile neuronal ceroid lipofuscinosis. (9295267) | Sleat D.E.... Lobel P. | 1997 | TPP1 |
| 43 | The Brn-3a transcription factor gene (POU4F1) maps close to the locus for the variant late infantile form of neuronal ceroid-lipofuscinosis. (8941380) | Still I.H.... Cowell J. | 1996 | POU4F1 |
| 44 | Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. (8895569) | Hellsten E.... Peltonen L. | 1996 | PPT1 |
| 45 | Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis. (8633062) | Crews C.M.... Schreiber S.L. | 1996 | PPT1 |
| 46 | Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. (7637805) | Vesa J.... Peltonen L. | 1995 | PPT1 |
| 47 | Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis. (8004106) | Vesa J.... Peltonen L. | 1994 | SCP2 |
| 48 | A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjogren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16. (8020979) | Williams R.... Jarvela I. | 1994 | PPT1 |
| 49 | Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease). (1533218) | Kominami E.... Wolfe L.S. | 1992 | COX4I1 |
| 50 | Adult neuronal ceroid-lipofuscinosis. (2663281) | Goebel H.H.... Braak H. | 1989 | DNAJC5 |
