| 1 | Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. (22261744) | Uusi-Rauva K.... Jalanko A. | 2012 | DCTN1, RAB7A, CLN3 |
| 2 | 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 |
| 3 | An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American pati ents. (19793312) | Kohan R.... Halac I.N. | 2009 | TPP1 |
| 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 | A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. (19135632) | Aberg L.... Autti T. | 2009 | CLN3 |
| 9 | Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. (18343701) | Sleat D.E.... Lobel P. | 2008 | TPP1 |
| 10 | Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. (18362923) | Chang M.... Davidson B.L. | 2008 | TPP1 |
| 11 | 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 |
| 12 | Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis. (18344450) | Katz M.L.... Narfstrom K. | 2008 | TPP1 |
| 13 | Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. (17607606) | Cannelli N.... Santorelli F.M. | 2007 | CLN5 |
| 14 | Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency. (17388982) | Kalviainen R.... van Diggelen O.P. | 2007 | PPT1 |
| 15 | 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 |
| 16 | Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. (17261688) | Ramadan H.... Mole S.E. | 2007 | PPT1 |
| 17 | Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. (17023146) | Cooper J.D.... Mitchison H.M. | 2006 | CLN5, CLN6, CLN8 |
| 18 | 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 |
| 19 | 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 |
| 20 | Characterization of candidate genes for neuronal ceroid lipofuscinosis in dog. (15958790) | Drogemuller C.... Distl O. | 2005 | PPT1, CLN5, CLN6 |
| 21 | A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. (15728307) | Pineda-Trujillo N.... Ruiz-Linares A. | 2005 | CLN5 |
| 22 | Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis. (15610613) | Crystal R.G.... Voss H. | 2004 | TPP1 |
| 23 | Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). (15464427) | Weleber R.G.... Milam A.H. | 2004 | PPT1 |
| 24 | R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. (12950156) | Barisic N.... Blau N. | 2003 | TPP1 |
| 25 | 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 |
| 26 | Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. (11971870) | Isosomppi J.... Peltonen L. | 2002 | CLN5 |
| 27 | Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation. (12698559) | Bukina A.M.... Il'ina E.S. | 2002 | TPP1 |
| 28 | Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). (11588995) | van Diggelen O.P.... Voznyi Y.V. | 2001 | TPP1 |
| 29 | Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. (11589009) | Sleat D.E.... Lobel P. | 2001 | TPP1 |
| 30 | Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product. (11547947) | Kurachi Y.... Takashima S. | 2001 | TPP1 |
| 31 | 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 |
| 32 | New mutations in the neuronal ceroid lipofuscinosis genes. (11589012) | Mole S.E.... Taschner P.E. | 2001 | TPP1, CLN5 |
| 33 | The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. (10781062) | Bellizzi J.J.... Clardy J. | 2000 | PPT1 |
| 34 | Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. (10649502) | Waliany S.... Hofmann S.L. | 2000 | PROC, PPT1 |
| 35 | 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 |
| 36 | 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 |
| 37 | In vitro depalmitoylation of neurospecific peptides: implication for infantile neuronal ceroid lipofuscinosis. (10658183) | Cho S.... Dawson G. | 2000 | PPT1 |
| 38 | Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis. (10356317) | Oswald M.J.... Damak S. | 1999 | CLN3 |
| 39 | CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. (9662406) | Savukoski M.... Peltonen L. | 1998 | CLN5, BAMBI |
| 40 | Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. (9450775) | Wisniewski K.E.... Wisniewski T.M. | 1998 | CLN3 |
| 41 | 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 |
| 42 | Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs. (9800325) | Lingaas F.... Dolf G. | 1998 | CLN3 |
| 43 | From locus to cellular disturbances: positional cloning of the infantile neuronal ceroid lipofuscinosis gene. (9151310) | Hellsten E.... Peltonen L. | 1997 | PPT1 |
| 44 | Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis. (8633062) | Crews C.M.... Schreiber S.L. | 1996 | PPT1 |
| 45 | Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). (7887420) | Taschner P.E.... Breuning M.H. | 1995 | CLN3 |
| 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 |
