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	121.	Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. [electronic resource] by Sleat, D E Sohar, I Gin, R M Lobel, P Producer: 20011101 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 5 Suppl A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	122.	Screening and functional pathway analysis of genes associated with pediatric allergic asthma using a DNA microarray. [electronic resource] by Lu, Li-Qun Liao, Wei Producer: 20151125 In: Molecular medicine reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	123.	Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. [electronic resource] by Mitchell, W A Wheeler, R B Sharp, J D Bate, S L Gardiner, R M Ranta, U S Lonka, L Williams, R E Lehesjoki, A E Mole, S E Producer: 20011101 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 5 Suppl A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	124.	Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis. [electronic resource] by Bodzioch, M Aslanidis, C Kacinski, M Zhong, N Wisniewski, K E Schmitz, G Producer: 20001025 In: Clinical chemistry vol. 46 Availability: No items available. Save to lists Add to cart (remove)
	125.	A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL. [electronic resource] by Simonati, A Santorum, E Tessa, A Polo, A Simonetti, F Bernardina, B D Santorelli, F M Rizzuto, N Producer: 20010531 In: Neuropediatrics vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays. [electronic resource] by Sohar, I Lin, L Lobel, P Producer: 20000727 In: Clinical chemistry vol. 46 Availability: No items available. Save to lists Add to cart (remove)
	127.	Purification and characterization of bovine brain lysosomal pepstatin-insensitive proteinase, the gene product deficient in the human late-infantile neuronal ceroid lipofuscinosis. [electronic resource] by Junaid, M A Wu, G Pullarkat, R K Producer: 20000118 In: Journal of neurochemistry vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	128.	Different molecular mechanisms involved in spontaneous and oxidative stress-induced mitochondrial fragmentation in tripeptidyl peptidase-1 (TPP-1)-deficient fibroblasts. [electronic resource] by Van Beersel, Guillaume Tihon, Eliane Demine, Stéphane Hamer, Isabelle Jadot, Michel Arnould, Thierry Producer: 20140904 In: Bioscience reports vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing. [electronic resource] by Volozonoka, Ludmila Perminov, Dmitry Korņejeva, Liene Alkšere, Baiba Novikova, Natālija Pīmane, Evija Jokste Blumberga, Arita Kempa, Inga Miskova, Anna Gailīte, Linda Fodina, Violeta Producer: 20181108 In: Journal of assisted reproduction and genetics vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	130.	Prenatal testing for late infantile neuronal ceroid lipofuscinosis. [electronic resource] by Berry-Kravis, E Sleat, D E Sohar, I Meyer, P Donnelly, R Lobel, P Producer: 20000217 In: Annals of neurology vol. 47 Availability: No items available. Save to lists Add to cart (remove)
	131.	Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material. [electronic resource] by Xu, Su Sleat, David E Jadot, Michel Lobel, Peter Producer: 20100723 In: The Biochemical journal vol. 428 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	New families of carboxyl peptidases: serine-carboxyl peptidases and glutamic peptidases. [electronic resource] by Oda, Kohei Producer: 20120518 In: Journal of biochemistry vol. 151 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres. [electronic resource] by Yanowsky, Kira Barroso, Alicia Osorio, Ana Urioste, Miguel Benitez, Javier Martinez-Delgado, Beatriz Producer: 20121213 In: Breast cancer research and treatment vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	134.	Catalytic residues and substrate specificity of recombinant human tripeptidyl peptidase I (CLN2). [electronic resource] by Oyama, Hiroshi Fujisawa, Tomoko Suzuki, Takao Dunn, Ben M Wlodawer, Alexander Oda, Kohei Producer: 20050929 In: Journal of biochemistry vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	135.	Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. [electronic resource] by Rawlings, N D Barrett, A J Producer: 19990302 In: Biochimica et biophysica acta vol. 1429 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	136.	OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation. [electronic resource] by Wan, Ma Qin, Jun Songyang, Zhou Liu, Dan Producer: 20091106 In: The Journal of biological chemistry vol. 284 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	137.	Lysosomal degradation products induce [electronic resource] by Newton, Patrice Thomas, David R Reed, Shawna C O Lau, Nicole Xu, Bangyan Ong, Sze Ying Pasricha, Shivani Madhamshettiwar, Piyush B Edgington-Mitchell, Laura E Simpson, Kaylene J Roy, Craig R Newton, Hayley J Producer: 20200707 In: Proceedings of the National Academy of Sciences of the United States of America vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	138.	Neuronal ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type--re-revisited. [electronic resource] by Wheeler, R B Schlie, M Kominami, E Gerhard, L Goebel, H H Producer: 20020416 In: Acta neuropathologica vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	139.	A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies. [electronic resource] by Geraets, Ryan D Langin, Logan M Cain, Jacob T Parker, Camille M Beraldi, Rosanna Kovacs, Attila D Weimer, Jill M Pearce, David A Producer: 20170905 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	140.	A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16. [electronic resource] by Williams, R Santavuori, P Peltonen, L Gardiner, R M Järvelä, I Producer: 19940804 In: Genomics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 415 results.