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Journal Abstract Search

784 related items for PubMed ID: 27553878

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  • 4. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
    Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole SE.
    Hum Mutat; 2019 Nov; 40(11):1924-1938. PubMed ID: 31283065
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  • 5. CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
    Kohlschütter A, Schulz A.
    Pediatr Endocrinol Rev; 2016 Jun; 13 Suppl 1():682-8. PubMed ID: 27491216
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  • 7. Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
    Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.
    Pediatr Neurol; 2009 Oct; 41(4):297-300. PubMed ID: 19748052
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  • 8. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
    Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ.
    Hum Mutat; 2013 May; 34(5):706-13. PubMed ID: 23418007
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  • 9. Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
    Katz ML, Coates JR, Sibigtroth CM, Taylor JD, Carpentier M, Young WM, Wininger FA, Kennedy D, Vuillemenot BR, O'Neill CA.
    J Neurosci Res; 2014 Nov; 92(11):1591-8. PubMed ID: 24938720
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  • 10. A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
    Yu F, Liu XM, Chen YH, Zhang SQ, Wang K.
    Neurol Sci; 2015 Oct; 36(10):1917-9. PubMed ID: 26032578
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  • 12. A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
    Lourenço CM, Sallum JMF, Pereira AM, Girotto PN, Kok F, Vilela DRF, Barron E, Pessoa A, Oliveira BM.
    Arq Neuropsiquiatr; 2024 May; 82(5):1-8. PubMed ID: 38763144
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  • 13.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mole SE, Williams RE.
    ; 1993 May. PubMed ID: 20301601
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  • 14. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
    Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH.
    Seizure; 2019 Jul; 69():180-185. PubMed ID: 31059981
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  • 15. Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening.
    Itagaki R, Endo M, Yanagisawa H, Hossain MA, Akiyama K, Yaginuma K, Miyajima T, Wu C, Iwamoto T, Igarashi J, Kobayashi Y, Tohyama J, Iwama K, Matsumoto N, Shintaku H, Eto Y.
    Mol Genet Metab; 2018 May; 124(1):64-70. PubMed ID: 29599076
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  • 16. Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease.
    Munesue Y, Ageyama N, Kimura N, Takahashi I, Nakayama S, Okabayashi S, Katakai Y, Koie H, Yagami KI, Ishii K, Tamaoka A, Yasutomi Y, Shimozawa N.
    Exp Neurol; 2023 May; 363():114381. PubMed ID: 36918063
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  • 17. Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
    Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramírez AM, Noher de Halac I.
    Gene; 2013 Mar 01; 516(1):114-21. PubMed ID: 23266810
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  • 18. Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis.
    Vuillemenot BR, Kennedy D, Cooper JD, Wong AM, Sri S, Doeleman T, Katz ML, Coates JR, Johnson GC, Reed RP, Adams EL, Butt MT, Musson DG, Henshaw J, Keve S, Cahayag R, Tsuruda LS, O'Neill CA.
    Mol Genet Metab; 2015 Feb 01; 114(2):281-93. PubMed ID: 25257657
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  • 20. Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2.
    Nakashima S, Hamada M, Kimura T, Tanifuji S, Takahashi A, Yashita D, Kakimoto Y, Matsukawa T, Ishiura H, Toda T.
    Intern Med; 2024 Jun 15; 63(12):1807-1812. PubMed ID: 37926545
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