PubMed for id: 388595

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37573956,33242182,31029456,30295347,27881166,26443629,25333361,23622391,23274885,22748208,34684815,38231304,34220062,32983231,28442266,26026925,25989315,25962910,24665282,23402926,38382230,37550174,37536959,37280710,37231125,36928678,36638890,36571524,36398398,35922766,35505348,34986040,34866617,34700111,34486182,34481439,34474241,34399803,34377212,34117373,33960213,33798445,33783721,33772352,33766967,33735526,33476484,33432562,33280099,33183916,33112121,32875576,32626992,32418279,32409007,31858178,31762033,31665838,31603843,31374462,31353855,31216804,31035234,30955266,30903322,30451971,30409749,30399382,30382391,30334528,30270337,30180405,30171078,29894724,29760464,29329111,28767715,28380698,28378817,28003644,27934592,27888502,27854233,27742667,27632409,27621064,27402852,26923721,26578817,26552558,26526000,26216881,26115733,26104464,26060909,26001801,25954030,25752200,25683376,25578555,25559684,25401298,25270369,25246353,25207879,25079578,25038123,25023721,25015673,24981774,24838580,24612676,24476000,24419970,24199594,24063889,24011626,23545419,23390135,23263592,23138527,22883287,22872568,22638997,22476991,22411789,22411243,22186026,22114216,21996807,21967765,21957023,21909428,21850007,21757738,21755114,21710140,21679777,21473984,21426326,21371719,21353634,21303704,21156839,21087195,20976001,20966051,20931525,20857335,20721566,20589872,20538597,20307947,20177121,20152902,20083621,20083416,19704079,19697886,19616813,19370769,19273760,19269823,19170735,19087113,19027335,18471127,18311786,18308289,18256682,18027567,17646401,17452583,17361551,17175464,17132941,17129765,17078058,17028542,16967484,16686650,16529633,16155205,16134145,15781812,15780491,15767514,15750896,15634728,15543806,15351082,15329082,15328840,15304597,15233265,15223312,15126311,15111665,15046866,14967777,14756671,14705775,14653408,14512972,14510831,12861512,12804673,12787785,12782127,12722924,12638015,12595585,12560877,12542511,12371928,12215838,12177367,12166103,12160354,12019207,12005255,11959423,11907800,11880118,11857739,11800289,11735300,11709002,11701600,11697735,11579433,11553931,11532943,11524486,11297946,11240124,11175283,11160915,10932264,10928291,10927802,10904968,10872107,10807077,10675533,10660338,10564878,10445904,10441345,10092504,10073435,10025789,9931343,9889270,9772417,9771659,9650685,9360639,9342192,9159732,9153533,9139466,9126745,9090386,9073028,9070587,9058067,9054946,9052804,9012407,8985708,8963899,8893822,8891396,8836498,8812488,8809026,8679202,8660980,8596935,8541857,8530089,8525809,8500430,8447321,8389290,8386419,8332227,8293192,8277585,8239570,8215979,8186718,8162014,8139569,8109443,8104628,8077179,8060430,7952849,7882812,7874114,7803049,7732785,7633421,7628497,7614918,7603536,7603535,7603511,7603510,7603509,7485240,6810437,2529387,2456316,1901452,1673790,1641151,1591106,1591103,1463006,1329789,1293989,1228876,200053,153580,109240,103487,38614394,38595053,38581586,38565565,38565313,38561798,38512499,38500130,38497112,38490506,38483897,38478269,38473988,38422983,38421168,38408522,38402934,38397235,38397184,38382469,38379248,38376766,38364990,38355308,38353533,38347588,38333999,38330164,38315730,38315424,38311779,38294249,38276651,38241222,38221179,38185715,38184502,38182989,38158701,38145851,38124741,38118327,38116134,38111057,38101904,38081203,38073060,38072230,38067163,38058043,38014981,38003036,38002932,37996943,37983294,37981479,37941135,37926812,37917202,37872655,37864389,37830609,37769648,37761886,37755148,37751278,37749509,37749318,37747235,37742881,37726747,37666639,37656696,37652030,37641021,37633739,37597794,37586565,37567028,37558679,37549306,37530528,37530357,37522815,37490341,37490306,37488499,37475165,37471224,37468098,37450246,37436385,37431963,37421475,37406041,37400440,37400349,37384409,37364130,37354009,37347276,37347192,37328159,37321345,37312573,37286562,37277845,37274905,37266892,37239817,37220419,37215115,37202301,37175990,37161662,37160462,37137704,37130727,37127512,37115176,37115004,37114479,37108781,37081582,37081164,37072481,37071594,37039677,37036352,37017524,37014877,37000881,36992655,36971475,36960864,36952562,36948403,36939875,36936148,36930291,36924503,36922834,36915212,36906446,36892203,36889151,36884370,36882831,36877064,36871865,36868038,36853051,36840850,36835286,36833170,36825461,36822387,36799223,36791251,36773750,36769061,36720445,36717478,36708940,36656523,36652354,36651786,36645641,36639052,36638140,36621149[uid]

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The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.

Bernardi S, Gemignani F, Marchese M. Bernardi S, et al. Neurobiol Dis. 2023 Sep;185:106258. doi: 10.1016/j.nbd.2023.106258. Epub 2023 Aug 11. Neurobiol Dis. 2023. PMID: 37573956 Free PMC article. Review.

Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.

Specchio N, Ferretti A, Trivisano M, Pietrafusa N, Pepi C, Calabrese C, Livadiotti S, Simonetti A, Rossi P, Curatolo P, Vigevano F. Specchio N, et al. Drugs. 2021 Jan;81(1):101-123. doi: 10.1007/s40265-020-01440-7. Drugs. 2021. PMID: 33242182 Review.

Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation.

Matsumoto A, Nagashima M, Iwama K, Mizuguchi T, Makino S, Ikeda T, Muramatsu K, Matsumoto N, Yamagata T, Osaka H. Matsumoto A, et al. Brain Dev. 2019 Sep;41(8):726-730. doi: 10.1016/j.braindev.2019.04.009. Epub 2019 Apr 24. Brain Dev. 2019. PMID: 31029456

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM. Metz KA, et al. Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8. Ann Neurol. 2018. PMID: 30295347 Free PMC article.

Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis.

Huber RJ. Huber RJ. J Biomed Sci. 2016 Nov 24;23(1):83. doi: 10.1186/s12929-016-0301-0. J Biomed Sci. 2016. PMID: 27881166 Free PMC article. Review.

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. Katata Y, et al. Brain Dev. 2016 Mar;38(3):341-5. doi: 10.1016/j.braindev.2015.09.008. Epub 2015 Oct 9. Brain Dev. 2016. PMID: 26443629

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Patiño LC, Battu R, Ortega-Recalde O, Nallathambi J, Anandula VR, Renukaradhya U, Laissue P. Patiño LC, et al. PLoS One. 2014 Oct 15;9(10):e109576. doi: 10.1371/journal.pone.0109576. eCollection 2014. PLoS One. 2014. PMID: 25333361 Free PMC article.

Neuronal ceroid lipofuscinoses.

Chabrol B, Caillaud C, Minassian B. Chabrol B, et al. Handb Clin Neurol. 2013;113:1701-6. doi: 10.1016/B978-0-444-59565-2.00038-1. Handb Clin Neurol. 2013. PMID: 23622391 Review.

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.

Kmoch S, Stránecký V, Emes RD, Mitchison HM. Kmoch S, et al. Biochim Biophys Acta. 2013 Nov;1832(11):1831-41. doi: 10.1016/j.bbadis.2012.12.010. Epub 2012 Dec 26. Biochim Biophys Acta. 2013. PMID: 23274885 Free article. Review.

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. Staropoli JF, et al. Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28. Am J Hum Genet. 2012. PMID: 22748208 Free PMC article.

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