35628533 32601357 27282395 31678162 23775425 29505813 33924963 33365208 32954262 34149605 31783156 30726573 31394733 35887392 23682122 27619535 33799982 29064079 36064065 24531622 29074404 28595912 34912207 26987902 31456210 26948439 25855184 3065556 - Search Results

Year	Number of Results
2013	6
2014	16
2015	9
2016	13
2017	10
2018	12
2019	14
2020	8
2021	13
2022	11
2023	0

1

Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.

Kaminiów K, Kozak S, Paprocka J. Kaminiów K, et al. Int J Mol Sci. 2022 May 20;23(10):5729. doi: 10.3390/ijms23105729. Int J Mol Sci. 2022. PMID: 35628533 Free PMC article. Review.

2

A tailored Cln3^Q352X mouse model for testing therapeutic interventions in CLN3 Batten disease.

Langin L, Johnson TB, Kovács AD, Pearce DA, Weimer JM. Langin L, et al. Sci Rep. 2020 Jun 29;10(1):10591. doi: 10.1038/s41598-020-67478-5. Sci Rep. 2020. PMID: 32601357 Free PMC article.

3

A familial ATP13A2 mutation enhances alpha-synuclein aggregation and promotes cell death.

Lopes da Fonseca T, Pinho R, Outeiro TF. Lopes da Fonseca T, et al. Hum Mol Genet. 2016 Jul 15;25(14):2959-2971. doi: 10.1093/hmg/ddw147. Epub 2016 Jun 8. Hum Mol Genet. 2016. PMID: 27282395

4

Pathomechanisms in the neuronal ceroid lipofuscinoses.

Nelvagal HR, Lange J, Takahashi K, Tarczyluk-Wells MA, Cooper JD. Nelvagal HR, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165570. doi: 10.1016/j.bbadis.2019.165570. Epub 2019 Oct 31. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31678162 Free article. Review.

5

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Cotman SL, Karaa A, Staropoli JF, Sims KB. Cotman SL, et al. Curr Neurol Neurosci Rep. 2013 Aug;13(8):366. doi: 10.1007/s11910-013-0366-z. Curr Neurol Neurosci Rep. 2013. PMID: 23775425 Free PMC article. Review.

6

Lysosomal response in relation to α-synuclein pathology differs between Parkinson's disease and multiple system atrophy.

Puska G, Lutz MI, Molnar K, Regelsberger G, Ricken G, Pirker W, Laszlo L, Kovacs GG. Puska G, et al. Neurobiol Dis. 2018 Jun;114:140-152. doi: 10.1016/j.nbd.2018.02.019. Epub 2018 Mar 2. Neurobiol Dis. 2018. PMID: 29505813

7

Genes Implicated in Familial Parkinson's Disease Provide a Dual Picture of Nigral Dopaminergic Neurodegeneration with Mitochondria Taking Center Stage.

Franco R, Rivas-Santisteban R, Navarro G, Pinna A, Reyes-Resina I. Franco R, et al. Int J Mol Sci. 2021 Apr 28;22(9):4643. doi: 10.3390/ijms22094643. Int J Mol Sci. 2021. PMID: 33924963 Free PMC article. Review.

8

Advances in the Treatment of Neuronal Ceroid Lipofuscinosis.

Rosenberg JB, Chen A, Kaminsky SM, Crystal RG, Sondhi D. Rosenberg JB, et al. Expert Opin Orphan Drugs. 2019;7(11):473-500. doi: 10.1080/21678707.2019.1684258. Epub 2019 Nov 27. Expert Opin Orphan Drugs. 2019. PMID: 33365208 Free PMC article.

9

Phenotypic assays in yeast and zebrafish reveal drugs that rescue ATP13A2 deficiency.

Heins-Marroquin U, Jung PP, Cordero-Maldonado ML, Crawford AD, Linster CL. Heins-Marroquin U, et al. Brain Commun. 2019 Sep 27;1(1):fcz019. doi: 10.1093/braincomms/fcz019. eCollection 2019. Brain Commun. 2019. PMID: 32954262 Free PMC article.

10

Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.

Vieira SRL, Morris HR. Vieira SRL, et al. Front Neurol. 2021 Jun 4;12:679927. doi: 10.3389/fneur.2021.679927. eCollection 2021. Front Neurol. 2021. PMID: 34149605 Free PMC article. Review.

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