Similar articles for PMID: 31982899

Year	Number of Results
1993	2
1994	2
1995	2
1996	1
1997	4
1998	4
1999	6
2000	5
2001	8
2003	1
2004	3
2005	2
2006	5
2007	2
2008	4
2009	12
2010	7
2011	5
2012	10
2013	17
2014	3
2015	2
2016	7
2017	5
2018	6
2019	9
2020	12
2021	18
2022	20
2023	3
2024	0

1

Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia.

Alkhars FZ, Bo Ali AY, Almohanna MA, Almajhad NA. Alkhars FZ, et al. Neurosciences (Riyadh). 2020 Jan;25(1):65-69. doi: 10.17712/nsj.2020.1.20190103. Neurosciences (Riyadh). 2020. PMID: 31982899 Free PMC article.

2

Neuronal Ceroid-Lipofuscinoses – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Mole SE, Williams RE. Mole SE, et al. 2001 Oct 10 [updated 2013 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Oct 10 [updated 2013 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301601 Free Books & Documents. Review.

3

The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.

Parvin S, Rezazadeh M, Hosseinzadeh H, Moradi M, Shiva S, Gharesouran J. Parvin S, et al. Neuromolecular Med. 2019 Jun;21(2):160-169. doi: 10.1007/s12017-019-08529-7. Epub 2019 Mar 27. Neuromolecular Med. 2019. PMID: 30919163

4

Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.

Biswas A, Krishnan P, Amirabadi A, Blaser S, Mercimek-Andrews S, Shroff M. Biswas A, et al. AJNR Am J Neuroradiol. 2020 Oct;41(10):1930-1936. doi: 10.3174/ajnr.A6726. Epub 2020 Aug 27. AJNR Am J Neuroradiol. 2020. PMID: 32855186 Free PMC article.

5

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M, Lehesjoki AE, Mole SE. Kousi M, et al. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 21990111 Review.

6

A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.

Sun G, Yao F, Tian Z, Ma T, Yang Z. Sun G, et al. BMC Med Genet. 2018 Oct 1;19(1):177. doi: 10.1186/s12881-018-0690-x. BMC Med Genet. 2018. PMID: 30285654 Free PMC article.

7

Neuronal ceroid lipofuscinoses: classification and diagnosis.

Wisniewski KE, Kida E, Golabek AA, Kaczmarski W, Connell F, Zhong N. Wisniewski KE, et al. Adv Genet. 2001;45:1-34. doi: 10.1016/s0065-2660(01)45002-4. Adv Genet. 2001. PMID: 11332767 Review.

8

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

Sharp JD, Wheeler RB, Lake BD, Savukoski M, Järvelä IE, Peltonen L, Gardiner RM, Williams RE. Sharp JD, et al. Hum Mol Genet. 1997 Apr;6(4):591-5. doi: 10.1093/hmg/6.4.591. Hum Mol Genet. 1997. PMID: 9097964

9

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.

Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Fietz M, et al. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25. Mol Genet Metab. 2016. PMID: 27553878 Free article.

10

Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders.

Santavuori P, Vanhanen SL, Autti T. Santavuori P, et al. Eur J Paediatr Neurol. 2001;5 Suppl A:157-61. doi: 10.1053/ejpn.2000.0454. Eur J Paediatr Neurol. 2001. PMID: 11588989 Review.

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