Similar articles for PMID: 9425237

Year	Number of Results
1987	1
1988	1
1990	2
1991	3
1993	4
1994	1
1995	5
1996	5
1997	10
1998	10
1999	11
2000	8
2001	13
2002	2
2003	3
2004	2
2005	5
2006	6
2007	2
2008	5
2009	7
2010	2
2011	5
2012	6
2013	12
2014	3
2015	5
2016	3
2017	2
2018	2
2019	2
2020	3
2021	5
2022	1
2024	0

1

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM. Mitchison HM, et al. Hum Mol Genet. 1998 Feb;7(2):291-7. doi: 10.1093/hmg/7.2.291. Hum Mol Genet. 1998. PMID: 9425237

2

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.

Hofmann SL, Das AK, Yi W, Lu JY, Wisniewski KE. Hofmann SL, et al. Mol Genet Metab. 1999 Apr;66(4):234-9. doi: 10.1006/mgme.1999.2803. Mol Genet Metab. 1999. PMID: 10191107

3

Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).

Salonen T, Järvelä I, Peltonen L, Jalanko A. Salonen T, et al. Hum Mutat. 2000;15(3):273-9. doi: 10.1002/(SICI)1098-1004(200003)15:3<273::AID-HUMU8>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10679943

4

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.

Kälviäinen R, Eriksson K, Losekoot M, Sorri I, Harvima I, Santavuori P, Järvelä I, Autti T, Vanninen R, Salmenperä T, van Diggelen OP. Kälviäinen R, et al. Eur J Neurol. 2007 Apr;14(4):369-72. doi: 10.1111/j.1468-1331.2007.01668.x. Eur J Neurol. 2007. PMID: 17388982

5

Neuronal ceroid lipofuscinoses: research update.

Wisniewski KE, Kida E, Connell F, Zhong N. Wisniewski KE, et al. Neurol Sci. 2000;21(3 Suppl):S49-56. doi: 10.1007/s100720070040. Neurol Sci. 2000. PMID: 11073228 Review.

6

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Das AK, Becerra CH, Yi W, Lu JY, Siakotos AN, Wisniewski KE, Hofmann SL. Das AK, et al. J Clin Invest. 1998 Jul 15;102(2):361-70. doi: 10.1172/JCI3112. J Clin Invest. 1998. PMID: 9664077 Free PMC article.

7

Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.

Appu AP, Bagh MB, Sadhukhan T, Mondal A, Casey S, Mukherjee AB. Appu AP, et al. J Inherit Metab Dis. 2019 Sep;42(5):944-954. doi: 10.1002/jimd.12106. Epub 2019 May 14. J Inherit Metab Dis. 2019. PMID: 31025705 Free PMC article.

8

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.

Waliany S, Das AK, Gaben A, Wisniewski KE, Hofmann SL. Waliany S, et al. Hum Mutat. 2000 Feb;15(2):206-7. doi: 10.1002/(SICI)1098-1004(200002)15:2<206::AID-HUMU14>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10649502

9

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JB, Gardiner RM, Mole SE. O'Rawe A, et al. Neuropediatrics. 1997 Feb;28(1):21-2. doi: 10.1055/s-2007-973659. Neuropediatrics. 1997. PMID: 9151314

10

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

Teixeira C, Guimarães A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sá Miranda MC, Ribeiro MG. Teixeira C, et al. J Neurol. 2003 Jun;250(6):661-7. doi: 10.1007/s00415-003-1050-z. J Neurol. 2003. PMID: 12796825

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

150 results

Results by year