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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2006 | 1 |
2011 | 1 |
2012 | 1 |
2015 | 1 |
2019 | 1 |
2024 | 0 |
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High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
JIMD Rep. 2019 Sep 3;50(1):20-30. doi: 10.1002/jmd2.12057. eCollection 2019 Nov.
JIMD Rep. 2019.
PMID: 31741823
Free PMC article.
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A.
Di Fruscio G, et al.
Autophagy. 2015;11(6):928-38. doi: 10.1080/15548627.2015.1043077.
Autophagy. 2015.
PMID: 26075876
Free PMC article.
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Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM.
Cannelli N, et al.
Neurogenetics. 2006 May;7(2):111-7. doi: 10.1007/s10048-005-0024-y. Epub 2006 Mar 29.
Neurogenetics. 2006.
PMID: 16570191
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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.
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