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Results: 1 to 20 of 113

1.

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.

Cismondi IA, Cannelli N, Aiello C, Santorelli FM, Kohan R, Oller Ramírez AM, Halac IN.

Hum Genet. 2008 Jun;123(5):554. No abstract available.

PMID:
20960661
[PubMed - indexed for MEDLINE]
2.

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.

Kohan R, Cannelli N, Aiello C, Santorelli FM, Cismondi AI, Milà M, Oller Ramírez AM, Halac IN.

Hum Genet. 2008 Jun;123(5):552. No abstract available.

PMID:
20960652
[PubMed - indexed for MEDLINE]
3.

Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.

Houweling PJ, Cavanagh JA, Palmer DN, Frugier T, Mitchell NL, Windsor PA, Raadsma HW, Tammen I.

Biochim Biophys Acta. 2006 Oct;1762(10):890-7. Epub 2006 Jul 25.

PMID:
16935476
[PubMed - indexed for MEDLINE]
Free Article
4.

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L.

Nat Genet. 1998 Jul;19(3):286-8.

PMID:
9662406
[PubMed - indexed for MEDLINE]
5.

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims K.

Neurology. 2010 Feb 16;74(7):565-71. doi: 10.1212/WNL.0b013e3181cff70d.

PMID:
20157158
[PubMed - indexed for MEDLINE]
6.

A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.

Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN.

Genomics. 2005 Sep;86(3):287-94.

PMID:
16033706
[PubMed - indexed for MEDLINE]
7.

Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins.

Vesa J, Peltonen L.

Curr Mol Med. 2002 Aug;2(5):439-44. Review.

PMID:
12125809
[PubMed - indexed for MEDLINE]
8.

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE.

Hum Mutat. 2003 Jul;22(1):35-42.

PMID:
12815591
[PubMed - indexed for MEDLINE]
9.

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruíz-Linares A.

Neurology. 2005 Feb 22;64(4):740-2.

PMID:
15728307
[PubMed - indexed for MEDLINE]
10.

Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).

Rapola J, Lähdetie J, Isosomppi J, Helminen P, Penttinen M, Järvelä I.

Prenat Diagn. 1999 Jul;19(7):685-8.

PMID:
10419622
[PubMed - indexed for MEDLINE]
11.

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.

Kopra O, Vesa J, von Schantz C, Manninen T, Minye H, Fabritius AL, Rapola J, van Diggelen OP, Saarela J, Jalanko A, Peltonen L.

Hum Mol Genet. 2004 Dec 1;13(23):2893-906. Epub 2004 Sep 30.

PMID:
15459177
[PubMed - indexed for MEDLINE]
Free Article
12.

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.

Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM.

Pediatr Neurol. 2009 Apr;40(4):271-6. doi: 10.1016/j.pediatrneurol.2008.10.018.

PMID:
19302939
[PubMed - indexed for MEDLINE]
13.

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.

Cismondi IA, Kohan R, Ghio A, Ramirez AM, Halac IN.

Hum Genet. 2008 Oct;124(3):323-4. No abstract available.

PMID:
18846689
[PubMed - indexed for MEDLINE]
14.

Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile.

Kohan R, Muller VJ, Fietz MJ, Cismondi AI, Oller Ramírez AM, Halac IN.

Hum Genet. 2008 Jun;123(5):553. No abstract available.

PMID:
20960655
[PubMed - indexed for MEDLINE]
15.

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

Cannelli N, Nardocci N, Cassandrini D, Morbin M, Aiello C, Bugiani M, Criscuolo L, Zara F, Striano P, Granata T, Bertini E, Simonati A, Santorelli FM.

Neuropediatrics. 2007 Feb;38(1):46-9.

PMID:
17607606
[PubMed - indexed for MEDLINE]
16.

Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5).

Rapola J, Lake BD.

Neuropediatrics. 2000 Feb;31(1):33-4.

PMID:
10774993
[PubMed - indexed for MEDLINE]
17.

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

Bessa C, Teixeira CA, Mangas M, Dias A, Sá Miranda MC, Guimarães A, Ferreira JC, Canas N, Cabral P, Ribeiro MG.

Mol Genet Metab. 2006 Nov;89(3):245-53. Epub 2006 Jun 30.

PMID:
16814585
[PubMed - indexed for MEDLINE]
18.

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

Schmiedt ML, Bessa C, Heine C, Ribeiro MG, Jalanko A, Kyttälä A.

Hum Mutat. 2010 Mar;31(3):356-65. doi: 10.1002/humu.21195.

PMID:
20052765
[PubMed - indexed for MEDLINE]
19.

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.

Neuropediatrics. 1997 Feb;28(1):21-2.

PMID:
9151314
[PubMed - indexed for MEDLINE]
20.

Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.

de los Reyes E, Dyken PR, Phillips P, Brodsky M, Bates S, Glasier C, Mrak RE.

J Child Neurol. 2004 Jan;19(1):42-6.

PMID:
15032383
[PubMed - indexed for MEDLINE]
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