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Items: 1 to 20 of 206

1.

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
2.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A.

Hum Mutat. 2009 May;30(5):E651-61. doi: 10.1002/humu.21010.

PMID:
19309691
3.

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
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
5.

Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.

Al-Kowari MK, Hassan S, El-Said MF, Ben-Omran T, Hedin L, Mole SE, Badii R.

J Child Neurol. 2011 May;26(5):625-9. doi: 10.1177/0883073810387298. Epub 2011 Mar 29.

PMID:
21447811
6.

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R.

Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5.

PMID:
19807737
7.

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
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
9.

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
10.

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE.

Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5.

PMID:
19201763
11.

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.

Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z, Baskin B, Frecker M, Carr SM, Ives E, Parfrey PS.

Clin Genet. 2008 Sep;74(3):213-22. doi: 10.1111/j.1399-0004.2008.01054.x. Epub 2008 Aug 4.

PMID:
18684116
12.

A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?

Zelnik N, Mahajna M, Iancu TC, Sharony R, Zeigler M.

Pediatr Neurol. 2007 Jun;36(6):411-3.

PMID:
17560505
13.

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
14.
15.

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
16.

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
17.
18.

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
19.

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.

Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.

Pediatr Neurol. 2009 Oct;41(4):297-300. doi: 10.1016/j.pediatrneurol.2009.04.022.

PMID:
19748052
20.

Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD).

Hofman IL, Taschner PE.

Am J Med Genet. 1995 Jun 5;57(2):165-7.

PMID:
7668323

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