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Items: 1 to 20 of 145

1.

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.

Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M.

Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7.

2.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.

3.

Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease.

Peters J, Rittger A, Weisner R, Knabbe J, Zunke F, Rothaug M, Damme M, Berkovic SF, Blanz J, Saftig P, Schwake M.

Biochem Biophys Res Commun. 2015 Feb 13;457(3):334-40. doi: 10.1016/j.bbrc.2014.12.111. Epub 2015 Jan 7.

PMID:
25576872
4.

Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.

Di Fabio R, Moro F, Pestillo L, Meschini MC, Pezzini F, Doccini S, Casali C, Pierelli F, Simonati A, Santorelli FM.

Neurology. 2014 Nov 4;83(19):1769-70. doi: 10.1212/WNL.0000000000000953. Epub 2014 Oct 1. No abstract available.

PMID:
25274848
5.

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.

van der Zee J, Mariën P, Crols R, Van Mossevelde S, Dillen L, Perrone F, Engelborghs S, Verhoeven J, D'aes T, Ceuterick-De Groote C, Sieben A, Versijpt J, Cras P, Martin JJ, Van Broeckhoven C.

Neurol Genet. 2016 Sep 16;2(5):e102. doi: 10.1212/NXG.0000000000000102. eCollection 2016 Oct.

6.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S.

Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Epub 2011 Aug 4. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

7.

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabé A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P.

Clin Genet. 2013 Jun;83(6):571-5. doi: 10.1111/cge.12020. Epub 2012 Nov 7.

PMID:
22978711
8.

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Mandel H, Cohen Katsanelson K, Khayat M, Chervinsky I, Vladovski E, Iancu TC, Indelman M, Horovitz Y, Sprecher E, Shalev SA, Spiegel R.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):607-12. doi: 10.1016/j.ejmg.2014.09.004. Epub 2014 Sep 28.

PMID:
25270050
9.

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.

Bras J, Djaldetti R, Alves AM, Mead S, Darwent L, Lleo A, Molinuevo JL, Blesa R, Singleton A, Hardy J, Clarimon J, Guerreiro R.

Neurobiol Aging. 2016 Oct;46:236.e1-6. doi: 10.1016/j.neurobiolaging.2016.06.018. Epub 2016 Jul 4.

10.

Kufs' disease: a critical reappraisal.

Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS.

Brain. 1988 Feb;111 ( Pt 1):27-62. Review.

PMID:
3284607
11.

[Adult neuronal ceroid lipofuscinosis (Kufs disease)--a rare cause of dementia].

Kozian R, Kiszka T, Peter K.

Psychiatr Prax. 1994 Nov;21(6):235-7. German.

PMID:
7824670
12.

Autosomal dominant Kufs' disease: a cause of early onset dementia.

Josephson SA, Schmidt RE, Millsap P, McManus DQ, Morris JC.

J Neurol Sci. 2001 Jul 15;188(1-2):51-60.

PMID:
11489285
13.

A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.

Morgan JP, Magee H, Wong A, Nelson T, Koch B, Cooper JD, Weimer JM.

PLoS One. 2013 Nov 1;8(11):e78694. doi: 10.1371/journal.pone.0078694. eCollection 2013.

14.

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S.

PLoS One. 2012;7(1):e29729. doi: 10.1371/journal.pone.0029729. Epub 2012 Jan 3. Erratum in: PLoS One. 2012;7(9). doi:10.1371/annotation/26d7eb64-ccd2-41db-b1aa-7cdc8c1eff95.

15.

Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family.

Callagy C, O'Neill G, Murphy SF, Farrell MA.

Clin Neuropathol. 2000 May-Jun;19(3):109-18.

PMID:
14606583
16.

53-year-old man with rapid cognitive decline.

Robertson T, Tannenberg AE, Hiu J, Reimers J.

Brain Pathol. 2008 Apr;18(2):292-4. doi: 10.1111/j.1750-3639.2008.00160.x.

PMID:
18363941
17.

Kufs disease: clinical features and forms.

Berkovic SF, Andermann F, Andermann E, Carpenter S, Wolfe L.

Am J Med Genet Suppl. 1988;5:105-9. Review.

PMID:
3146309
18.

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

Bouhouche A, Regragui W, El Fahime E, Bouslam N, Tazi-Ahnini R, Melloul M, Benomar A, Yahyaoui M.

Indian J Pediatr. 2013 Aug;80(8):694-6. doi: 10.1007/s12098-012-0889-3. Epub 2012 Nov 22.

PMID:
23180398
19.

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE.

Am J Hum Genet. 2007 Jul;81(1):136-46. Epub 2007 May 14.

20.

Early-onset dementia with prolonged occipital seizures: an atypical case of Kufs disease.

Zini A, Cenacchi G, Nichelli P, Zunarelli E, Todeschini A, Meletti S.

Neurology. 2008 Nov 18;71(21):1709-12. doi: 10.1212/01.wnl.0000335164.02634.f6.

PMID:
19015486

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