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Items: 20

1.

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.

2.

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.

3.

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.

4.

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C.

PLoS One. 2011;6(11):e26741. doi: 10.1371/journal.pone.0026741. Epub 2011 Nov 4.

5.

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Sanders DN, Lohi H, Seppälä EH, Wade CM, Lindblad-Toh K, O'Brien DP, Katz ML.

Neurobiol Dis. 2011 Jun;42(3):468-74. doi: 10.1016/j.nbd.2011.02.009. Epub 2011 Feb 26.

PMID:
21362476
6.

Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.

Nijssen PC, Ceuterick C, van Diggelen OP, Elleder M, Martin JJ, Teepen JL, Tyynelä J, Roos RA.

Brain Pathol. 2003 Oct;13(4):574-81.

PMID:
14655761
7.

Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis.

Nijssen PC, Brekelmans GJ, Roos RA.

Clin Neurophysiol. 2009 Oct;120(10):1782-6. doi: 10.1016/j.clinph.2009.07.042. Epub 2009 Aug 21.

PMID:
19699676
8.

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.

van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JL, van Bunderen PA, Taschner PE, Losekoot M, Voznyi YV.

Ann Neurol. 2001 Aug;50(2):269-72.

PMID:
11506414
9.

Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.

Nijssen PC, Brusse E, Leyten AC, Martin JJ, Teepen JL, Roos RA.

Mov Disord. 2002 May;17(3):482-7.

PMID:
12112194
10.

Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama.

Burneo JG, Arnold T, Palmer CA, Kuzniecky RI, Oh SJ, Faught E.

Epilepsia. 2003 Jun;44(6):841-6. No abstract available.

11.

Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form.

Kay C.

Clin Genet. 2011 Dec;80(6):505-6. doi: 10.1111/j.1399-0004.2011.01761.x. Epub 2011 Aug 30. No abstract available.

PMID:
21819394
12.

Adult type of neuronal ceroid lipofuscinosis.

Martin JJ.

Dev Neurosci. 1991;13(4-5):331-8. Review.

PMID:
1817040
13.

[Adult-onset neuronal ceroid lipofuscinosis].

Gdynia HJ, Sperfeld AD, Ludolph AC.

Nervenarzt. 2007 Feb;78(2):139-40, 142-4. Review. German.

PMID:
17180669
14.

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

Ramadan H, Al-Din AS, Ismail A, Balen F, Varma A, Twomey A, Watts R, Jackson M, Anderson G, Green E, Mole SE.

Neurology. 2007 Jan 30;68(5):387-8. No abstract available.

PMID:
17261688
15.

Adult neuronal ceroid-lipofuscinosis.

Goebel HH, Braak H.

Clin Neuropathol. 1989 May-Jun;8(3):109-19. Review.

PMID:
2663281
16.

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
17.

Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report.

Augustine A, Fricchione G, Woznicki R, Broberg D, Holt J.

Int J Psychiatry Med. 1993;23(4):315-22.

PMID:
8175244
18.

Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report.

Hammersen S, Brock M, Cervós-Navarro J.

J Neurosurg. 1998 Feb;88(2):314-8.

PMID:
9452242
19.

Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).

Van Diggelen OP, Keulemans JL, Kleijer WJ, Thobois S, Tilikete C, Voznyi YV.

Eur J Paediatr Neurol. 2001;5 Suppl A:189-92.

PMID:
11588995
20.

[A case of adult neuronal ceroid lipofuscinosis type A].

Fujita N, Kimura T, Matsubara N, Tabe H, Tanaka K.

Rinsho Shinkeigaku. 1999 Apr;39(4):478-80. Japanese.

PMID:
10391979
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