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Items: 1 to 20 of 122

1.

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.

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.

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
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.

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.

6.

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
7.

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.

Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, Chandra SS.

Acta Neuropathol. 2016 Apr;131(4):621-37. doi: 10.1007/s00401-015-1512-2. Epub 2015 Dec 10.

PMID:
26659577
8.

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH.

Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14.

9.

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

Sahin Y, Güngör O, Gormez Z, Demirci H, Ergüner B, Güngör G, Dilber C.

Acta Neurol Belg. 2017 Mar;117(1):159-167. doi: 10.1007/s13760-016-0721-3. Epub 2016 Nov 14.

PMID:
27844444
10.

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom TM, Zimprich A.

Neurogenetics. 2009 Feb;10(1):73-7. doi: 10.1007/s10048-008-0153-1. Epub 2008 Oct 11.

PMID:
18850119
11.

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.

12.

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.

Oliver VF, van Bysterveldt KA, Cadzow M, Steger B, Romano V, Markie D, Hewitt AW, Mackey DA, Willoughby CE, Sherwin T, Crosier PS, McGhee CN, Vincent AL.

Ophthalmology. 2016 Apr;123(4):709-22. doi: 10.1016/j.ophtha.2015.12.008. Epub 2016 Jan 16.

13.

A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.

Guo J, Johnson GS, Brown HA, Provencher ML, da Costa RC, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, O'Brien DP, Katz ML.

Mol Genet Metab. 2014 Aug;112(4):302-9. doi: 10.1016/j.ymgme.2014.05.014. Epub 2014 Jun 4.

14.
15.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.

Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31.

PMID:
24697911
16.

Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.

Benitez BA, Cairns NJ, Schmidt RE, Morris JC, Norton JB, Cruchaga C, Sands MS.

Acta Neuropathol Commun. 2015 Nov 26;3:73. doi: 10.1186/s40478-015-0256-5.

17.

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE.

Hum Mutat. 2004 Apr;23(4):300-5.

PMID:
15024724
18.

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.

19.

Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.

Greaves J, Lemonidis K, Gorleku OA, Cruchaga C, Grefen C, Chamberlain LH.

J Biol Chem. 2012 Oct 26;287(44):37330-9. doi: 10.1074/jbc.M112.389098. Epub 2012 Aug 19.

20.

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

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