Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 51

1.

NCL diseases - clinical perspectives.

Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R.

Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.

PMID:
23602993
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
23297359
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

Williams RE, Mole SE.

Neurology. 2012 Jul 10;79(2):183-91. doi: 10.1212/WNL.0b013e31825f0547.

PMID:
22778232
[PubMed - indexed for MEDLINE]
4.

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL.

Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28.

PMID:
22748208
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF.

Am J Hum Genet. 2012 Jun 8;90(6):1102-7. doi: 10.1016/j.ajhg.2012.04.021. Epub 2012 May 17.

PMID:
22608501
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ.

Hum Mol Genet. 2012 Jun 15;21(12):2646-50. doi: 10.1093/hmg/dds089. Epub 2012 Mar 2.

PMID:
22388936
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
21820099
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
21549341
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease).

Ostergaard JR, Rasmussen TB, Mølgaard H.

Neurology. 2011 Apr 5;76(14):1245-51. doi: 10.1212/WNL.0b013e31821435bd.

PMID:
21464428
[PubMed - indexed for MEDLINE]
10.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2001 Oct 10 [updated 2013 Aug 01].

PMID:
20301601
[PubMed]
Books & Documents
11.

The epidemiology of progressive intellectual and neurological deterioration in childhood.

Verity C, Winstone AM, Stellitano L, Will R, Nicoll A.

Arch Dis Child. 2010 May;95(5):361-4. doi: 10.1136/adc.2009.173419. Epub 2009 Nov 29.

PMID:
19948513
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
Free Article
13.

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

Kitzmüller C, Haines RL, Codlin S, Cutler DF, Mole SE.

Hum Mol Genet. 2008 Jan 15;17(2):303-12. Epub 2007 Oct 18.

PMID:
17947292
[PubMed - indexed for MEDLINE]
Free Article
14.

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.

PMID:
17564970
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.

Gene symbol: CLN3. Disease: Juvenile neuronal ceroid lipofuscinosis (Batten disease).

Leman AR, Pearce DA, Rothberg PG.

Hum Genet. 2005 May;116(6):544. No abstract available.

PMID:
15991331
[PubMed - indexed for MEDLINE]
17.

Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis.

Bäckman ML, Santavuori PR, Aberg LE, Aronen ET.

J Intellect Disabil Res. 2005 Jan;49(Pt 1):25-32.

PMID:
15634309
[PubMed - indexed for MEDLINE]
18.

Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis.

Crystal RG, Sondhi D, Hackett NR, Kaminsky SM, Worgall S, Stieg P, Souweidane M, Hosain S, Heier L, Ballon D, Dinner M, Wisniewski K, Kaplitt M, Greenwald BM, Howell JD, Strybing K, Dyke J, Voss H.

Hum Gene Ther. 2004 Nov;15(11):1131-54.

PMID:
15610613
[PubMed - indexed for MEDLINE]
19.

Progressive myoclonic epilepsy.

Zupanc ML, Legros B.

Cerebellum. 2004;3(3):156-71. Review.

PMID:
15543806
[PubMed - indexed for MEDLINE]
20.

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C, Artacho I, Kohlschütter A, Lin S, Boustany RM.

Ann Neurol. 2004 Sep;56(3):342-50.

PMID:
15349861
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk