Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 561

Similar articles for PubMed (Select 19309691)

1.

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
2.

Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network.

Palmer DN, Neverman NJ, Chen JZ, Chang CT, Houweling PJ, Barry LA, Tammen I, Hughes SM, Mitchell NL.

Biochim Biophys Acta. 2015 Jun 12. pii: S0925-4439(15)00179-9. doi: 10.1016/j.bbadis.2015.06.013. [Epub ahead of print] Review.

PMID:
26073432
3.

Congenital CLN disease in two siblings.

Meyer S, Yilmaz U, Kim YJ, Steinfeld R, Meyberg-Solomayer G, Oehl-Jaschkowitz B, Tzschach A, Gortner L, Igel J, Schofer O.

Wien Med Wochenschr. 2015 May;165(9-10):210-213. Epub 2015 Jun 10.

PMID:
26059544
4.

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

Mole SE, Cotman SL.

Biochim Biophys Acta. 2015 May 27. pii: S0925-4439(15)00154-4. doi: 10.1016/j.bbadis.2015.05.011. [Epub ahead of print] Review.

PMID:
26026925
5.

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.

Kohan R, Pesaola F, Guelbert N, Pons P, Oller-Ramírez AM, Rautenberg G, Becerra A, Sims K, Xin W, Cismondi IA, de Halac IN.

Biochim Biophys Acta. 2015 May 11. pii: S0925-4439(15)00146-5. doi: 10.1016/j.bbadis.2015.05.003. [Epub ahead of print] Review.

PMID:
25976102
6.

Cell biology of the NCL proteins: What they do and don't do.

Cárcel-Trullols J, Kovács AD, Pearce DA.

Biochim Biophys Acta. 2015 May 8. pii: S0925-4439(15)00145-3. doi: 10.1016/j.bbadis.2015.04.027. [Epub ahead of print] Review.

PMID:
25962910
7.

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.

Gilliam D, Kolicheski A, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Katz ML.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):101-9. doi: 10.1016/j.ymgme.2015.04.001. Epub 2015 Apr 23.

8.

Future perspectives: Moving towards NCL treatments.

Cotman SL, Mole SE, Kohan R.

Biochim Biophys Acta. 2015 Apr 7. pii: S0925-4439(15)00107-6. doi: 10.1016/j.bbadis.2015.04.001. [Epub ahead of print] Review.

PMID:
25857620
9.

JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.

Baris S, Karakoc-Aydiner E, Ozen A, Delil K, Kiykim A, Ogulur I, Baris I, Barlan IB.

J Clin Immunol. 2015 May;35(4):339-43. doi: 10.1007/s10875-015-0156-2. Epub 2015 Apr 8.

PMID:
25851723
10.

Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep.

Perentos N, Martins AQ, Watson TC, Bartsch U, Mitchell NL, Palmer DN, Jones MW, Morton AJ.

Brain. 2015 Apr;138(Pt 4):862-74. doi: 10.1093/brain/awv026. Epub 2015 Feb 26.

11.

A Case-controlled Investigation of Pain Experience and Sensory Function in Neuronal Ceroid Lipofuscinosis.

Barney CC, Hoch J, Byiers B, Dimian A, Symons FJ.

Clin J Pain. 2015 Jan 7. [Epub ahead of print]

PMID:
25569218
12.
13.

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.

Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F.

Eur J Hum Genet. 2014 Dec 3. doi: 10.1038/ejhg.2014.264. [Epub ahead of print]

PMID:
25469541
14.

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.

Craiu D, Dragostin O, Dica A, Hoffman-Zacharska D, Gos M, Bastian AE, Gherghiceanu M, Rolfs A, Nahavandi N, Craiu M, Iliescu C.

Eur J Paediatr Neurol. 2015 Jan;19(1):78-86. doi: 10.1016/j.ejpn.2014.07.008. Epub 2014 Aug 7.

PMID:
25439737
15.

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.

Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A.

J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31.

PMID:
25359263
16.

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Patiño LC, Battu R, Ortega-Recalde O, Nallathambi J, Anandula VR, Renukaradhya U, Laissue P.

PLoS One. 2014 Oct 15;9(10):e109576. doi: 10.1371/journal.pone.0109576. eCollection 2014.

17.

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease.

Simonati A, Pezzini F, Moro F, Santorelli FM.

Curr Mol Med. 2014 Oct 10. [Epub ahead of print]

PMID:
25323868
18.

Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain.

Fabritius AL, Vesa J, Minye HM, Nakano I, Kornblum H, Peltonen L.

Exp Mol Pathol. 2014 Dec;97(3):484-91. doi: 10.1016/j.yexmp.2014.10.003. Epub 2014 Oct 7.

PMID:
25303899
19.

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.

20.

Deregulation of biometal homeostasis: the missing link for neuronal ceroid lipofuscinoses?

Grubman A, Pollari E, Duncan C, Caragounis A, Blom T, Volitakis I, Wong A, Cooper J, Crouch PJ, Koistinaho J, Jalanko A, White AR, Kanninen KM.

Metallomics. 2014 Apr;6(4):932-43.

PMID:
24804307
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk