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Similar articles for PubMed (Select 23489355)

1.

Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies.

Getty AL, Rothberg PG, Pearce DA.

Expert Opin Med Diagn. 2007 Nov;1(3):351-62. doi: 10.1517/17530059.1.3.351.

PMID:
23489355
2.

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.

3.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2001 Oct 10 [updated 2013 Aug 01].

4.

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M, Lehesjoki AE, Mole SE.

Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Review.

PMID:
21990111
5.

Neuronal ceroid lipofuscinoses: classification and diagnosis.

Wisniewski KE, Kida E, Golabek AA, Kaczmarski W, Connell F, Zhong N.

Adv Genet. 2001;45:1-34. Review.

PMID:
11332767
6.

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.

Lyly A, von Schantz C, Heine C, Schmiedt ML, Sipilä T, Jalanko A, Kyttälä A.

BMC Cell Biol. 2009 Nov 26;10:83. doi: 10.1186/1471-2121-10-83.

7.

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

Teixeira C, Guimarães A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sá Miranda MC, Ribeiro MG.

J Neurol. 2003 Jun;250(6):661-7.

PMID:
12796825
8.

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
9.

Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics.

Shacka JJ.

Brain Res Bull. 2012 May 1;88(1):43-57. doi: 10.1016/j.brainresbull.2012.03.003. Epub 2012 Mar 28. Review.

PMID:
22502604
10.

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
11.

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT.

Hum Mutat. 2009 Jul;30(7):1104-16. doi: 10.1002/humu.21012.

PMID:
19431184
12.

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.

Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI.

Curr Pharm Biotechnol. 2011 Jun;12(6):867-83. doi: 1389-2010/11 $58.00+.00. Review.

13.

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE.

Hum Mutat. 2003 Jul;22(1):35-42.

PMID:
12815591
14.

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Mole SE, Williams RE, Goebel HH.

Neurogenetics. 2005 Sep;6(3):107-26. Epub 2005 Sep 28. Review.

PMID:
15965709
15.

Molecular genetics of the neuronal ceroid lipofuscinoses.

Mole S, Gardiner M.

Epilepsia. 1999;40 Suppl 3:29-32. Review.

PMID:
10446748
16.

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.

Kohan R, Cismondi IA, Kremer RD, Muller VJ, Guelbert N, Anzolini VT, Fietz MJ, Ramírez AM, Halac IN.

Clin Genet. 2009 Oct;76(4):372-82. doi: 10.1111/j.1399-0004.2009.01214.x.

PMID:
19793312
17.

Neuronal ceroid lipofuscinoses: research update.

Wisniewski KE, Kida E, Connell F, Zhong N.

Neurol Sci. 2000;21(3 Suppl):S49-56. Review.

PMID:
11073228
18.

The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.

Weimer JM, Kriscenski-Perry E, Elshatory Y, Pearce DA.

Neuromolecular Med. 2002;1(2):111-24. Review.

PMID:
12025857
19.

[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].

Pérez-Poyato M S, Milà-Recasens M, Ferrer-Abizanda I, Cusí-Sánchez V, Vázquez-López M, Camino-León R, Coll-Rosell MJ, Gort L, Pineda-Marfà M.

Rev Neurol. 2012 May 1;54(9):544-50. Spanish.

20.

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE.

Eur J Paediatr Neurol. 2001;5 Suppl A:21-7.

PMID:
11589000
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