Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 103

Similar articles for PubMed (Select 23685283)

1.

A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.

AlBakheet A, Qari A, Colak D, Rasheed A, Kaya N, Al-Sayed M.

Gene. 2013 Sep 10;526(2):464-6. doi: 10.1016/j.gene.2013.04.076. Epub 2013 May 15.

PMID:
23685283
2.

Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.

Tüysüz B, Goldin E, Metin B, Korkmaz B, Yalçinkaya C.

Brain Dev. 2009 Oct;31(9):702-5. doi: 10.1016/j.braindev.2008.10.001. Epub 2008 Nov 8.

PMID:
19006653
3.

Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.

Geer JS, Skinner SA, Goldin E, Holden KR.

Pediatr Neurol. 2010 Mar;42(3):223-6. doi: 10.1016/j.pediatrneurol.2009.10.002.

4.

Mucolipidosis type IV.

Bach G.

Mol Genet Metab. 2001 Jul;73(3):197-203. Review.

PMID:
11461186
5.

The molecular basis of mucolipidosis type IV.

Slaugenhaupt SA.

Curr Mol Med. 2002 Aug;2(5):445-50. Review.

PMID:
12125810
6.

Mucolipidosis type IV: an update.

Wakabayashi K, Gustafson AM, Sidransky E, Goldin E.

Mol Genet Metab. 2011 Nov;104(3):206-13. doi: 10.1016/j.ymgme.2011.06.006. Epub 2011 Jun 16. Review.

7.

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach G.

Hum Mutat. 2001 May;17(5):397-402.

PMID:
11317355
8.

Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.

Liu S, Zhang W, Shi H, Meng Y, Qiu Z.

Gene. 2014 Feb 10;535(2):294-8. doi: 10.1016/j.gene.2013.11.010. Epub 2013 Dec 6.

PMID:
24316125
9.

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.

Benini A, Bozzato A, Mantovanelli S, Calvarini L, Giacopuzzi E, Bresciani R, Moleri S, Zizioli D, Beltrame M, Borsani G.

Int J Dev Biol. 2013;57(1):85-93. doi: 10.1387/ijdb.120033gb.

10.

Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin.

Bargal R, Goebel HH, Latta E, Bach G.

Neuropediatrics. 2002 Aug;33(4):199-202.

PMID:
12368990
11.

The neurogenetics of mucolipidosis type IV.

Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R.

Neurology. 2002 Aug 13;59(3):306-13.

PMID:
12182165
12.

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA.

Hum Mol Genet. 2000 Oct 12;9(17):2471-8.

13.

Identification of the gene causing mucolipidosis type IV.

Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G.

Nat Genet. 2000 Sep;26(1):118-23.

PMID:
10973263
14.

Mucolipidosis type IV: characteristic MRI findings.

Frei KP, Patronas NJ, Crutchfield KE, Altarescu G, Schiffmann R.

Neurology. 1998 Aug;51(2):565-9.

PMID:
9710036
15.

A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.

Acierno JS Jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA.

Genomics. 2001 Apr 15;73(2):203-10.

PMID:
11318610
16.
17.

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

Edelmann L, Dong J, Desnick RJ, Kornreich R.

Am J Hum Genet. 2002 Apr;70(4):1023-7. Epub 2002 Feb 13.

18.

Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.

Wang ZH, Zeng B, Pastores GM, Raksadawan N, Ong E, Kolodny EH.

Genet Test. 2001 Summer;5(2):87-92. Erratum in: Genet Test 2001 Fall;5(3):273.

PMID:
11551108
19.

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.

Cury GK, Matte U, Artigalás O, Alegra T, Velho RV, Sperb F, Burin MG, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Schwartz IV.

Gene. 2013 Jul 15;524(1):59-64. doi: 10.1016/j.gene.2013.03.105. Epub 2013 Apr 6.

20.

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

Dobrovolny R, Liskova P, Ledvinova J, Poupetova H, Asfaw B, Filipec M, Jirsova K, Kraus J, Elleder M.

Am J Ophthalmol. 2007 Apr;143(4):663-71. Epub 2006 Dec 28.

PMID:
17239335
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk