PubMed (OMIM) for id: 79158

Year	Number of Results
1965	1
1966	1
1967	1
1968	1
1970	1
1971	3
1972	2
1973	1
1974	1
1975	2
1976	3
1977	6
1978	1
1979	1
1980	2
1981	2
1982	6
1983	4
1985	2
1986	3
1987	2
1988	1
1991	1
1992	1
1993	2
1994	1
1995	1
1996	4
1998	1
2000	1
2002	2
2003	2
2005	7
2006	2
2008	2
2009	3
2010	4
2011	3
2014	1
2016	1
2024	0

1

A Mutation Associated with Stuttering Alters Mouse Pup Ultrasonic Vocalizations.

Barnes TD, Wozniak DF, Gutierrez J, Han TU, Drayna D, Holy TE. Barnes TD, et al. Curr Biol. 2016 Apr 13:S0960-9822(16)30179-8 10.1016/j.cub.2016.02.068. doi: 10.1016/j.cub.2016.02.068. Online ahead of print. Curr Biol. 2016. PMID: 27151663 Free PMC article.

2

A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.

Paton L, Bitoun E, Kenyon J, Priestman DA, Oliver PL, Edwards B, Platt FM, Davies KE. Paton L, et al. J Biol Chem. 2014 Sep 26;289(39):26709-26721. doi: 10.1074/jbc.M114.586156. Epub 2014 Aug 8. J Biol Chem. 2014. PMID: 25107912 Free PMC article.

3

A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.

Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S. Marschner K, et al. Science. 2011 Jul 1;333(6038):87-90. doi: 10.1126/science.1205677. Science. 2011. PMID: 21719679

4

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation.

Fedyna A, Drayna D, Kang C. Fedyna A, et al. J Hum Genet. 2011 Jan;56(1):80-2. doi: 10.1038/jhg.2010.125. Epub 2010 Oct 14. J Hum Genet. 2011. PMID: 20944643 Free PMC article.

5

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S. Coutinho MF, et al. Clin Genet. 2011 Sep;80(3):273-80. doi: 10.1111/j.1399-0004.2010.01539.x. Epub 2010 Sep 29. Clin Genet. 2011. PMID: 20880125

6

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D. Kang C, et al. N Engl J Med. 2010 Feb 25;362(8):677-85. doi: 10.1056/NEJMoa0902630. Epub 2010 Feb 10. N Engl J Med. 2010. PMID: 20147709 Free PMC article.

7

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S. Encarnação M, et al. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x. Clin Genet. 2009. PMID: 19659762

8

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. Cathey SS, et al. J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736. Epub 2009 Jul 16. J Med Genet. 2010. PMID: 19617216 Free PMC article.

9

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Otomo T, et al. J Hum Genet. 2009 Mar;54(3):145-51. doi: 10.1038/jhg.2009.3. Epub 2009 Feb 6. J Hum Genet. 2009. PMID: 19197337

10

Molecular order in mucolipidosis II and III nomenclature.

Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA. Cathey SS, et al. Am J Med Genet A. 2008 Feb 15;146A(4):512-3. doi: 10.1002/ajmg.a.32193. Am J Med Genet A. 2008. PMID: 18203164 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

83 results

Results by year