176 related articles for article (PubMed ID: 12368990)
1. 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. PubMed ID: 12368990
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19006653
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 17239335
[TBL] [Abstract][Full Text] [Related]
4. Mucolipidosis type IV.
Bach G
Mol Genet Metab; 2001 Jul; 73(3):197-203. PubMed ID: 11461186
[TBL] [Abstract][Full Text] [Related]
5. Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.
Raychowdhury MK; González-Perrett S; Montalbetti N; Timpanaro GA; Chasan B; Goldmann WH; Stahl S; Cooney A; Goldin E; Cantiello HF
Hum Mol Genet; 2004 Mar; 13(6):617-27. PubMed ID: 14749347
[TBL] [Abstract][Full Text] [Related]
6. A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.
Acierno JS; 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; 73(2):203-10. PubMed ID: 11318610
[TBL] [Abstract][Full Text] [Related]
7. The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.
Bach G; Webb MB; Bargal R; Zeigler M; Ekstein J
Hum Mutat; 2005 Dec; 26(6):591. PubMed ID: 16287144
[TBL] [Abstract][Full Text] [Related]
8. The molecular basis of mucolipidosis type IV.
Slaugenhaupt SA
Curr Mol Med; 2002 Aug; 2(5):445-50. PubMed ID: 12125810
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 10973263
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 11317355
[TBL] [Abstract][Full Text] [Related]
11. Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.
Goldin E; Stahl S; Cooney AM; Kaneski CR; Gupta S; Brady RO; Ellis JR; Schiffmann R
Hum Mutat; 2004 Dec; 24(6):460-5. PubMed ID: 15523648
[TBL] [Abstract][Full Text] [Related]
12. Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue.
Schaheen L; Dang H; Fares H
Dev Biol; 2006 May; 293(2):382-91. PubMed ID: 16530747
[TBL] [Abstract][Full Text] [Related]
13. Lysosomal exocytosis is impaired in mucolipidosis type IV.
LaPlante JM; Sun M; Falardeau J; Dai D; Brown EM; Slaugenhaupt SA; Vassilev PM
Mol Genet Metab; 2006 Dec; 89(4):339-48. PubMed ID: 16914343
[TBL] [Abstract][Full Text] [Related]
14. Mucolipidosis type IV and the mucolipins.
Bach G; Zeevi DA; Frumkin A; Kogot-Levin A
Biochem Soc Trans; 2010 Dec; 38(6):1432-5. PubMed ID: 21118102
[TBL] [Abstract][Full Text] [Related]
15. 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; 526(2):464-6. PubMed ID: 23685283
[TBL] [Abstract][Full Text] [Related]
16. When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
Bargal R; Zeigler M; Abu-Libdeh B; Zuri V; Mandel H; Ben Neriah Z; Stewart F; Elcioglu N; Hindi T; Le Merrer M; Bach G; Raas-Rothschild A
Mol Genet Metab; 2006 Aug; 88(4):359-63. PubMed ID: 16630736
[TBL] [Abstract][Full Text] [Related]
17. 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; Bove C; Kaneski CR; Nagle J; Bromley MC; Colman M; Schiffmann R; Slaugenhaupt SA
Hum Mol Genet; 2000 Oct; 9(17):2471-8. PubMed ID: 11030752
[TBL] [Abstract][Full Text] [Related]
18. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
19. 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; 5(2):87-92. PubMed ID: 11551108
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 11845410
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
