275 related articles for article (PubMed ID: 22242004)
1. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
Lefeber DJ; de Brouwer AP; Morava E; Riemersma M; Schuurs-Hoeijmakers JH; Absmanner B; Verrijp K; van den Akker WM; Huijben K; Steenbergen G; van Reeuwijk J; Jozwiak A; Zucker N; Lorber A; Lammens M; Knopf C; van Bokhoven H; Grünewald S; Lehle L; Kapusta L; Mandel H; Wevers RA
PLoS Genet; 2011 Dec; 7(12):e1002427. PubMed ID: 22242004
[TBL] [Abstract][Full Text] [Related]
2. Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.
Lieu MT; Ng BG; Rush JS; Wood T; Basehore MJ; Hegde M; Chang RC; Abdenur JE; Freeze HH; Wang RY
Mol Genet Metab; 2013 Dec; 110(4):484-9. PubMed ID: 24144945
[TBL] [Abstract][Full Text] [Related]
3. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
Kapusta L; Zucker N; Frenckel G; Medalion B; Ben Gal T; Birk E; Mandel H; Nasser N; Morgenstern S; Zuckermann A; Lefeber DJ; de Brouwer A; Wevers RA; Lorber A; Morava E
Heart Fail Rev; 2013 Mar; 18(2):187-96. PubMed ID: 22327749
[TBL] [Abstract][Full Text] [Related]
4. Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
Rush ET; Baker CV; Rizzo WB
Am J Med Genet A; 2017 Sep; 173(9):2428-2434. PubMed ID: 28816422
[TBL] [Abstract][Full Text] [Related]
5. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
Kranz C; Jungeblut C; Denecke J; Erlekotte A; Sohlbach C; Debus V; Kehl HG; Harms E; Reith A; Reichel S; Grobe H; Hammersen G; Schwarzer U; Marquardt T
Am J Hum Genet; 2007 Mar; 80(3):433-40. PubMed ID: 17273964
[TBL] [Abstract][Full Text] [Related]
6. A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.
van Tol W; Ashikov A; Korsch E; Abu Bakar N; Willemsen MA; Thiel C; Lefeber DJ
JIMD Rep; 2019 Nov; 50(1):31-39. PubMed ID: 31741824
[TBL] [Abstract][Full Text] [Related]
7. Hypoglycosylation due to dolichol metabolism defects.
Denecke J; Kranz C
Biochim Biophys Acta; 2009 Sep; 1792(9):888-95. PubMed ID: 19419701
[TBL] [Abstract][Full Text] [Related]
8. Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
Helander A; Stödberg T; Jaeken J; Matthijs G; Eriksson M; Eggertsen G
Mol Genet Metab; 2013 Nov; 110(3):342-4. PubMed ID: 23890587
[TBL] [Abstract][Full Text] [Related]
9. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
van Tol W; Michelakakis H; Georgiadou E; van den Bergh P; Moraitou M; Papadimas GK; Papadopoulos C; Huijben K; Alsady M; Willemsen MA; Lefeber DJ
J Inherit Metab Dis; 2019 Sep; 42(5):984-992. PubMed ID: 30931530
[TBL] [Abstract][Full Text] [Related]
10. A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG).
Yu S; Zhang Y; Chen Z; Song J; Wang C
Endocr Metab Immune Disord Drug Targets; 2023; 23(2):235-241. PubMed ID: 35674301
[TBL] [Abstract][Full Text] [Related]
11. A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.
Levitas A; Muhammad E; Zhang Y; Perea Gil I; Serrano R; Diaz N; Arafat M; Gavidia AA; Kapiloff MS; Mercola M; Etzion Y; Parvari R; Karakikes I
PLoS Genet; 2020 Sep; 16(9):e1009000. PubMed ID: 32925938
[TBL] [Abstract][Full Text] [Related]
12. A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
Al-Hassnan ZN; Shinwari ZM; Wakil SM; Tulbah S; Mohammed S; Rahbeeni Z; Alghamdi M; Rababh M; Colak D; Kaya N; Al-Fayyadh M; Alburaiki J
BMC Med Genet; 2016 Jan; 17():3. PubMed ID: 26768247
[TBL] [Abstract][Full Text] [Related]
13. Compound Heterozygous
Gaertner A; Burr L; Klauke B; Brodehl A; Laser KT; Klingel K; Tiesmeier J; Schulz U; Knyphausen EZ; Gummert J; Milting H
Int J Mol Sci; 2022 Jun; 23(12):. PubMed ID: 35743126
[TBL] [Abstract][Full Text] [Related]
14. Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.
Komlosi K; Claris O; Collardeau-Frachon S; Kopp J; Hausser I; Mazereeuw-Hautier J; Jonca N; Zimmer AD; Sanlaville D; Fischer J
Front Genet; 2021; 12():719624. PubMed ID: 34956305
[TBL] [Abstract][Full Text] [Related]
15. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R; Aiello C; Race V; Morava E; Foulquier F; Riemersma M; Passarelli C; Concolino D; Carella M; Santorelli F; Vleugels W; Mercuri E; Garozzo D; Sturiale L; Messina S; Jaeken J; Fiumara A; Wevers RA; Bertini E; Matthijs G; Lefeber DJ
Ann Neurol; 2012 Oct; 72(4):550-8. PubMed ID: 23109149
[TBL] [Abstract][Full Text] [Related]
16. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
Theis JL; Sharpe KM; Matsumoto ME; Chai HS; Nair AA; Theis JD; de Andrade M; Wieben ED; Michels VV; Olson TM
Circ Cardiovasc Genet; 2011 Dec; 4(6):585-94. PubMed ID: 21965549
[TBL] [Abstract][Full Text] [Related]
17. Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
Svahn J; Laforêt P; Vial C; Streichenberger N; Romero N; Bouchet-Séraphin C; Bruneel A; Dupré T; Seta N; Menassa R; Michel-Calemard L; Stojkovic T
Neuromuscul Disord; 2019 Jul; 29(7):497-502. PubMed ID: 31266720
[TBL] [Abstract][Full Text] [Related]
18. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
Murakami T; Hayashi YK; Noguchi S; Ogawa M; Nonaka I; Tanabe Y; Ogino M; Takada F; Eriguchi M; Kotooka N; Campbell KP; Osawa M; Nishino I
Ann Neurol; 2006 Nov; 60(5):597-602. PubMed ID: 17036286
[TBL] [Abstract][Full Text] [Related]
19. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Lefeber DJ; Schönberger J; Morava E; Guillard M; Huyben KM; Verrijp K; Grafakou O; Evangeliou A; Preijers FW; Manta P; Yildiz J; Grünewald S; Spilioti M; van den Elzen C; Klein D; Hess D; Ashida H; Hofsteenge J; Maeda Y; van den Heuvel L; Lammens M; Lehle L; Wevers RA
Am J Hum Genet; 2009 Jul; 85(1):76-86. PubMed ID: 19576565
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Beltrán-Valero de Bernabé D; Currier S; Steinbrecher A; Celli J; van Beusekom E; van der Zwaag B; Kayserili H; Merlini L; Chitayat D; Dobyns WB; Cormand B; Lehesjoki AE; Cruces J; Voit T; Walsh CA; van Bokhoven H; Brunner HG
Am J Hum Genet; 2002 Nov; 71(5):1033-43. PubMed ID: 12369018
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
