149 related articles for article (PubMed ID: 16496270)
1. High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.
Morava E; Willemsen MA; Wopereis S; Ter Laak H; Lefeber D; Wevers RA; Cruysberg JR
Eur J Ophthalmol; 2006; 16(1):190-4. PubMed ID: 16496270
[TBL] [Abstract][Full Text] [Related]
2. Defective protein glycosylation in patients with cutis laxa syndrome.
Morava E; Wopereis S; Coucke P; Gillessen-Kaesbach G; Voit T; Smeitink J; Wevers R; Grünewald S
Eur J Hum Genet; 2005 Apr; 13(4):414-21. PubMed ID: 15657616
[TBL] [Abstract][Full Text] [Related]
3. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.
Wopereis S; Morava E; Grünewald S; Mills PB; Winchester BG; Clayton P; Coucke P; Huijben KM; Wevers RA
Biochim Biophys Acta; 2005 Jun; 1741(1-2):156-64. PubMed ID: 15955459
[TBL] [Abstract][Full Text] [Related]
4. Cutis laxa with frontoparietal cortical malformation: a novel type of congenital disorder of glycosylation.
Okanishi T; Saito Y; Yuasa I; Miura M; Nagata I; Maegaki Y; Ohno K
Eur J Paediatr Neurol; 2008 May; 12(3):262-5. PubMed ID: 18187349
[TBL] [Abstract][Full Text] [Related]
5. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
Morava E; Lefeber DJ; Urban Z; de Meirleir L; Meinecke P; Gillessen Kaesbach G; Sykut-Cegielska J; Adamowicz M; Salafsky I; Ranells J; Lemyre E; van Reeuwijk J; Brunner HG; Wevers RA
Eur J Hum Genet; 2008 Jan; 16(1):28-35. PubMed ID: 17971833
[TBL] [Abstract][Full Text] [Related]
6. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Van Maldergem L; Yuksel-Apak M; Kayserili H; Seemanova E; Giurgea S; Basel-Vanagaite L; Leao-Teles E; Vigneron J; Foulon M; Greally M; Jaeken J; Mundlos S; Dobyns WB
Neurology; 2008 Nov; 71(20):1602-8. PubMed ID: 18716235
[TBL] [Abstract][Full Text] [Related]
7. Glycobiology of α-dystroglycan and muscular dystrophy.
Endo T
J Biochem; 2015 Jan; 157(1):1-12. PubMed ID: 25381372
[TBL] [Abstract][Full Text] [Related]
8. [Congenital myopathy associated with cutis laxa].
Martín R; Febrer I; Lainez JM; Romero A; Sancho J; Cerdá JM
Arch Neurobiol (Madr); 1989; 52(6):273-6. PubMed ID: 2635848
[TBL] [Abstract][Full Text] [Related]
9. [Congenital generalized cutis laxa: 5 cases].
Rybojad M; Baumann C; Godeau G; Moraillon I; Prigent F; Morel P; Bourrat E
Ann Dermatol Venereol; 1999 Apr; 126(4):317-9. PubMed ID: 10421933
[TBL] [Abstract][Full Text] [Related]
10. Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.
Wada Y; Kadoya M; Okamoto N
Glycobiology; 2012 Aug; 22(8):1140-4. PubMed ID: 22611120
[TBL] [Abstract][Full Text] [Related]
11. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Vogt G; El Choubassi N; Herczegfalvi Á; Kölbel H; Lekaj A; Schara U; Holtgrewe M; Krause S; Horvath R; Schuelke M; Hübner C; Mundlos S; Roos A; Lochmüller H; Karcagi V; Kornak U; Fischer-Zirnsak B
J Inherit Metab Dis; 2021 Jul; 44(4):972-986. PubMed ID: 33320377
[TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive cutis laxa syndrome revisited.
Morava E; Guillard M; Lefeber DJ; Wevers RA
Eur J Hum Genet; 2009 Sep; 17(9):1099-110. PubMed ID: 19401719
[TBL] [Abstract][Full Text] [Related]
13. [Finding of O-mannosyl glycan in mammals and congenital muscular dystrophies due to glycosylation defects].
Endo T
Yakugaku Zasshi; 2003 Oct; 123(10):825-35. PubMed ID: 14577328
[TBL] [Abstract][Full Text] [Related]
14. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Longman C; Brockington M; Torelli S; Jimenez-Mallebrera C; Kennedy C; Khalil N; Feng L; Saran RK; Voit T; Merlini L; Sewry CA; Brown SC; Muntoni F
Hum Mol Genet; 2003 Nov; 12(21):2853-61. PubMed ID: 12966029
[TBL] [Abstract][Full Text] [Related]
15. Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.
Wopereis S; Grünewald S; Morava E; Penzien JM; Briones P; García-Silva MT; Demacker PN; Huijben KM; Wevers RA
Clin Chem; 2003 Nov; 49(11):1839-45. PubMed ID: 14578315
[TBL] [Abstract][Full Text] [Related]
16. Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan.
Manya H; Endo T
Biochim Biophys Acta Gen Subj; 2017 Oct; 1861(10):2462-2472. PubMed ID: 28711406
[TBL] [Abstract][Full Text] [Related]
17. Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Balasubramaniam S; Riley LG; Bratkovic D; Ketteridge D; Manton N; Cowley MJ; Gayevskiy V; Roscioli T; Mohamed M; Gardeitchik T; Morava E; Christodoulou J
J Inherit Metab Dis; 2017 Sep; 40(5):745-747. PubMed ID: 28409271
[TBL] [Abstract][Full Text] [Related]
18. Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.
Wopereis S; Lefeber DJ; Morava E; Wevers RA
Clin Chem; 2006 Apr; 52(4):574-600. PubMed ID: 16497938
[TBL] [Abstract][Full Text] [Related]
19. Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan.
Kuwabara N; Manya H; Yamada T; Tateno H; Kanagawa M; Kobayashi K; Akasaka-Manya K; Hirose Y; Mizuno M; Ikeguchi M; Toda T; Hirabayashi J; Senda T; Endo T; Kato R
Proc Natl Acad Sci U S A; 2016 Aug; 113(33):9280-5. PubMed ID: 27493216
[TBL] [Abstract][Full Text] [Related]
20. Mammalian O-mannosyl glycans: Biochemistry and glycopathology.
Endo T
Proc Jpn Acad Ser B Phys Biol Sci; 2019; 95(1):39-51. PubMed ID: 30643095
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]