Miski Mohamed
Overview
Explore the profile of Miski Mohamed including associated specialties, affiliations and a list of published articles.
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17
Citations
311
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0
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Recent Articles
1.
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, et al.
Am J Hum Genet
. 2020 Aug;
107(2):374.
PMID: 32763190
No abstract available.
2.
Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, et al.
J Inherit Metab Dis
. 2020 May;
43(6):1382-1391.
PMID: 32418222
Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalised connective tissue ageing, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes...
3.
Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, et al.
Am J Hum Genet
. 2018 Mar;
102(4):685-695.
PMID: 29576219
Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded polypeptides by mitochondria-specific ribosomes in...
4.
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, et al.
Am J Hum Genet
. 2017 Jan;
100(2):216-227.
PMID: 28065471
Defects of the V-type proton (H) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild...
5.
Yan-Wai Wong S, Beamer L, Gadomski T, Honzik T, Mohamed M, Wortmann S, et al.
J Pediatr
. 2016 May;
175:130-136.e8.
PMID: 27206562
Objective: To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). Study Design: We evaluated 27 patients with PGM1-CDG who were divided into 3...
6.
Wolthuis D, van Asbeck E, Mohamed M, Gardeitchik T, Lim-Melia E, Wevers R, et al.
Eur J Paediatr Neurol
. 2014 Apr;
18(4):511-5.
PMID: 24767728
Autosomal recessive cutis laxa (ARCL) is a connective tissue disorder characterized by wrinkled, inelastic skin, frequently associated with a neurologic involvement and multisystem disease. Next generation sequencing was performed in...
7.
Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber D, Morava E
Pediatr Dermatol
. 2014 Feb;
31(1):e1-5.
PMID: 24555185
Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. Proper glycosylation is essential for normal protein structure, function, and trafficking. Mutations in the glycosylation pathway lead to...
8.
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
van Asbeck E, Wolthuis D, Mohamed M, Wevers R, Korenke C, Gardeitchik T, et al.
Am J Med Genet A
. 2014 Jan;
164A(4):1049-55.
PMID: 24459010
Cutis laxa (CL) is a connective tissue disorder, characterized by loose, inelastic, sagging skin. Both acquired and inherited (dominant, recessive, and X-linked) forms exist. Here, we describe a new phenotype,...
9.
Mohamed M, Voet M, Gardeitchik T, Morava E
Adv Exp Med Biol
. 2014 Jan;
802:161-84.
PMID: 24443027
Cutis laxa is an inherited or acquired disease characterized by redundant, sagging and inelastic skin. In inherited cutis laxa an abnormal synthesis of extracellular matrix proteins occurs due to genetic...
10.
Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, et al.
Eur J Hum Genet
. 2013 Aug;
22(7):888-95.
PMID: 23963297
Patients with cutis laxa (CL) have wrinkled, sagging skin with decreased elasticity. Skin symptoms are associated with variable systemic involvement. The most common, genetically highly heterogeneous form of autosomal recessive...