Marcus Naymik
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Explore the profile of Marcus Naymik including associated specialties, affiliations and a list of published articles.
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Articles
25
Citations
500
Followers
0
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Recent Articles
1.
Nassan M, Ayala I, Sloan J, Bonfitto A, Stark B, Song S, et al.
medRxiv
. 2025 Feb;
PMID: 39973992
Frontotemporal lobar degeneration-TDP Type C (TDP-C) is a unique neurodegenerative disease that starts by attacking the anterior temporal lobe leading to language and/or behavioral syndromes. Current literature on the genetic...
2.
Jepsen W, Fazenbaker A, Ramsey K, Bonfitto A, Naymik M, Turner B, et al.
Int J Mol Sci
. 2024 Nov;
25(22).
PMID: 39595988
Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by the absence of a fully functional dystrophin protein in myocytes. In skeletal muscle, the lack of dystrophin ultimately results...
3.
Khajouei E, Ghisays V, Piras I, Martinez K, Naymik M, Ngo P, et al.
medRxiv
. 2024 Sep;
PMID: 39281754
Background: Genetic variation in is associated with altered lipid metabolism, as well as cardiovascular and neurodegenerative disease risk. However, prior studies are largely limited to European ancestry populations and differential...
4.
Leung M, Sanchez-Castillo M, Belnap N, Naymik M, Bonfitto A, Sloan J, et al.
Rare
. 2024 May;
2.
PMID: 38770537
Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay...
5.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, et al.
Clin Genet
. 2024 May;
106(1):114-115.
PMID: 38715525
FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and...
6.
Frankel E, Podder A, Sharifi M, Pillai R, Belnap N, Ramsey K, et al.
Cells
. 2023 Jul;
12(10).
PMID: 37408271
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 () cause classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have an overlapping...
7.
Jansen E, Naymik M, Thapaliya G, Huentelman M, Beauchemin J, DSa V, et al.
Front Nutr
. 2023 Jun;
10:1174441.
PMID: 37324730
Background: Food parenting practices are associated with child weight. Such associations may reflect the effects of parents' practices on children's food intake and weight. However, longitudinal, qualitative, and behavioral genetic...
8.
Ramsey K, Belnap N, Bonfitto A, Jepsen W, Naymik M, Sanchez-Castillo M, et al.
Mol Genet Genomic Med
. 2022 Jan;
10(2):e1857.
PMID: 34994087
No abstract available.
9.
Windsor R, Stewart S, Talboom J, Lewis C, Naymik M, Piras I, et al.
J Vet Intern Med
. 2021 Oct;
35(6):2846-2852.
PMID: 34687084
Background: Necrotizing meningoencephalitis (NME, aka Pug dog encephalitis) is an inflammatory brain condition associated with advanced disease at initial presentation, rapid progression, and poor response to conventional immunomodulatory therapy. Hypothesis/objectives:...
10.
De La Vega F, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez E, et al.
Genome Med
. 2021 Oct;
13(1):153.
PMID: 34645491
Background: Clinical interpretation of genetic variants in the context of the patient's phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases....