Mridul Johari
Overview
Explore the profile of Mridul Johari including associated specialties, affiliations and a list of published articles.
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Articles
36
Citations
258
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Recent Articles
1.
Lillback V, Bergant G, Di Feo M, Bozovic I, Torella A, Johari M, et al.
J Med Genet
. 2025 Mar;
PMID: 40044418
Background: Inherited rare skeletal muscle diseases cause muscle weakness and wasting of variable severity. Without a molecular diagnosis, patients often endure prolonged diagnostic journeys, leading to delays in appropriate management...
2.
Oghabian A, Jonson P, Gayathri S, Johari M, Nippala E, Andres D, et al.
Skelet Muscle
. 2025 Mar;
15(1):5.
PMID: 40025502
Background: Highly expressed in skeletal muscles, the gene Obscurin (i.e. OBSCN) has 121 non-overlapping exons and codes for some of the largest known mRNAs in the human genome. Furthermore, it...
3.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, et al.
Genet Med
. 2025 Mar;
:101399.
PMID: 40023774
Purpose: Heterozygous pathogenic variants in SPTAN1 cause a diverse spectrum of neurogenetic disorders ranging from peripheral and central nervous system involvement to complex syndromic presentations. We set out to investigate...
4.
Giannini M, Bhai S, Boyer O, Cheng K, Johari M, Korsten P, et al.
Clin Exp Rheumatol
. 2025 Feb;
43(2):178-183.
PMID: 39932802
No abstract available.
5.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
6.
Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
Wijnbergen D, Johari M, Ozisik O, t Hoen P, Ehrhart F, Baudot A, et al.
Orphanet J Rare Dis
. 2025 Jan;
20(1):27.
PMID: 39815348
Background: Inclusion Body Myositis is an acquired muscle disease. Its pathogenesis is unclear due to the co-existence of inflammation, muscle degeneration and mitochondrial dysfunction. We aimed to provide a more...
7.
Cortese A, Beecroft S, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, et al.
Nat Commun
. 2024 Oct;
15(1):8955.
PMID: 39419991
No abstract available.
8.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, et al.
medRxiv
. 2024 Oct;
PMID: 39371122
Background: Neurogenetic disorders caused by pathogenic variants in four genes encoding non-erythrocytic spectrins ( range from peripheral and central nervous system involvement to complex syndromic presentations. Heterozygous pathogenic variants in...
9.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, et al.
Ann Clin Transl Neurol
. 2024 Aug;
11(9):2268-2276.
PMID: 39215466
Objective: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age...
10.
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, et al.
J Med Genet
. 2024 Aug;
61(10):992-998.
PMID: 39209426
Background: Weakness of facial, ocular and axial muscles is a common clinical presentation in congenital myopathies caused by pathogenic variants in genes encoding triad proteins. Abnormalities in triad structure and...