Jean K Mah
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Explore the profile of Jean K Mah including associated specialties, affiliations and a list of published articles.
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115
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2551
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Recent Articles
1.
Qian C, Klimchak A, Szabo S, Gooch K, Dragan R, Prior H, et al.
Muscle Nerve
. 2025 Feb;
PMID: 39945205
Aims: There are few long-term studies evaluating clinical outcomes and mortality among individuals with Duchenne muscular dystrophy (DMD); particularly using longitudinal health administrative claims data, reflecting populations managed in typical...
2.
McMillan H, Gonorazky H, Campbell C, Chrestian N, Crone M, Dowling J, et al.
Can J Neurol Sci
. 2024 Nov;
:1-3.
PMID: 39534980
No abstract available.
3.
Mercuri E, Vilchez J, Boespflug-Tanguy O, Zaidman C, Mah J, Goemans N, et al.
Lancet Neurol
. 2024 Mar;
23(4):393-403.
PMID: 38508835
Background: Duchenne muscular dystrophy, the most common childhood muscular dystrophy, is caused by dystrophin deficiency. Preclinical and phase 2 study data have suggested that givinostat, a histone deacetylase inhibitor, might...
4.
Dang U, Damsker J, Guglieri M, Clemens P, Perlman S, Smith E, et al.
Neurology
. 2024 Feb;
102(5):e208112.
PMID: 38335499
Background And Objectives: Vamorolone is a dissociative agonist of the glucocorticoid receptor that has shown similar efficacy and reduced safety concerns in comparison with prednisone in Duchenne muscular dystrophy (DMD)....
5.
Price T, Hodgkinson V, Westbury G, Korngut L, Innes M, Marshall C, et al.
Can J Neurol Sci
. 2024 Jan;
51(5):660-671.
PMID: 38178730
Objectives: Spinal muscular atrophy (SMA) is a leading genetic cause of infant death and represents a significant burden of care. An improved understanding of the epidemiology of SMA in Canada...
6.
Niri F, Nicholls J, Baptista Wyatt K, Walker C, Price T, Kelln R, et al.
Int J Neonatal Screen
. 2023 Aug;
9(3).
PMID: 37606479
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the () gene. Early diagnosis via newborn screening (NBS) and pre-symptomatic treatment are essential...
7.
Clemens P, Rao V, Connolly A, Harper A, Mah J, McDonald C, et al.
J Neuromuscul Dis
. 2023 Apr;
10(3):439-447.
PMID: 37005891
Background: Duchenne muscular dystrophy (DMD) is caused by DMD gene mutations, resulting in absence of functional dystrophin protein. Viltolarsen, an exon 53 skipping therapy, significantly increased dystrophin levels in patients...
8.
Sherlock S, Palmer J, Wagner K, Abdel-Hamid H, Tian C, Mah J, et al.
Sci Rep
. 2022 Nov;
12(1):18762.
PMID: 36335191
We evaluated whether whole-body dual-energy X-ray absorptiometry (DXA) measures of lean body mass can be used as biomarkers for disease progression and treatment effects in patients with Duchenne muscular dystrophy....
9.
Pacaud D, Romanchuk K, Virtanen H, Ferdousi M, Nettel-Aguirre A, Mah J, et al.
Pediatr Diabetes
. 2022 Sep;
23(8):1665-1673.
PMID: 36131228
Objective: In vivo corneal confocal microscopy (CCM) is a novel, rapid, and non-invasive technique that identifies early small fiber damage and can predict the progression and development of clinical neuropathy...
10.
Katz S, Blinder H, Newhook D, Bmus L, Nicholls S, McMillan H, et al.
Pediatr Pulmonol
. 2022 Sep;
58(1):46-54.
PMID: 36102618
Background: Despite recommendations for regular lung volume recruitment (LVR) use in clinical practice guidelines for children with neuromuscular disease, adherence to LVR is poor. We aimed to describe the experience...