Ashwin Dalal
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Explore the profile of Ashwin Dalal including associated specialties, affiliations and a list of published articles.
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Articles
133
Citations
877
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Recent Articles
11.
Kar A, P S, Dalal A
J Biosci
. 2024 Feb;
49.
PMID: 38383979
Rare genetic diseases are rare by themselves with prevalence of 1 in 25,000, but collectively they are a significant cause of morbidity and mortality. Till date, collectively there are more...
12.
Sithambaram S, Jacob P, Neethukrishna K, Bhavani G, Dalal A, Shah H, et al.
Am J Med Genet A
. 2024 Feb;
194(7):e63566.
PMID: 38357848
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome is a recently described skeletal ciliopathy, which is caused by disease-causing variants in PRKACA. The primary phenotypic description includes atrial septal defects, and limb...
13.
Nair L, Nurul Jain J, Dalal A, Ranganath P
Pediatr Neurol
. 2024 Jan;
152:130-152.
PMID: 38277958
Background: White matter (WM) disorders with a genetic etiology are classified as leukodystrophies (LDs) and genetic leukoencephalopathies (GLEs). There are very few studies pertaining to the etiologic spectrum of these...
14.
Gonawala L, Wijekoon N, Attanayake D, Ratnayake P, Sirisena D, Gunasekara H, et al.
Eur J Hum Genet
. 2024 Jan;
32(10):1299-1306.
PMID: 38253783
The inherited disease community in Sri Lanka has been widely neglected. This article aimed to present accumulated knowledge in establishing a pro bono cost-effective national, island-wide, free-of-charge molecular diagnostic service,...
15.
Wijekoon N, Gonawala L, Ratnayake P, Liyanage R, Amaratunga D, Hathout Y, et al.
Eur J Med Res
. 2024 Jan;
29(1):37.
PMID: 38195599
Background: The phenotype of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients is determined by the type of DMD gene variation, its location, effect on reading frame, and...
16.
Jacob P, Lindelof H, Rustad C, Sutton V, Moosa S, Udupa P, et al.
NPJ Genom Med
. 2023 Nov;
8(1):39.
PMID: 37993442
Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondylar and epimetaphyseal dysplasia affecting...
17.
Mathews I, Wagh S, Baby A, Chandrashekar L, Dalal A
Clin Exp Dermatol
. 2023 Nov;
49(4):437-440.
PMID: 37966719
No abstract available.
18.
Pasumarthi D, Ranganath P, Mandal K, Lakshmi N, Dalal A, Aggarwal S
Indian J Med Res
. 2023 Oct;
158(3):319-323.
PMID: 37861627
No abstract available.
19.
Wijekoon N, Gonawala L, Ratnayake P, Amaratunga D, Hathout Y, Mohan C, et al.
J Clin Med
. 2023 Sep;
12(17).
PMID: 37685704
Brain function and its effect on motor performance in Duchenne muscular dystrophy (DMD) is an emerging concept. The present study explored how cumulative dystrophin isoform loss, age, and a corticosteroid...
20.
Wijekoon N, Gonawala L, Ratnayake P, Dissanayaka P, Gunarathne I, Amaratunga D, et al.
Heliyon
. 2023 Aug;
9(8):e18530.
PMID: 37593636
Introduction: Documented Duchenne Muscular Dystrophy (DMD) biomarkers are confined to Caucasians and are poor indicators of cognitive difficulties and neuropsychological alterations. Materials And Methods: This study correlates serum protein signatures...