Rashmi Kothary
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Explore the profile of Rashmi Kothary including associated specialties, affiliations and a list of published articles.
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141
Citations
2851
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Recent Articles
1.
de Almeida M, De Repentigny Y, Gagnon S, Sutton E, Kothary R
Elife
. 2025 Feb;
13.
PMID: 39976226
Spinal muscular atrophy (SMA) is caused by mutations in the Survival Motor Neuron 1 () gene. While traditionally viewed as a motor neuron disorder, there is involvement of various peripheral...
2.
Reilly A, Beauvais A, Al-Aarg M, Yaworski R, Sutton E, Thebault S, et al.
J Neuromuscul Dis
. 2025 Feb;
11(6):1200-1210.
PMID: 39973467
Background: Spinal Muscular Atrophy (SMA) is an inherited neurodegenerative disease caused by the loss or mutation of the survival motor neuron 1 ) gene. Though classically regarded as a motor...
3.
Warman-Chardon J, Jasmin B, Kothary R, Parks R
J Neuromuscul Dis
. 2025 Feb;
12(1):22143602241304993.
PMID: 39973448
The 6th Ottawa International Conference in Neuromuscular Disease and Biology was held on September 7-9, 2023 in Ottawa, Canada. The goal of the conference was to assemble international experts in...
4.
Skeletal Muscle Mitochondrial and Autophagic Dysregulation Are Modifiable in Spinal Muscular Atrophy
Mikhail A, Ng S, Xhuti D, Lesinski M, Chhor J, Deguise M, et al.
J Cachexia Sarcopenia Muscle
. 2025 Feb;
16(1):e13701.
PMID: 39901351
Background: Spinal muscular atrophy (SMA) is a health- and life-limiting neuromuscular disorder. Although varying degrees of mitochondrial abnormalities have been documented in SMA skeletal muscle, the influence of disease progression...
5.
Gurriaran-Rodriguez U, Datzkiw D, Radusky L, Esper M, Javandoost E, Xiao F, et al.
Sci Adv
. 2024 Dec;
10(50):eado5914.
PMID: 39661666
Wnt proteins are hydrophobic glycoproteins that are nevertheless capable of long-range signaling. We found that Wnt7a is secreted long distance on the surface of extracellular vesicles (EVs) following muscle injury....
6.
Sutton E, Beauvais A, Yaworski R, De Repentigny Y, Reilly A, de Almeida M, et al.
EBioMedicine
. 2024 Nov;
110:105444.
PMID: 39515026
Background: The liver is a key metabolic organ, acting as a hub to metabolically connect various tissues. Spinal muscular atrophy (SMA) is a neuromuscular disorder whereby patients have an increased...
7.
Liu H, Chehade L, Deguise M, De Repentigny Y, Kothary R
Hum Mol Genet
. 2024 Nov;
34(1):21-31.
PMID: 39505369
Spinal muscular atrophy (SMA) is characterized by low levels of the ubiquitously expressed Survival Motor Neuron (SMN) protein, leading to progressive muscle weakness and atrophy. Skeletal muscle satellite cells play...
8.
Gurriaran-Rodriguez U, De Repentigny Y, Kothary R, Rudnicki M
Skelet Muscle
. 2024 Oct;
14(1):22.
PMID: 39394606
We have recently made the strikingly discovery that upon a muscle injury, Wnt7a is upregulated and secreted from new regenerating myofibers on the surface of exosomes to elicit its myogenerative...
9.
Tapken I, Schweitzer T, Paganin M, Schuning T, Detering N, Sharma G, et al.
Brain
. 2024 Aug;
148(2):580-596.
PMID: 39183150
Monogenic diseases are well-suited paradigms for the causal analysis of disease-driving molecular patterns. Spinal muscular atrophy (SMA) is one such monogenic model, caused by mutation or deletion of the survival...
10.
Kornfeld S, Cummings S, Yaworski R, De Repentigny Y, Gagnon S, Zandee S, et al.
Commun Biol
. 2024 Jul;
7(1):813.
PMID: 38965401
Strategies for treating progressive multiple sclerosis (MS) remain limited. Here, we found that miR-145-5p is overabundant uniquely in chronic lesion tissues from secondary progressive MS patients. We induced both acute...