Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Karthik Muthusamy"'
Autor:
Judit M. Perez Ortiz, Karthik Muthusamy, W. Oliver Tobin, Ralitza Gavrilova, Margot A. Cousin, Radhika Dhamija
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-5 (2024)
Abstract Introduction LMNB1-related autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurodegenerative disorder caused by overexpression of LMNB1. We retrospectively reviewed charts of all ADLD patients seen at Mayo Clinic. Methods Al
Externí odkaz:
https://doaj.org/article/fee64c72926d496d85722fdda5e4b36d
Publikováno v:
Boundary Value Problems, Vol 2024, Iss 1, Pp 1-21 (2024)
Abstract In this paper, the coupled system of sequential ψ-Hilfer fractional boundary value problems with non-instantaneous impulses is investigated. The existence results of the system are proved by means of topological degree theory. An example is
Externí odkaz:
https://doaj.org/article/28f50b40c56644c5b8cce98df02a9518
Autor:
M. Latha Maheswari, Karthik Muthusamy
Publikováno v:
Partial Differential Equations in Applied Mathematics, Vol 12, Iss , Pp 100938- (2024)
This paper focuses on the analysis of a class of stochastic differential equations with tempered φ-Caputo fractional derivative (φ-CFD) and Lévy noise. We propose comprehensive mathematical techniques to address the existence, uniqueness and stabi
Externí odkaz:
https://doaj.org/article/5c9c7c264ba442b5a8e09539893ee88d
Autor:
Marta Figueiral, Alessia Paldino, Matheus Wilke, Brendan Lanpher, Ralitza Gavrilova, Karthik Muthusamy, Pavel Pichurin, Radhika Dhamija, Klaas Wierenga, Myra Wick, Lisa Schimmenti, Konstantinos Lazaridis, Eric Klee, Naveen Pereira
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101082- (2024)
Externí odkaz:
https://doaj.org/article/7a9d6173cd064d2da1876bff2796b054
Autor:
Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K. Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age. Mis
Externí odkaz:
https://doaj.org/article/69fe0cc3850640e493d9a0edebafc3c1
Autor:
Sirisha Varala, Renu George, Lydia Mathew, Paul Russell, Beena Koshy, Samuel P Oommen, Maya Thomas, Karthik Muthusamy, Sangeetha Yoganathan, L Jeyaseelan, Jayaprakash Muliyil
Publikováno v:
Indian Dermatology Online Journal, Vol 12, Iss 1, Pp 84-89 (2021)
Background and Aims: Cutaneous lesions are the defining features of several neurocutaneous syndromes like neurofibromatosis1(NF1), tuberous sclerosis complex (TSC), and Sturge Weber syndrome to name a few. With this background, we explored the possib
Externí odkaz:
https://doaj.org/article/8d7457be741549cf965f67aa1c183625
Autor:
Shikha Jain, Karthik Muthusamy, T S Bernice, Himanshu Pansuriya, Anu Punnen, Sathish Kumar, Maya Mary Thomas
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 6, Pp 986-989 (2021)
Externí odkaz:
https://doaj.org/article/86bdc14d5ae944dbb7bbfe6e4c5e37ae
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
Autor:
Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical s
Externí odkaz:
https://doaj.org/article/8184bd3472574ff0852a9d101a250343
Autor:
Katelynn M. Wilton, Joel A. Morales‐Rosado, Duygu Selcen, Karthik Muthusamy, Sarah Ewing, Katherine Agre, Katherine Nickels, Eric W. Klee, Mai‐Lan Ho, Eva Morava
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 22-28 (2020)
Abstract Mitochondria play a variety of roles in the cell, far beyond their widely recognized role in ATP generation. One such role is the regulation and sequestration of calcium, which is done with the help of the mitochondrial calcium uniporter (MC
Externí odkaz:
https://doaj.org/article/c12755637963483b8b2f5522ea83d79e
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Background Biallelic pathogenic variants in HTRA1 cause CARASIL. More recently, monoallelic variants have been associated with the autosomal dominant disorder CADASIL2 but not all carriers develop disease manifestations. We describe the clin
Externí odkaz:
https://doaj.org/article/2962f7d32b1f48f1a28dc54b74eb2e4e