Anjana Sevagamoorthy
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Explore the profile of Anjana Sevagamoorthy including associated specialties, affiliations and a list of published articles.
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11
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13
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Recent Articles
1.
Gavazzi F, Charsar B, Hamilton E, Erler J, Patel V, Woidill S, et al.
Mol Genet Metab
. 2025 Feb;
144(3):109048.
PMID: 39951964
We establish the natural history of pediatric-onset TUBB4A-related leukodystrophy to improve clinical trial readiness through a medical record-based longitudinal study. An international cohort of 216 individuals with pediatric-onset TUBB4A-related leukodystrophy...
2.
Mutua S, Sevagamoorthy A, Woidill S, Orchard P, Gavazzi F, MacFarland S, et al.
Mol Genet Metab
. 2024 Dec;
144(1):109003.
PMID: 39733668
Metachromatic leukodystrophy (MLD) is a progressive demyelinating disorder resulting from the toxic accumulation of sulfatides. The stereotyped neurodegeneration of MLD is well understood, and cases are categorized into subtypes by...
3.
Kotes E, Gavazzi F, Woidill S, Sevagamoorthy A, Yang E, Smith V, et al.
J Child Neurol
. 2024 Oct;
40(1):15-25.
PMID: 39376195
β-Propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked condition caused by pathogenic variants in the gene that result in a defect of autophagy. Classified as a disorder of neurodegeneration with...
4.
Peixoto de Barcelos I, Jan A, Modesti N, Woidill S, Gavazzi F, Isaacs D, et al.
Mol Genet Metab
. 2024 Sep;
143(1-2):108578.
PMID: 39332260
Objective: Aicardi Goutières Syndrome (AGS) is a rare genetic interferonopathy associated with diverse multisystemic complications. A critical gap exists in our understanding of its longitudinal, systemic disease burden, complicated by...
5.
Sevagamoorthy A, Vanderver A, Fraser J, Orthmann-Murphy J
Cold Spring Harb Perspect Biol
. 2024 Aug;
PMID: 39134377
Inherited white matter disorders (IWMDs) are a phenotypically and genotypically heterogeneous group of disorders affecting the central nervous system (CNS) with or without peripheral neuropathy. They are classified either as...
6.
Adang L, Groeschel S, Grzyb C, DAiello R, Gavazzi F, Sherbini O, et al.
Mol Genet Metab
. 2024 Jul;
142(4):108521.
PMID: 38964050
Objective: Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disorder. Emerging therapies are most effective in the presymptomatic phase, and thus defining this window is critical. We hypothesize that early development...
7.
Gavazzi F, Vaia Y, Woidill S, Formanowski B, Peixoto de Barcelos I, Sevagamoorthy A, et al.
Neurology
. 2024 Jun;
103(1):e209541.
PMID: 38857477
Background And Objectives: Aicardi Goutières syndrome (AGS) is type I interferonopathy characterized by severe neurologic impairment. Although many children with AGS demonstrate motor and expressive language deficits, the magnitude of...
8.
Adang L, Sevagamoorthy A, Sherbini O, Fraser J, Bonkowsky J, Gavazzi F, et al.
Mol Genet Metab
. 2024 Mar;
142(1):108453.
PMID: 38522179
Growing interest in therapeutic development for rare diseases necessitate a systematic approach to the collection and curation of natural history data that can be applied consistently across this group of...
9.
Peixoto de Barcelos I, Woidill S, Gavazzi F, Modesti N, Sevagamoorthy A, Vanderver A, et al.
Mol Genet Metab
. 2024 Feb;
142(1):108346.
PMID: 38368708
Objective: Aicardi Goutières Syndrome (AGS) is a genetic interferonopathy associated with multisystemic heterogeneous disease and neurologic dysfunction. AGS includes a broad phenotypic spectrum which is only partially explained by genotype....
10.
Lamb J, Fitzsimmons R, Sevagamoorthy A, Kovarik C, Shin D, Takeshita J
JMIR Dermatol
. 2023 Aug;
5(4):e38694.
PMID: 37632882
Background: The COVID-19 pandemic necessitated the widespread adoption of teledermatology, and this continues to account for a significant proportion of dermatology visits after clinics have reopened for in-person care. Delivery...