Sniya Sudhakar
Overview
Explore the profile of Sniya Sudhakar including associated specialties, affiliations and a list of published articles.
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Articles
41
Citations
175
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0
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Recent Articles
11.
Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, DArco F, et al.
AJNR Am J Neuroradiol
. 2024 Aug;
45(10):1570-1577.
PMID: 39147584
Background And Purpose: Sotos syndrome is a rare autosomal dominant condition caused by pathogenic mutations in the gene that presents with craniofacial dysmorphism, overgrowth, seizures, and neurodevelopmental delay. Macrocephaly, ventriculomegaly,...
12.
Salazar-Villacorta A, Spaull R, Chowdhury S, Mukhtyar B, Chitre M, Armstrong R, et al.
Mov Disord Clin Pract
. 2024 Jul;
11(9):1149-1152.
PMID: 39082248
No abstract available.
13.
Gaur P, Gissen P, Biswas A, Mankad K, Sudhakar S, DArco F, et al.
AJNR Am J Neuroradiol
. 2024 Jul;
45(11):1791-1797.
PMID: 38977290
Background And Purpose: Neuronal ceroid lipofuscinoses are a group of neurodegenerative disorders. Recently, enzyme replacement therapy (ERT) was approved for neuronal ceroid lipofuscinosis type 2 (CLN2), a subtype of neuronal...
14.
Maio N, Orbach R, Zaharieva I, Topf A, Donkervoort S, Munot P, et al.
J Clin Invest
. 2024 Jul;
134(12).
PMID: 38950322
Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA) machinery for cluster acquisition. The core of the CIA...
15.
Van Goethem A, Mankad K, Sudhakar S, De Temmerman G, Van Hoyweghen A, Volders W, et al.
Forensic Sci Med Pathol
. 2024 Jun;
PMID: 38896346
We aimed to investigate the potential added value of postmortem MRI (PMMRI) in sudden unexpected infant death (SUID) cases referred to our center between September 2020 and June 2023. Ultimately,...
16.
Rahimian E, DArco F, Sudhakar S, Tahsini M, Azin N, Morovvati M, et al.
Neuroradiology
. 2024 Jun;
66(10):1829-1835.
PMID: 38880823
Introduction: Canavan disease (CD) is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of aspartoacylase A, an enzyme that degrades N-acetylaspartate (NAA). The disease is characterized by progressive...
17.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, et al.
Brain
. 2024 Mar;
147(8):2775-2790.
PMID: 38456468
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP...
18.
Balani A, Sidpra J, Sudhakar S, Biswas A, Oztekin O, Capra V, et al.
AJNR Am J Neuroradiol
. 2024 Feb;
PMID: 38360788
Dysraphic malformations of the spine and spinal cord (DMSSC) represent a spectrum of common congenital anomalies typically (though not exclusively) affecting the lower spinal segments. These may be responsible for...
19.
Maio N, Orbach R, Zaharieva I, Topf A, Donkervoort S, Munot P, et al.
medRxiv
. 2024 Jan;
PMID: 38196629
Cytoplasmic and nuclear iron-sulfur enzymes that are essential for genome maintenance and replication depend on the cytoplasmic iron-sulfur assembly (CIA) machinery for cluster acquisition. Here we report that patients with...
20.
Muthusamy K, Sivadasan A, Dixon L, Sudhakar S, Thomas M, Danda S, et al.
Front Neurol
. 2023 Aug;
14:1219324.
PMID: 37564735
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...