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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 16, 2021
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote motherKuntal Sen, George Grahame, Jirair K Bedoyan, et al.Neurology. Genetics|December 1, 2025
Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving LandscapeAyush Gupta, Dhwani Sahjwani, Ilana Kahn, et al.Frontiers in Neurology|May 17, 2021
Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the BlueKuntal Sen, Afrouz A Anderson, Matthew T Whitehead, et al.Neuropediatrics|January 17, 2019
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported ConditionKuntal Sen, Melissa A Hicks, A H M Huq, et al.AJP Reports|February 5, 2021
Biallelic Variants in <i>LAMB1</i> Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative EncephalopathyKuntal Sen, Shagun Kaur, David W Stockton, et al.Analytical Biochemistry|October 12, 2021
Fifteen years of urea cycle disorders brain research: Looking back, looking forwardKuntal Sen, Matthew Whitehead, Carlos Castillo Pinto, et al.Journal of Pediatric Genetics|May 8, 2019
Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in MichiganKuntal Sen, Michael D Felice, Allison Bannick, et al.Journal of Neurology|April 2, 2021
Management considerations for stroke-like episodes in MELAS with concurrent COVID-19 infectionKuntal Sen, Dana Harrar, Andrea Hahn, et al.American Journal of Medical Genetics. Part A|June 28, 2024
COL4A1-related disorder as a mimic of congenital TORCHES infection-Expanding the clinical, neuroimaging and genotype spectrumNatalie A Kukulka, Sanam Zarei, Joshua Glass, et al.Journal of Child Neurology|June 3, 2022
Gaps in Neurogenetics Education During Child Neurology Residency: Results of a National SurveyKuntal Sen, Marc T DiSabella, Jennifer Harmon, et al.Pageof 4