Purvi Majethia

4PUBLICATIONS
32CO-AUTHORS
NeonatologyNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Genetic immunology
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Publications (4)

|Jul 06, 2026
Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.

|Dec 28, 2024
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Manon Degoutin, Chloé Angelini, Claire Bar

|Feb 20, 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas

|Dec 19, 2023
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

Shruti Pande, Purvi Majethia, Karthik Nair

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Frequent Collaborators

2 joint publications

Dhanya Lakshmi Narayanan

2 joint publications

Anju Shukla

1 joint publications

Shruti Pande

1 joint publications

Karthik Nair