Anirban Majumdar
Bristol, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 25 publications
Conflicts in Best Interest; Infants with severe neuromuscular disorders presenting to UK Courts.
Journal: Journal of neuromuscular diseases
Published: May 06, 2026
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.
Journal: EMBO molecular medicine
Published: May 06, 2025
Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing.
Journal: Case reports in pediatrics
Published: March 08, 2025
Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.
Journal: Clinical genetics
Published: January 02, 2025
Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1.
Journal: Neuromuscular disorders : NMD
Published: June 07, 2024
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.
Journal: Journal of neuromuscular diseases
Published: January 08, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Journal: American journal of human genetics
Published: November 12, 2023
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.
Journal: Neurology. Clinical practice
Published: October 23, 2023
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
Journal: The Lancet regional health. Europe
Published: September 26, 2023
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Journal: Annals of neurology
Published: August 24, 2023
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: July 07, 2023
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.
Journal: Clinical genetics
Published: June 28, 2022
Last Updated: 09/26/2026