Dr Anirban Majumdar
Current positions
Honorary Senior Lecturer
Bristol Medical School (PHS)
Contact
Press and media
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Publications
Recent publications
01/11/2022Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model
Clinical Genetics
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
Neuromuscular Disorders
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Nature Genetics
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
Journal of neuromuscular diseases
Clinical presentation and proteomic signature of patients with TANGO2 mutations
Journal of Inherited Metabolic Disease