Author

Rahul Phadke

National Institute for Health and Care ResearchORCID 0000-0001-9699-2718Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1

Frequent Co-Authors

Francesco Muntoni AiD· 2 shared Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Aki Sato· 1 shared Alice Flynn Ford· 1 shared Alice KusteriD· 1 shared Ana TöpfiD· 1 shared Andrea KleiniD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersNeuroscience

Francesco Muntoni AORCID

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2 papers

Recent·Most cited

NeuroscienceActa Neuropathologica CommunicationsPeer-reviewedMay 21, 2025

A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain

Francesco Catapano, Reem R. Alkharji, Darren Chambers…·Francesco Muntoni A

This paper maps dystrophin isoform expression across human brain development and adulthood, revealing novel expression patterns in neurons and synapses.

16 citationstop 4%

human

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedApr 28, 2022

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort…·J. Paul Taylor

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

44 citations

humanexperimental assay

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