Clarissa Rocca

5PUBLICATIONS
94CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Medical biochemistry - proteins and peptides (incl. medical proteomics)NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Special education and disability
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Publications (5)

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Oct 09, 2023
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.

Tanya Lam, Clarissa Rocca, Kristina Ibanez

|Jul 23, 2022
GGPS1-associated muscular dystrophy with and without hearing loss.

Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca

|Jun 10, 2022
Biallelic loss of EMC10 leads to mild to severe intellectual disability.

Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri

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