Alessandro Rea
Manchester, ENG M139PL, United Kingdom
Last Updated: 09/26/2026
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Found 8 publications
Bi-allelic missense variants in human GPN2 result in Perrault syndrome.
Journal: American journal of human genetics
Published: March 27, 2026
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: medRxiv : the preprint server for health sciences
Published: October 17, 2024
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: American journal of human genetics
Published: October 09, 2024
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Journal: American journal of human genetics
Published: July 28, 2024
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Journal: European journal of human genetics : EJHG
Published: April 21, 2023
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Journal: American journal of human genetics
Published: August 24, 2021
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Journal: Human genetics
Published: April 29, 2021
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Last Updated: 09/26/2026