Maria Chiara Meschini

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Rosalba Carrozzo, Carlo Dionisi‐Vici, Ulrike Steuerwald et al. · Brain · 2007 · 204 citations · Full text

Genetics, Pathology, Molecular Biology +20

CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis

Alberto di Ronza, Lakshya Bajaj, Jai Prakash Sharma et al. · Nature Cell Biology · 2018 · 108 citations · Full text

Lysosome Biogenesis, Signal Transduction, Natural Sciences +9

Pontocerebellar hypoplasia type 6 caused by mutations in <i>RARS2</i>: definition of the clinical spectrum and molecular findings in five patients

Denise Cassandrini, Maria Roberta Cilio, Marzia Bianchi et al. · Journal of Inherited Metabolic Disease · 2012 · 78 citations

Understanding pyrroline‐5‐carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure‐based analysis, and novel therapy with arginine

Diego Martinelli, Johannes Häberle, Vicente Rubio et al. · Journal of Inherited Metabolic Disease · 2011 · 59 citations

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Chiara Criscuolo, Claudio Procaccini, Maria Chiara Meschini et al. · Journal of Neurology · 2015 · 51 citations

Biology, Genetics, Powerhouse Failure +2