Chiara Aiello

Congenital muscular dystrophies with defective glycosylation of dystroglycan

Eugenio Mercuri, Sonia Messina, Claudio Bruno et al. · Neurology · 2009 · 185 citations

DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy

Rita Barone, Chiara Aiello, Valérie Race et al. · Annals of Neurology · 2012 · 149 citations

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

Célia Nogueira, Chiara Aiello, R. Cerone et al. · Molecular Genetics and Metabolism · 2008 · 109 citations

Cblc Type, Mendelian Disorder, Genetic Disorder +8

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Roberta Biancheri, Antonio Falace, Alessandra Tessa et al. · Biochemical and Biophysical Research Communications · 2007 · 96 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +9

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

Angela Lanciotti, Maria Stefania Brignone, Paola Molinari et al. · Human Molecular Genetics · 2012 · 75 citations · Full text

Mlc Pathogenesis, Immunology, Cell Death +19