Andrea Legati

Istituto Neurologico Carlo Besta - Milano / Italy

Medical and Health Sciences / Neurology

AD Scientific Index ID: 4696643

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Andrea Legati's MOST POPULAR ARTICLES

1-) Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export A Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ... Nature genetics 47 (6), 579-581, 2015 2262015

2-) New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies A Legati, A Reyes, A Nasca, F Invernizzi, E Lamantea, V Tiranti, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1857 (8), 1326-1335, 2016 1002016

3-) Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers G Nicolas, C Charbonnier, RR de Lemos, AC Richard, O Guillin, D Wallon, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 168 …, 2015 772015

4-) Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain CalcificationRR Lemos, EM Ramos, A Legati, G Nicolas, EM Jenkinson, JH Livingston, ...Human mutation 36 (5), 489-495, 2015872015

5-) Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile EncephalopathyA Nasca, A Legati, E Baruffini, C Nolli, I Moroni, A Ardissone, P Goffrini, ...Human mutation 37 (9), 898-903, 2016752016

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