Concepedia

Andrea Legati

AL

Statistics

Publications

30

Citations

1.6K

H-Index

23

Active since

2014

Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta(Current)

University of Milan

University of California, Los Angeles

Bambino Gesù Children's Hospital

Inserm

Andrea Legati is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

2014–2023

30

Publications

30

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati, Donatella Giovannini, Gaël Nicolas et al. · Nature Genetics · 2015 · 316 citations · Full text

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New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Andrea Legati, Aurelio Reyes, Alessia Nasca et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2016 · 100 citations · Full text

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Brain calcification process and phenotypes according to age and sex: Lessons from <i>SLC20A2</i>, <i>PDGFB</i>, and <i>PDGFRB</i> mutation carriers

Gaël Nicolas, Camille Charbonnier, Roberta R. Lemos et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2015 · 98 citations

, , +17

Biallelic Mutations in <i>DNM1L</i> are Associated with a Slowly Progressive Infantile Encephalopathy

Alessia Nasca, Andrea Legati, Enrico Baruffini et al. · Human Mutation · 2016 · 79 citations · Full text

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Primary brain calcification: an international study reporting novel variants and associated phenotypes

Eliana Marisa Ramos, Miryam Carecchio, Roberta R. Lemos et al. · European Journal of Human Genetics · 2018 · 73 citations · Full text

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