Nicola Longo

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Dominique P. Germain, Derralynn Hughes, Daniel G. Bichet et al. · New England Journal of Medicine · 2016 · 535 citations · Full text

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Viktor Lukacs, Jayanti Mathur, Rong Mao et al. · Nature Communications · 2015 · 300 citations · Full text

Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis

Judith Simcox, Gisela Geoghegan, J. Alan Maschek et al. · Cell Metabolism · 2017 · 269 citations · Full text

Lipid Analysis, Metabolic Syndrome, Energy Metabolism +10

Functional characterization of an EGF receptor with a truncated extracellular domain expressed in glioblastomas with EGFR gene amplification.

A. Jonas Ekstrand, Nicola Longo, Jeffrey J. Olson et al. · PubMed · 1994 · 257 citations

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

David Coelho, Jaeseung Kim, Isabelle R. Miousse et al. · Nature Genetics · 2012 · 233 citations

Vitamin Nutrition, Genetic Disorder, Genetics +10