Data for: Benign Hereditary Chorea and deletions outside NKX2-1: what’s the role of MBIP?

oleh Ghezzi, Daniele
Terbitan: Mendeley, 2018

Data for: Benign Hereditary Chorea and deletions outside NKX2-1: what’s the role of MBIP?

oleh Ghezzi, Daniele
Terbitan: Mendeley, 2018

Data related to article "Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions"

oleh Ghezzi, Daniele, Legati, Andrea
Terbitan: 2021

ENDOG_NGS data related to article "Biallelic variants in ENDOG associated with mitochondrial myopathy and multiple mtDNA deletions" submitted to Cells

oleh Nasca, Alessia, Legati, Andrea, Ghezzi, Daniele
Terbitan: 2022

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

oleh Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia
Terbitan: 2018