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Human Molecular Genetics|March 5, 2015
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathyClaudia Nesti, Maria Chiara Meschini, Brigitte Meunier, et al.
BMC Medical Genetics|May 9, 2019
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotypeChiara Begliuomini, Giorgio Magli, Maja Di Rocco, et al.
Brain & Development|January 24, 2021
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosisMaria Margherita Mancardi, Claudia Nesti, Francesca Febbo, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticusMichelangelo Mancuso, Claudia Nesti, Elena Caldarazzo Ienco, et al.
Neurology|May 5, 2017
Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VIFiore Manganelli, Silvia Parisi, Maria Nolano, et al.
Cell Death Discovery|April 8, 2020
Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunctionStefano Doccini, Federica Morani, Claudia Nesti, et al.
Neurogenetics|March 28, 2013
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiencyCélia Nogueira, José Barros, Maria José Sá, et al.
Neurogenetics|April 25, 2012
TRPV4 mutations in children with congenital distal spinal muscular atrophyChiara Fiorillo, Francesca Moro, Giacomo Brisca, et al.
Frontiers in Genetics|September 5, 2024
Severe mitochondrial encephalomyopathy caused by <i>de novo</i> variants in <i>OPA1</i> geneMichela Di Nottia, Teresa Rizza, Enrico Baruffini, et al.
International Journal of Molecular Sciences|May 27, 2023
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy PhenotypesEmanuele Monda, Michele Lioncino, Martina Caiazza, et al.
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