EVIDENCE FOR NUCLEAR MODIFIER GENE IN MITOCHONDRIAL CARDIOMYOPATHY

Por Davidson, Mercy M., Walker, Winsome F., Hernandez-Rosa, Evelyn, Nesti, Claudia
Publicado em 2009

Syndromes associated with mitochondrial DNA depletion

Por Nogueira, Célia, Almeida, Ligia S, Nesti, Claudia, Pezzini, Ilaria, Videira, Arnaldo, Vilarinho, Laura, Santorelli, Filippo M
Publicado em 2014

Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum

Por Alessandrì, Maria G., Casarano, Manuela, Pezzini, Ilaria, Doccini, Stefano, Nesti, Claudia, Cioni, Giovanni, Battini, Roberta
Publicado no JIMD Rep (2014)

Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation

Por Bandettini di Poggio, Monica, Nesti, Claudia, Bruno, Claudio, Meschini, Maria Chiara, Schenone, Angelo, Santorelli, Filippo M
Publicado em 2013

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

Por Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro
Publicado no Mol Genet Metab Rep (2016)

Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

Por Peluso, Francesca, Palazzo, Viviana, Indolfi, Giuseppe, Mari, Francesco, Pasqualetti, Roberta, Procopio, Elena, Nesti, Claudia, Guerrini, Renzo, Santorelli, Filippo, Giglio, Sabrina
Publicado no BMC Med Genomics (2021)

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation

Por Minoia, Francesca, Bertamino, Marta, Picco, Paolo, Severino, Mariasavina, Rossi, Andrea, Fiorillo, Chiara, Minetti, Carlo, Nesti, Claudia, Santorelli, Filippo Maria, Di Rocco, Maja
Publicado no JIMD Rep (2017)

Expanding the clinical and genetic heterogeneity of SPAX5

Por Dosi, Claudia, Galatolo, Daniele, Rubegni, Anna, Doccini, Stefano, Pasquariello, Rosa, Nesti, Claudia, Sicca, Federico, Barghigiani, Melissa, Battini, Roberta, Tessa, Alessandra, Santorelli, Filippo M.
Publicado no Ann Clin Transl Neurol (2020)

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

Por De Michele, Giovanna, Sorrentino, Pierpaolo, Nesti, Claudia, Rubegni, Anna, Ruggiero, Lucia, Peluso, Silvio, Antenora, Antonella, Quarantelli, Mario, Filla, Alessandro, De Michele, Giuseppe, Santorelli, Filippo M.
Publicado no Front Neurol (2018)

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach

Por Seitun, Sara, Massobrio, Laura, Rubegni, Anna, Nesti, Claudia, Castiglione Morelli, Margherita, Boccalini, Sara, Galletto Pregliasco, Athena, Budaj, Irilda, Deferrari, Luca, Rosa, Gian Marco, Montecucco, Fabrizio, Valbusa, Alberto
Publicado no Case Rep Cardiol (2016)

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

Por Aretini, Paolo, Mazzanti, Chiara Maria, La Ferla, Marco, Franceschi, Sara, Lessi, Francesca, De Gregorio, Veronica, Nesti, Claudia, Valetto, Angelo, Bertini, Veronica, Toschi, Benedetta, Battini, Roberta, Caligo, Maria Adelaide
Publicado no BMC Neurol (2018)

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

Por Begliuomini, Chiara, Magli, Giorgio, Di Rocco, Maja, Santorelli, Filippo M., Cassandrini, Denise, Nesti, Claudia, Deodato, Federica, Diodato, Daria, Casellato, Susanna, Simula, Delia M., Dessì, Veronica, Eusebi, Anna, Carta, Alessandra, Sotgiu, Stefano
Publicado no BMC Med Genet (2019)

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction

Por Doccini, Stefano, Morani, Federica, Nesti, Claudia, Pezzini, Francesco, Calza, Giulio, Soliymani, Rabah, Signore, Giovanni, Rocchiccioli, Silvia, Kanninen, Katja M., Huuskonen, Mikko T., Baumann, Marc H., Simonati, Alessandro, Lalowski, Maciej M., Santorelli, Filippo M.
Publicado no Cell Death Discov (2020)

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

Por Manganelli, Fiore, Parisi, Silvia, Nolano, Maria, Tao, Feifei, Paladino, Simona, Pisciotta, Chiara, Tozza, Stefano, Nesti, Claudia, Rebelo, Adriana P., Provitera, Vincenzo, Santorelli, Filippo M., Shy, Michael E., Russo, Tommaso, Zuchner, Stephan, Santoro, Lucio
Publicado no Neurology (2017)