EVIDENCE FOR NUCLEAR MODIFIER GENE IN MITOCHONDRIAL CARDIOMYOPATHY

nork Davidson, Mercy M., Walker, Winsome F., Hernandez-Rosa, Evelyn, Nesti, Claudia
Argitaratua 2009

Syndromes associated with mitochondrial DNA depletion

nork Nogueira, Célia, Almeida, Ligia S, Nesti, Claudia, Pezzini, Ilaria, Videira, Arnaldo, Vilarinho, Laura, Santorelli, Filippo M
Argitaratua 2014

Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum

nork Alessandrì, Maria G., Casarano, Manuela, Pezzini, Ilaria, Doccini, Stefano, Nesti, Claudia, Cioni, Giovanni, Battini, Roberta
Argitaratua izan da JIMD Rep (2014)

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

nork Bandettini di Poggio, Monica, Nesti, Claudia, Bruno, Claudio, Meschini, Maria Chiara, Schenone, Angelo, Santorelli, Filippo M
Argitaratua 2013

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

nork Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro
Argitaratua izan da Mol Genet Metab Rep (2016)

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

nork Peluso, Francesca, Palazzo, Viviana, Indolfi, Giuseppe, Mari, Francesco, Pasqualetti, Roberta, Procopio, Elena, Nesti, Claudia, Guerrini, Renzo, Santorelli, Filippo, Giglio, Sabrina
Argitaratua izan da BMC Med Genomics (2021)

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

nork Minoia, Francesca, Bertamino, Marta, Picco, Paolo, Severino, Mariasavina, Rossi, Andrea, Fiorillo, Chiara, Minetti, Carlo, Nesti, Claudia, Santorelli, Filippo Maria, Di Rocco, Maja
Argitaratua izan da JIMD Rep (2017)

Expanding the clinical and genetic heterogeneity of SPAX5

nork Dosi, Claudia, Galatolo, Daniele, Rubegni, Anna, Doccini, Stefano, Pasquariello, Rosa, Nesti, Claudia, Sicca, Federico, Barghigiani, Melissa, Battini, Roberta, Tessa, Alessandra, Santorelli, Filippo M.
Argitaratua izan da Ann Clin Transl Neurol (2020)

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

nork 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.
Argitaratua izan da Front Neurol (2018)

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach

nork 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
Argitaratua izan da Case Rep Cardiol (2016)

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

nork 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
Argitaratua izan da BMC Neurol (2018)

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

nork 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
Argitaratua izan da BMC Med Genet (2019)

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

nork 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.
Argitaratua izan da Cell Death Discov (2020)

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

nork 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
Argitaratua izan da Neurology (2017)