EVIDENCE FOR NUCLEAR MODIFIER GENE IN MITOCHONDRIAL CARDIOMYOPATHY

door Davidson, Mercy M., Walker, Winsome F., Hernandez-Rosa, Evelyn, Nesti, Claudia
Gepubliceerd in 2009

Syndromes associated with mitochondrial DNA depletion

door Nogueira, Célia, Almeida, Ligia S, Nesti, Claudia, Pezzini, Ilaria, Videira, Arnaldo, Vilarinho, Laura, Santorelli, Filippo M
Gepubliceerd in 2014

Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum

door Alessandrì, Maria G., Casarano, Manuela, Pezzini, Ilaria, Doccini, Stefano, Nesti, Claudia, Cioni, Giovanni, Battini, Roberta
Gepubliceerd in JIMD Rep (2014)

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

door Bandettini di Poggio, Monica, Nesti, Claudia, Bruno, Claudio, Meschini, Maria Chiara, Schenone, Angelo, Santorelli, Filippo M
Gepubliceerd in 2013

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

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

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

door Peluso, Francesca, Palazzo, Viviana, Indolfi, Giuseppe, Mari, Francesco, Pasqualetti, Roberta, Procopio, Elena, Nesti, Claudia, Guerrini, Renzo, Santorelli, Filippo, Giglio, Sabrina
Gepubliceerd in BMC Med Genomics (2021)

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

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

Expanding the clinical and genetic heterogeneity of SPAX5

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

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

door 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.
Gepubliceerd in Front Neurol (2018)

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach

door 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
Gepubliceerd in Case Rep Cardiol (2016)

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

door 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
Gepubliceerd in BMC Neurol (2018)

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

door 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
Gepubliceerd in BMC Med Genet (2019)

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

door 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.
Gepubliceerd in Cell Death Discov (2020)

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

door 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
Gepubliceerd in Neurology (2017)