EVIDENCE FOR NUCLEAR MODIFIER GENE IN MITOCHONDRIAL CARDIOMYOPATHY

ανά Davidson, Mercy M., Walker, Winsome F., Hernandez-Rosa, Evelyn, Nesti, Claudia
Έκδοση 2009

Syndromes associated with mitochondrial DNA depletion

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

Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum

ανά Alessandrì, Maria G., Casarano, Manuela, Pezzini, Ilaria, Doccini, Stefano, Nesti, Claudia, Cioni, Giovanni, Battini, Roberta
Τόπος έκδοσης JIMD Rep (2014)

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

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

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

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

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

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

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

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

Expanding the clinical and genetic heterogeneity of SPAX5

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

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

ανά 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.
Τόπος έκδοσης Front Neurol (2018)

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach

ανά 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
Τόπος έκδοσης Case Rep Cardiol (2016)

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

ανά 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
Τόπος έκδοσης BMC Neurol (2018)

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

ανά 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
Τόπος έκδοσης BMC Med Genet (2019)

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

ανά 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.
Τόπος έκδοσης Cell Death Discov (2020)

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

ανά 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
Τόπος έκδοσης Neurology (2017)