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High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
Published in:
Cephalalgia, 2010, v. 30, n. 8, p. 919, doi. 10.1177/0333102409354654
By:
- Cevoli, Sabina;
- Pallotti, Francesco;
- Morgia, Chiara La;
- Valentino, Maria L;
- Pierangeli, Giulia;
- Cortelli, Pietro;
- Baruzzi, Agostino;
- Montagna, Pasquale;
- Carelli, Valerio
Publication type:
Article
A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck.
Published in:
PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096663
By:
- Pallotti, Francesco;
- Binelli, Giorgio;
- Fabbri, Raffaella;
- Valentino, Maria L.;
- Vicenti, Rossella;
- Macciocca, Maria;
- Cevoli, Sabina;
- Baruzzi, Agostino;
- DiMauro, Salvatore;
- Carelli, Valerio
Publication type:
Article
Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?
Published in:
Environmental Health Perspectives, 2007, v. 115, n. 1, p. 113, doi. 10.1289/ehp.9245
By:
- Carelli, Valerio;
- Franceschini, Flavia;
- Venturi, Silvia;
- Barboni, Piero;
- Savini, Giacomo;
- Barbieri, Giuseppe;
- Pirro, Ettore;
- La Morgia, Chiara;
- Valentino, Maria L.;
- Zanardi, Francesca;
- Violante, Francesco S.;
- Mattioli, Stefano
Publication type:
Article
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1200, doi. 10.1002/acn3.51329
By:
- Gramegna, Laura L.;
- Evangelisti, Stefania;
- Di Vito, Lidia;
- La Morgia, Chiara;
- Maresca, Alessandra;
- Caporali, Leonardo;
- Amore, Giulia;
- Talozzi, Lia;
- Bianchini, Claudio;
- Testa, Claudia;
- Manners, David N.;
- Cortesi, Irene;
- Valentino, Maria L.;
- Liguori, Rocco;
- Carelli, Valerio;
- Tonon, Caterina;
- Lodi, Raffaele
Publication type:
Article
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Published in:
2020
By:
- Caporali, Leonardo;
- Magri, Stefania;
- Legati, Andrea;
- Del Dotto, Valentina;
- Tagliavini, Francesca;
- Balistreri, Francesca;
- Nasca, Alessia;
- La Morgia, Chiara;
- Carbonelli, Michele;
- Valentino, Maria L.;
- Lamantea, Eleonora;
- Baratta, Silvia;
- Schöls, Ludger;
- Schüle, Rebecca;
- Barboni, Piero;
- Cascavilla, Maria L.;
- Maresca, Alessandra;
- Capristo, Mariantonietta;
- Ardissone, Anna;
- Pareyson, Davide
Publication type:
journal article
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
Published in:
Journal of Neurology, 2023, v. 270, n. 1, p. 559, doi. 10.1007/s00415-022-11355-w
By:
- Amore, Giulia;
- Vacchiano, Veria;
- La Morgia, Chiara;
- Valentino, Maria L.;
- Caporali, Leonardo;
- Fiorini, Claudio;
- Ormanbekova, Danara;
- Salvi, Fabrizio;
- Bartoletti-Stella, Anna;
- Capellari, Sabina;
- Liguori, Rocco;
- Carelli, Valerio
Publication type:
Article
Myoclonus in mitochondrial disorders.
Published in:
Movement Disorders, 2014, v. 29, n. 6, p. 722, doi. 10.1002/mds.25839
By:
- Mancuso, Michelangelo;
- Orsucci, Daniele;
- Angelini, Corrado;
- Bertini, Enrico;
- Catteruccia, Michela;
- Pegoraro, Elena;
- Carelli, Valerio;
- Valentino, Maria L.;
- Comi, Giacomo P.;
- Minetti, Carlo;
- Bruno, Claudio;
- Moggio, Maurizio;
- Ienco, Elena Caldarazzo;
- Mongini, Tiziana;
- Vercelli, Liliana;
- Primiano, Guido;
- Servidei, Serenella;
- Tonin, Paola;
- Scarpelli, Mauro;
- Toscano, Antonio
Publication type:
Article

Found: 7

High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.

A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck.

Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?

Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?

Myoclonus in mitochondrial disorders.