A case for the use of chemotherapy in hereditary mitochondrial optic neuropathies: Successful administration of cisplatin/etoposide in a male patient with testicular seminoma and Leber's hereditary optic neuropathy.

Autor: Vrisakis, Jean‐Luc¹ (AUTHOR) jeanluc.vrisakis@health.nsw.gov.au, Fraser, Clare L.^2,3 (AUTHOR), Shahnam, Adel⁴ (AUTHOR), Nindra, Udit⁵ (AUTHOR), Grimison, Peter^6,7 (AUTHOR)

Publikováno v: Clinical Case Reports. Jul2024, Vol. 12 Issue 7, p1-5. 5p.

Mitochondrial Heteroplasmy as a Marker for Premature Coronary Artery Disease: Analysis of the Poly-C Tract of the Control Region Sequence.

Autor: Lorca, Rebeca^1,2,3,4,5 (AUTHOR), Aparicio, Andrea¹ (AUTHOR), Gómez, Juan^2,4,5,6,7 (AUTHOR) juan.gomezde@sespa.es, Álvarez-Velasco, Rut^1,2 (AUTHOR), Pascual, Isaac^1,2,8 (AUTHOR), Avanzas, Pablo^1,2,8,9 (AUTHOR), González-Urbistondo, Francisco¹ (AUTHOR), Alen, Alberto¹ (AUTHOR), Vázquez-Coto, Daniel⁷ (AUTHOR), González-Fernández, Mar⁷ (AUTHOR), García-Lago, Claudia⁷ (AUTHOR), Cuesta-Llavona, Elías^2,7 (AUTHOR), Morís, César^1,2,4,8 (AUTHOR), Coto, Eliecer^2,4,5,7,8 (AUTHOR)

Publikováno v: Journal of Clinical Medicine. Mar2023, Vol. 12 Issue 6, p2133. 10p.

Exploring gene therapy for inherited optic neuropathies: A look at what's in the therapeutic delivery pipeline for these disorders.

Autor: Chen, Benson S.^1,2 bsc33@cam.ac.uk, Harvey, Joshua P.³ joshua.harvey.20@ucl.ac.uk, Yu-Wai-Man, Patrick^2,4,5,6 py237@cam.ac.uk

Publikováno v: Ophthalmology Times Europe. Jan/Feb2023, Vol. 19 Issue 1, p29-33. 5p.

Peripapillary hyperreflective ovoid mass-like structures (PHOMS) in patients with acute Leber's hereditary optic neuropathy.

Autor: Borrelli, Enrico^1,2 (AUTHOR) borrelli.enrico@yahoo.com, Cascavilla, Maria Lucia^1,2 (AUTHOR), Lari, Giorgio^1,2 (AUTHOR), De Negri, Anna Maria³ (AUTHOR), Battista, Marco^1,2 (AUTHOR), Galzignato, Alice⁴ (AUTHOR), Coutinho, Catarina⁴ (AUTHOR), Berni, Alessandro^1,2 (AUTHOR), Barresi, Costanza^1,2 (AUTHOR), Ricciotti, Guido⁵ (AUTHOR), Bandello, Francesco^1,2 (AUTHOR), Barboni, Piero^1,2,4 (AUTHOR)

Publikováno v: Graefe's Archive of Clinical & Experimental Ophthalmology. Jan2024, Vol. 262 Issue 1, p261-265. 5p.

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.

Autor: Fiorini, Claudio¹ (AUTHOR), Ormanbekova, Danara¹ (AUTHOR), Palombo, Flavia¹ (AUTHOR), Carbonelli, Michele² (AUTHOR), Amore, Giulia² (AUTHOR), Romagnoli, Martina¹ (AUTHOR), d'Agati, Pietro¹ (AUTHOR), Valentino, Maria Lucia^1,2 (AUTHOR), Barboni, Piero³ (AUTHOR), Cascavilla, Maria Lucia³ (AUTHOR), Negri, Annamaria De⁴ (AUTHOR), Sadun, Federico⁵ (AUTHOR), Carta, Arturo⁶ (AUTHOR), Testa, Francesco⁷ (AUTHOR), Petruzzella, Vittoria⁸ (AUTHOR), Guerriero, Silvana⁸ (AUTHOR), Marzoli, Stefania Bianchi⁹ (AUTHOR), Carelli, Valerio^1,2 (AUTHOR) valerio.carelli@unibo.it, Morgia, Chiara La^1,2 (AUTHOR) chiara.lamorgia@unibo.it, Caporali, Leonardo¹ (AUTHOR) leonardo.caporali@isnb.it

Publikováno v: Brain: A Journal of Neurology. Sep2023, Vol. 146 Issue 9, pe67-e70. 4p.