MARTINEZ POPPLE, MARINA
MARTINEZ POPPLE, MARINA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA -Related Disorder/ Mitochondrial Trifunctional Protein Defect
2025-01-01 Balletto, Giulia; Barbagallo, Giulia; Cataldi, Matteo; Germano, Francesco; Traverso, Monica; Leuzzi, Deborah; Martinez Popple, Marina; Geroldi, Alessandro; Gotta, Fabio; Bellone, Emilia; Scala, Marcello; Zara, Federico; Nobili, Lino; Fiorillo, Chiara
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome
2023-01-01 Luísa Cabrita Pinto, Rute; Viaggi, Silvia; Canale, Edoardo; MARTINEZ POPPLE, Marina; Capra, Valeria; Conteduca, Giuseppina; Testa, Barbara; Coviello, Domenico; Elvira Covone, Angela
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA -Related Disorder/ Mitochondrial Trifunctional Protein Defect | 1-gen-2025 | Balletto, Giulia; Barbagallo, Giulia; Cataldi, Matteo; Germano, Francesco; Traverso, Monica; Leuzzi, Deborah; Martinez Popple, Marina; Geroldi, Alessandro; Gotta, Fabio; Bellone, Emilia; Scala, Marcello; Zara, Federico; Nobili, Lino; Fiorillo, Chiara | |
| Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome | 1-gen-2023 | Luísa Cabrita Pinto, Rute; Viaggi, Silvia; Canale, Edoardo; MARTINEZ POPPLE, Marina; Capra, Valeria; Conteduca, Giuseppina; Testa, Barbara; Coviello, Domenico; Elvira Covone, Angela |