Suchergebnisse - "Lamperti, Costanza"

PubPharm (220)

1

Management of seizures in patients with primary mitochondrial diseases : consensus statement from the InterERNs Mitochondrial Working Group

enthalten in: European journal of neurology | 2024

von Mancuso, M. | Papadopoulou, M. | Ng, Y. | +22

2

Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants : m.14484 T>C and m.10680G>A

enthalten in: Stem cell research | 2024

von Peron, C. | Cavaliere, A. | Fasano, C. | +10

3

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

enthalten in: Brain : a journal of neurology | 2024

von Blickhäuser, B. | Stenton, S. | Neuhofer, C. | +21

4

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

enthalten in: Cell reports. Medicine | 2024

von Aleo, S. | Del Dotto, V. | Romagnoli, M. | +39

5

Current management of primary mitochondrial disorders in EU countries : the European Reference Networks survey

enthalten in: Journal of neurology | 2024

von Mancuso, M. | Lopriore, P. | Lamperti, C. | +11

6

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

enthalten in: bioRxiv.org | 2023

von Stenton, S. | Shimura, M. | Piekutowska-Abramczuk, D. | +65

7

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

enthalten in: bioRxiv.org | 2023

von Yépez, V. | Gusic, M. | Kopajtich, R. | +50

8

Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey

enthalten in: Journal of neurology | 2023

von Mancuso, M. | Lopriore, P. | Lamperti, C. | +11

9

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects

enthalten in: International journal of molecular sciences | 2023

von Baglivo, M. | Nasca, A. | Lamantea, E. | +7

10

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy : The MMPOWER-3 Randomized Clinical Trial

enthalten in: Neurology | 2023

von Karaa, A. | Bertini, E. | Carelli, V. | +61

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