Suchergebnisse - "Carelli, Valerio"

PubPharm (593)

1

Two more families supporting the existence of monogenic spinocerebellar ataxia 48

enthalten in: Neurogenetics | 2024

von Palombo, F. | Vaisfeld, A. | Tropeano, V. | +8

2

Application of a Deep Learning System to Detect Papilledema on Nonmydriatic Ocular Fundus Photographs in an Emergency Department

enthalten in: American journal of ophthalmology | 2024

von Biousse, V. | Najjar, R. | Tang, Z. | +83

3

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

4

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates

enthalten in: NPJ genomic medicine | 2024

von Viggiano, M. | Ceroni, F. | Visconti, P. | +14

UpdateOf: Res Sq. 2023 Oct 28;:. - PMID 37961520

5

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy : The LEROS nonrandomized controlled trial

enthalten in: Cell reports. Medicine | 2024

von Yu-Wai-Man, P. | Carelli, V. | Newman, N. | +30

6

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

7

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

enthalten in: American journal of human genetics | 2024

von Brugger, M. | Lauri, A. | Zhen, Y. | +37

8

Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy : New Paradigm

enthalten in: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society | 2024

von Barboni, P. | Battista, M. | Brotto, L. | +8

9

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

10

The BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) deep learning system can accurately identify pediatric papilledema on standard ocular fundus photographs

enthalten in: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus | 2024

von Lin, M. | Najjar, R. | Tang, Z. | +85

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