Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation von QUINZII, C. M, KATTAH, A. G, NAINI, A, AKMAN, H. O, MOOTHA, V. K, DIMAURO, S, HIRANO, M

Volltext

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3 von Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.

Volltext

Human CoQ10 deficiencies von Quinzii, C. M., López, L. C., Naini, A., DiMauro, S., Hirano, M.

Volltext

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 von Quinzii, Catarina M., Vu, Tuan H., Min, K. Christopher, Tanji, Kurenai, Barral, Sandra, Grewal, Raji P., Kattah, Andrea, Camaño, Pilir, Otaegui, David, Kunimatsu, Teruhito, Blake, David M., Wilhelmsen, Kirk C., Rowland, Lewis P., Hays, Arthur P., Bonilla, Eduardo, Hirano, Michio

Volltext

CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway von Kleiner, Giulio, Barca, Emanuele, Ziosi, Marcello, Emmanuele, Valentina, Xu, Yimeng, Hidalgo-Gutierrez, Agustin, Qiao, Changhong, Tadesse, Saba, Area-Gomez, Estela, Lopez, Luis C., Quinzii, Catarina M.

Volltext

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects von López, Luis C, Quinzii, Catarina M, Area, Estela, Naini, Ali, Rahman, Shamima, Schuelke, Markus, Salviati, Leonardo, Dimauro, Salvatore, Hirano, Michio

Volltext

Genetics of Primary CoQ10 Deficiency von Naini, A., Quinzii, C., Navas, P., DiMauro, S., Hirano, M.

Volltext

Cerebellar ataxia and severe muscle CoQ sub(10) deficiency in a patient with a novel mutation in ADCK3 von Barca, E, Musumeci, O, Montagnese, F, Marino, S, Granata, F, Nunnari, D, Peverelli, L, DiMauro, S, Quinzii, C M, Toscano, A

Volltext

Leigh Syndrome with Nephropathy and CoQ sub(10) Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations von Lopez, L C, Schuelke, M, Quinzii, C M, Kanki, T, Rodenburg, RJT, Naini, A, DiMauro, S, Hirano, M

Volltext

Human CoQ 10 deficiencies von Quinzii, C. M., López, L. C., Naini, A., DiMauro, S., Hirano, M.

Volltext

Human CoQ sub(10) deficiencies von Quinzii, C M, Lopez, L C, Naini, A, DiMauro, S, Hirano, M

Volltext

Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects von Lopez, LC, Quinzii, CM, Area, E, Naini, A, Rahman, S, Schuelke, M, Salviati, L, DiMauro, S, Hirano, M

Volltext bestellen

Abnormalities of hydrogen sulfide and glutathione pathways in mitochondrial dysfunction von Quinzii, Catarina M, Lopez, Luis C

Volltext

Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism von González-García, Pilar, Hidalgo-Gutiérrez, Agustín, Mascaraque, Cristina, Barriocanal-Casado, Eliana, Bakkali, Mohammed, Ziosi, Marcello, Abdihankyzy, Ussipbek Botagoz, Sánchez-Hernández, Sabina, Escames, Germaine, Prokisch, Holger, Martín, Francisco, Quinzii, Catarina M, López, Luis C

Volltext

Metabolic Targets of Coenzyme Q10 in Mitochondria von Hidalgo-Gutiérrez, Agustín, González-García, Pilar, Díaz-Casado, María Elena, Barriocanal-Casado, Eliana, López-Herrador, Sergio, Quinzii, Catarina M, López, Luis C

Volltext

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease von Duncan, Andrew J., Bitner-Glindzicz, Maria, Meunier, Brigitte, Costello, Harry, Hargreaves, Iain P., López, Luis C., Hirano, Michio, Quinzii, Catarina M., Sadowski, Michael I., Hardy, John, Singleton, Andrew, Clayton, Peter T., Rahman, Shamima

Volltext

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency von Garone, Caterina, Garcia‐Diaz, Beatriz, Emmanuele, Valentina, Lopez, Luis C, Tadesse, Saba, Akman, Hasan O, Tanji, Kurenai, Quinzii, Catarina M, Hirano, Michio

Volltext

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects von López, Luis C., Quinzii, Catarina M., Area, Estela, Naini, Ali, Rahman, Shamima, Schuelke, Markus, Salviati, Leonardo, DiMauro, Salvatore, Hirano, Michio

Volltext

The Role of Sulfide Oxidation Impairment in the Pathogenesis of Primary CoQ Deficiency von Quinzii, Catarina M, Luna-Sanchez, Marta, Ziosi, Marcello, Hidalgo-Gutierrez, Agustin, Kleiner, Giulio, Lopez, Luis C

Volltext

Is There Room for Liposomal Irinotecan in Biliary Tract Cancer? A Meta-analysis of Randomised Trials von Merz, V, Messina, C, Zecchetto, C, Quinzii, A, Frisinghelli, M, Trentin, C, Salati, M, Caffo, O, Melisi, D

Volltext