Search Results - "Quinzii, C.M."

P17.19 Deoxypyrimidine monophosphates treatment for thymidine kinase 2 deficiency by Garone, C, Garcia-Diaz, B, Emmanuele, V, Tadesse, S, Akman, H.O, Tanji, K, Quinzii, C.M, Hirano, M

“…Autosomal recessive TK2 mutations have been associated with severe depletion of mitochondrial DNA (mtDNA) and devastating neuromuscular diseases in infants and…”
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P.5.19 Fhl1 W122S knock-in mice manifest late-onset mild myopathy by Emmanuele, V, Kubota, A, Garcia-Diaz, B, Garone, C, Akman, H.O, Tanji, K, Quinzii, C.M, Hirano, M

“…FHL1 is a member of the four-and-a half-LIM (FHL) domain protein family and it is highly expressed in adult human skeletal muscle. It is believed to…”
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O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder by Kornblum, C, Nicholls, T, Haack, T.B, Schoeler, S, Peeva, V, Danhauser, K, Hallmann, K, Zsurka, G, Rorbach, J, Iuso, A, Wieland, T, Sciacco, M, Ronchi, D, Comi, G.P, Moggio, M, Quinzii, C.M, DiMauro, S, Calvo, S.E, Mootha, V.K, Klopstock, T, Strom, T.M, Meitinger, T, Minczuk, M, Kunz, W.S, Prokisch, H

“…Mutations in genes involved in mitochondrial DNA (mtDNA) replication result in two molecular phenotypes of mitochondrial disorders, multiple mtDNA deletion…”
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Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3 by Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.

“…Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the…”
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Cerebellar ataxia and severe muscle CoQ 10 deficiency in a patient with a novel mutation in ADCK3 by Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.

“…Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the…”
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ARCA2 : une nouvelle ataxie cérébelleuse autosomique récessive liée à des mutations du gène ADCK3 by Anheim, M., Lagier-Tourenne, C., Tazir, M., Lopez, L.C., Quinzii, C.M., Drouot, N., Assoum, M., Makri, S., Ali-Pacha, L., Lynch, D., Mandel, J.L., Hirano, M., Tranchant, C., Koenig, M.

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