Puccio H - Search Results

1

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.

Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M. Traschütz A, et al. Among authors: puccio h. Ann Neurol. 2020 Aug;88(2):251-263. doi: 10.1002/ana.25751. Epub 2020 Jun 10. Ann Neurol. 2020. PMID: 32337771 Free PMC article.

2

Recent advances in the molecular pathogenesis of Friedreich ataxia.

Puccio H, Koenig M. Puccio H, et al. Hum Mol Genet. 2000 Apr 12;9(6):887-92. doi: 10.1093/hmg/9.6.887. Hum Mol Genet. 2000. PMID: 10767311 Review.

3

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.

Cossée M, Puccio H, Gansmuller A, Koutnikova H, Dierich A, LeMeur M, Fischbeck K, Dollé P, Koenig M. Cossée M, et al. Among authors: puccio h. Hum Mol Genet. 2000 May 1;9(8):1219-26. doi: 10.1093/hmg/9.8.1219. Hum Mol Genet. 2000. PMID: 10767347

4

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M. Puccio H, et al. Nat Genet. 2001 Feb;27(2):181-6. doi: 10.1038/84818. Nat Genet. 2001. PMID: 11175786

5

Friedreich ataxia: a paradigm for mitochondrial diseases.

Puccio H, Koenig M. Puccio H, et al. Curr Opin Genet Dev. 2002 Jun;12(3):272-7. doi: 10.1016/s0959-437x(02)00298-8. Curr Opin Genet Dev. 2002. PMID: 12076669 Review.

6

Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia.

Simon D, Seznec H, Gansmuller A, Carelle N, Weber P, Metzger D, Rustin P, Koenig M, Puccio H. Simon D, et al. Among authors: puccio h. J Neurosci. 2004 Feb 25;24(8):1987-95. doi: 10.1523/JNEUROSCI.4549-03.2004. J Neurosci. 2004. PMID: 14985441 Free PMC article.

7

Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.

Seznec H, Simon D, Monassier L, Criqui-Filipe P, Gansmuller A, Rustin P, Koenig M, Puccio H. Seznec H, et al. Among authors: puccio h. Hum Mol Genet. 2004 May 15;13(10):1017-24. doi: 10.1093/hmg/ddh114. Epub 2004 Mar 17. Hum Mol Genet. 2004. PMID: 15028670

8

Friedreich ataxia: the oxidative stress paradox.

Seznec H, Simon D, Bouton C, Reutenauer L, Hertzog A, Golik P, Procaccio V, Patel M, Drapier JC, Koenig M, Puccio H. Seznec H, et al. Among authors: puccio h. Hum Mol Genet. 2005 Feb 15;14(4):463-74. doi: 10.1093/hmg/ddi042. Epub 2004 Dec 22. Hum Mol Genet. 2005. PMID: 15615771

9

The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

Calmels N, Schmucker S, Wattenhofer-Donzé M, Martelli A, Vaucamps N, Reutenauer L, Messaddeq N, Bouton C, Koenig M, Puccio H. Calmels N, et al. Among authors: puccio h. PLoS One. 2009 Jul 24;4(7):e6379. doi: 10.1371/journal.pone.0006379. PLoS One. 2009. PMID: 19629184 Free PMC article.

10

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.

Calmels N, Seznec H, Villa P, Reutenauer L, Hibert M, Haiech J, Rustin P, Koenig M, Puccio H. Calmels N, et al. Among authors: puccio h. BMC Neurol. 2009 Aug 24;9:46. doi: 10.1186/1471-2377-9-46. BMC Neurol. 2009. PMID: 19703283 Free PMC article.

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