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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
Montaut S, Diedhiou N, Fahrer P, Marelli C, Lhermitte B, Robelin L, Vincent MC, Corti L, Taieb G, Gebus O, Rudolf G, Tarabeux J, Dondaine N, Canuet M, Almeras M, Benkirane M, Larrieu L, Chanson JB, Nadaj-Pakleza A, Echaniz-Laguna A, Cauquil C, Lannes B, Chelly J, Anheim M, Puccio H, Tranchant C
J Neurol March 5, 2021
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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M
Neurology March 2, 2021
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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
Ann Neurol Aug 2020
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High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.
Belbellaa B, Reutenauer L, Messaddeq N, Monassier L, Puccio H
Mol Ther Methods Clin Dev Dec. 11, 2020
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Primary Cultures of Pure Embryonic Dorsal Root Ganglia Sensory Neurons as a New Cellular Model for Friedreich's Ataxia.
Griso O(1)(2)(3)(4), Puccio H(5)(6)(7)(8).
Methods Mol Biol 2020
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Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.
Synofzik M(1), Puccio H(2), Mochel F(3), Schols L(4).
Neuron Feb. 20, 2019
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Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
Belbellaa B(1)(2)(3)(4), Reutenauer L(1)(2)(3)(4), Monassier L(5), Puccio H(1)(2)(3)(4).
Hum Mol Genet April 15, 2019
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Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
Piguet F, de Montigny C, Vaucamps N, Reutenauer L, Eisenmann A, Puccio H
Mol Ther Aug. 1, 2018
