Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.
Benkirane M, Marelli C, Choumert A, Goizet C, Patat O, Ewenczyk C, Anheim M, Mégarbané A, Larrieu L, Charlin C, Ory-Magne F, Chaussenot A, Fradin M, Guissart C, Pointaux M, Cossée M, Vincent MC, Bergougnoux A, Hersent C, Bareil C, Roubertie A, Fluchère F, Renaud M, Kremer L, Tranchant C, Attarian S, Odent S, Laugel V, Walther-Louvier U, Desnous B, Bieth E, Husson I, Azulay JP; INTREP-AF consortium; Rivier F, Doray B, Durr A, Aouinti S, Molinari N, Koenig M.
Benkirane M, et al. Among authors: husson i.
Genet Med. 2025 Sep 23;27(12):101588. doi: 10.1016/j.gim.2025.101588. Online ahead of print.
Genet Med. 2025.
PMID: 41014100