Fiche personne


Territoire

Lorraine

Statut

Hospitalo-Universitaire

Publications


Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.

Theuriet J, Paulet L, Acket B, Ory-Magne F, Belbachir H, Chanson JB, Bouhour F, Laurencin C, Froment Tilikete C, Lardeux P, Clement G, Hocquel A, Renaud M, Bonnet C, Marelli C, Weber S, Comet C, Azulay JP, Fluchère F, Coarelli G, Heinzmann A, Ewenczyk C, Verny C, Guillet-Pichon V, Guyant-Marechal L, Desjardins C, Riou A, Degos B, Mercier S, Goizet C, Degoutin M, Angelini C, Laurens B, Degardin A, Carrière N, Le Guyader G, Schneider V, Dupont G, Thomas Q, Merindol M, Besse-Pinot E, Méneret A, Roze E, Durr A, Thobois S, Anheim M, Wirth T, Pegat A

Eur J Neurol. 2025 07;32(7):e70247

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.

Kasper E, Boulouard F, Basset N, Golmard L, Sassi H, Bouvignies E, Branchaud M, Charbonnier C, Parodi N, Rolain M, Albuisson J, Al Saati A, Benusiglio P, Berthet P, Bidart M, Bonnet C, Bouras A, Boutry-Kryza N, Brayotel F, Bubien V, Buisson A, Castéra L, Caron O, Colas C, Coulet F, Delnatte C, Derangère V, Fievet A, Garrec C, Gauthier-Villars M, Gay-Bellile M, Goussot V, le Gall J, Lepage M, Lokchine A, Perrier A, Rouleau E, Sevenet N, Stoppa-Lyonnet D, Ravel JM, Perre PV, Vaur D, Vilquin P, Bougeard G, Baert-Desurmont S, Thery JC, Houdayer C

Int J Cancer. 2025 06 11;:

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.

Chelban V, Pellerin D, Vijiaratnam N, Lee H, Goh YY, Brown L, Sambin S, Seilhean D, Lehericy S, Iruzubieta P, Mohammad R, Self E, Scardamaglia A, Lee C, Ostrozovicova M, Dicaire MJ, Girges C, Gustavsson EK, Murphy D, Curless T, Laβ J, Trinh J, Rittman T, Rowe JB, Hadjivassiliou M, Archibald N, Danzi MC, Ashton C, Roth V, Wandzel M, Cheung WA, Gveric DO, De Vil B, Follett J, Leigh PN, Beichert L, Pastinen T, Bonnet C, Renaud M, Meissner WG, Sieben A, Crosiers D, Cras P, Zuchner S, Corvol JC, Farrer MJ, Synofzik M, Brais B, Warner T, Morris HR, Jaunmuktane Z, Foltynie T, Houlden H

Brain. 2025 04 16;:

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