Ngo A, Liu L, Larivière S, Kebets V, Fett S, Weber CF, Royer J, Yu E, Rodríguez-Cruces R, Zhang Z, Qi Rong Ooi L, Yeo BTT, Birgit Frauscher B, Paquola C, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda CL, Bonilha L, Gleichgerrcht E, Focke NK, Kotikalapudi R, O’Brien TJ, Sinclair B, Vivash L, Desmond PM, Lui E, Vaudano AE, Meletti S, Kälviäinen R, Soltanian-Zadeh H, Winston GP, Tiwari VK, Kreilkamp BAK, Lenge M, Guerrini R, Hamandi K, Rüber T, Bauer T, Devinsky O, Striano P, Kaestner E, Hatton SN, Caciagli L, Kirschner M, Duncan JS, Thompson PM, ENIGMA Consortium Epilepsy Working Group, McDonald CR, Sisodiya SM, Bernasconi N, Bernasconi A, Gan-Or Z and Bernhardt BC. Associations between epilepsy-related polygenic risk and brain morphology in childhood. Under review. Preprint, PubMed
Month: January 2025
Plasma pTau181 and amyloid markers predict conversion to dementia in idiopathic REM sleep behaviour disorder
Delva A, Pelletier A, Somerville E, Montplaisir J, Gagnon JF, Kollmorgen G, Kam-Thong T, Kustermann T, Machado V, Gan-Or Z, Postuma RB. Plasma pTau181 and amyloid markers predict conversion to dementia in idiopathic REM sleep behaviour disorder. Brain. 2025. Preprint, PubMed
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
Degoutin M, Angelini C, Bar C, El Khedoud WA, Barnerias C, Boulariah-Hadjou R, Estiar MA, Ewenczyk C, Gan-Or Z, Lacombe D, Lefeuvre C, Majethia P, Messaoud-Khelifi M, Narayanan DL, Rouleau GA, Suchowersky O, Shukla A, Guillaud-Bataille M, Stevanin G, Goizet C. From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants. Eur J Neurol. 2025. Preprint, PubMed
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
Laugwitz L, Buchert R, Olguín P, Estiar MA, Atanasova M, Jr WM, Enssle J, Marsden B, Avilés J, González-Gutiérrez A, Candia N, Fabiano M, Morlot S, Peralta S, Groh A, Schillinger C, Kuehn C, Sofan L, Sturm M, Bender B, Tomaselli PJ, Diebold U, Mueller AJ, Spranger S, Fuchs M, Freua F, Melo US, Mattas L, Ashtiani S, Suchowersky O, Groeschel S, Rouleau GA, Yosovich K, Michelson M, Leibovitz Z, Bilal M, Uctepe E, Yesilyurt A, Ozdogan O, Celik T, Krägeloh-Mann I, Riess O, Rosewich H, Umair M, Lev D, Zuchner S, Schweizer U, Lynch DS, Gan-Or Z, Haack TB. EEFSEC deficiency: A selenopathy with early-onset neurodegeneration. Am J Hum Genet. 2025. Preprint, PubMed