Pediatric Neurology

Kwon JM, Munell F, Le Goff L, Yuge K, Kato T, Cances C, De Waele L, Woodcock IR, Mercuri EM, Proud CM, Darras BT, Hayes LH, Oskoui M, Visootsak J, Williams G, Ilić A, Yang L, van der Pol WL
Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open- label trial
Nat Med. Epub 2025 Dec 8.
DOI: 10.1038/s41591-025-04119-2
IF: 50

Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA,Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortium; Brookes AJ, Evangelista T, Gilissen C, Graessner H, Hoogerbrugge N, Ossowski S, Riess O, Schüle R, Synofzik M, Verloes A, Matalonga L, Brunner HG, Lohmann K, de Voer RM, Töpf A, Vissers LELM, Beltran S, Hoischen A
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Nat Med. 2025 Feb;31(2):478-489.
DOI: 10.1038/s41591-024-03420-w
IF: 50

McDonald CM, Guglieri M, Vučinić D, Acsadi G, Brandsema JF, Bruno C, Finanger EL, Harper A, Lobato ML, Masson R, Muelas N, Munell F, Nevo Y, Péréon Y, Phan H, Sansone VA, Scoto M, Willis T, Finkel RS, Vandenborne K, Cazzaniga S, Montrasio S, Alessi F, Bettica P, Mercuri E; Givinostat Study 51 Investigators; Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS) Investigators; ImagingDMD Investigators. Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
Ann Clin Transl Neurol. 2025 Nov;12(11):2335-2348
DOI: 10.1002/acn3.70165
IF: 4.4

Hildonen M, Ciolfi A, Ferilli M, Cappelletti C, Al Alam C, Amor DJ, Barakat TS, Benoit V, Birk OS, Callewaert B, Cazurro-Gutiérrez A, De Wachter M, Doco- Fenzy M, Gómez-Puertas P, Hammer TB, Jamra RA, Kaiyrzhanov R, Kameyama S, Keren B, Kresge C, Krey I, Lederer D, Marcos-Alcalde I, Maroofian R, Matsumoto N, Mizuguchi T, Moey LH, Morgan A, Munell F, Platzer K, Pletcher BA, Ros-Pardo D, Rumping L, Szakszon K, Van Schil K, Verdura E, Vogt J, Wassmer E, Zamani M, Tümer Z, Tartaglia M
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci
Eur J Hum Genet. 2025 Jul;33(7):896-903
DOI: 10.1038/s41431-025-01876-z
IF: 5.2

Tucci F, Uria Oficialdegui ML, Consiglieri G, Cossutta M, Filisetti C, Fumagalli F, Butera C, Santangelo R, Colombo M, Manitto MP, Stoppani M, Martina E, Danè G, Camesasca C, Risca G, De Pellegrin M, Scarparo S, Sarzana M, Puricelli C, Galimberti S, Darin S, Silvani P, Bonanomi S, Gasperini S, Naldini L, Gentner B, Parini R, Del Toro M, Diaz-de-Heredia C, Aiuti A, Bernardo ME
Non-neurological, non-skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy (OTL-203) for Hurler syndrome
Mol Ther. 2026 Jan 7;34(1):443-454
DOI: 10.1016/j.ymthe.2025.09.042
IF: 20.1