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Page 1
The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Di Feo MF, Paramonov I, Matalonga Borrel L, Töpf A, Hoischen A, Beltran S, Graessner H, Vissers L, de Voer R, van Gijn M, Balestrini S, Lerche H, Lesca G, Gayathri SN, Ellwanger K, Cossee M, Perrin A, Sarkozy A, Bonne G, Verdonschot JAJ, Demidov G, Laurie S, Johari M; Solve-RD consortium; Hackman P, Savarese M, Udd B. Di Feo MF, et al. Genet Med. 2026 Jun;28(6):101649. doi: 10.1016/j.gim.2025.101649. Epub 2025 Nov 20. Genet Med. 2026. PMID: 41277541 Free article.
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.
Westenberger A, Verdura E, Radefeldt M, Sanderson LE, Tripolszki K, Marcé-Grau A, Cazurro-Gutiérrez A, Nikoncuk A, Herzog R, Al-Ali R, Ferreira M, Almeida LS, Silveira TRD, Khan S, Maia RD, Klivényi P, Salamon A, Baltaci V, Subasioglu A, Prada-Arismendy J, Čuturilo G, Loens S, Tadic V, Maystadt I, Karadurmus D, Leube B, De Winter J, Monticelli A, De Waele L, Baets J, Vinkšel M, Maver A, Tschopp L, Ziegler G, Sanguinetti A, Lohmann K, Barakat TS, Bauer P, Perez-Dueñas B, Bertoli-Avella AM. Westenberger A, et al. Among authors: cazurro gutierrez a. Mov Disord. 2026 Jan;41(1):84-94. doi: 10.1002/mds.70089. Epub 2025 Nov 7. Mov Disord. 2026. PMID: 41200738 Free PMC article.
Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.
Salazar-Villacorta A, Cazurro-Gutiérrez A, Dougherty-de Miguel L, Ferrero-Turrión J, Marcé-Grau A, Folch-Benito M, Lucero-Garófano Á, Macaya A, Moreno-Galdó A, Vanegas MI, Correa-Vela M, González MV, Español-Martín G, Loredo M, Delgado I, Toro-Tamargo E, Figueroa M, Vilas D, Tardáguila M, Muñoz J, Ispierto L, Álvarez R, Bescós A, Pérez-Dueñas B. Salazar-Villacorta A, et al. Among authors: cazurro gutierrez a. Mov Disord. 2025 Oct;40(10):2234-2242. doi: 10.1002/mds.30309. Epub 2025 Aug 1. Mov Disord. 2025. PMID: 40878948 Free PMC article.
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
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. Hildonen M, et al. Among authors: cazurro gutierrez a. Eur J Hum Genet. 2025 Jul;33(7):896-903. doi: 10.1038/s41431-025-01876-z. Epub 2025 May 23. Eur J Hum Genet. 2025. PMID: 40410387 Free PMC article.
Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.
Vanegas MI, Marcé-Grau A, Cazurro-Gutiérrez A, Hamami F, Timmers ER, Weißbach A, Tijssen MAJ, González V, Miguel LD, Martin M, Benson M, Reinhard C, Pérez-Dueñas B. Vanegas MI, et al. Among authors: cazurro gutierrez a. Mov Disord Clin Pract. 2025 Jul;12(7):957-968. doi: 10.1002/mdc3.70028. Epub 2025 Mar 15. Mov Disord Clin Pract. 2025. PMID: 40088059 Free PMC article.
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Shen Y, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Abou Jamra R, Gabriel H, Rentas S, Rippert AL, Gray C, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Eker HK, Pehlivan D, Posey JE, Lippa NC, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid MS, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Perez-Duenas B, Cazurro-Gutierrez A, Verdura E, Cantarin-Extremera V, Marques ADV, Helwak A, Tollervey D, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J. Dharmadhikari AV, et al. Among authors: cazurro gutierrez a. Nat Commun. 2025 Feb 17;16(1):1703. doi: 10.1038/s41467-025-56876-w. Nat Commun. 2025. PMID: 39962046 Free PMC article.
Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes.
De Francesch V, Cazurro-Gutiérrez A, Timmers ER, Español-Martín G, Ferrero-Turrión J, Gómez-Andrés D, Marcé-Grau A, Dougherty-de Miguel L, González V, Moreno-Galdó A, Tijssen MAJ, Pérez-Dueñas B. De Francesch V, et al. Among authors: cazurro gutierrez a. Dev Med Child Neurol. 2025 Jun;67(6):e104-e114. doi: 10.1111/dmcn.16215. Epub 2025 Jan 31. Dev Med Child Neurol. 2025. PMID: 39888844 Free article.
Natural history of SGCE-associated myoclonus dystonia in children and adolescents.
De Francesch V, Cazurro-Gutiérrez A, Timmers ER, Español-Martín G, Ferrero-Turrión J, Gómez-Andrés D, Marcé-Grau A, Dougherty-de Miguel L, González V, Moreno-Galdó A, Tijssen MAJ, Pérez-Dueñas B. De Francesch V, et al. Among authors: cazurro gutierrez a. Dev Med Child Neurol. 2025 Jun;67(6):740-749. doi: 10.1111/dmcn.16214. Epub 2024 Dec 16. Dev Med Child Neurol. 2025. PMID: 39679832 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
18 results