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28 results
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Analysis of the functional capacity outcome measures for myotonic dystrophy.
Jimenez-Moreno AC, Nikolenko N, Kierkegaard M, Blain AP, Newman J, Massey C, Moat D, Sodhi J, Atalaia A, Gorman GS, Turner C, Lochmüller H. Jimenez-Moreno AC, et al. Among authors: atalaia a. Ann Clin Transl Neurol. 2019 Aug;6(8):1487-1497. doi: 10.1002/acn3.50845. Epub 2019 Jul 22. Ann Clin Transl Neurol. 2019. PMID: 31402614 Free PMC article.
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Reinhard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G. Atalaia A, et al. Orphanet J Rare Dis. 2020 Aug 12;15(1):206. doi: 10.1186/s13023-020-01493-7. Orphanet J Rare Dis. 2020. PMID: 32787960 Free PMC article.
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Reinhard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G. Atalaia A, et al. Orphanet J Rare Dis. 2021 Mar 22;16(1):145. doi: 10.1186/s13023-021-01777-6. Orphanet J Rare Dis. 2021. PMID: 33752678 Free PMC article. No abstract available.
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075208 Free PMC article.
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1459-1461. doi: 10.1038/s41431-021-00936-4. Eur J Hum Genet. 2021. PMID: 34385672 Free PMC article. No abstract available.
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortium. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. doi: 10.1038/s41431-021-00934-6. Eur J Hum Genet. 2021. PMID: 34393220 Free PMC article. No abstract available.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Preclinical Advances of Therapies for Laminopathies.
Benarroch L, Cohen E, Atalaia A, Ben Yaou R, Bonne G, Bertrand AT. Benarroch L, et al. Among authors: atalaia a. J Clin Med. 2021 Oct 21;10(21):4834. doi: 10.3390/jcm10214834. J Clin Med. 2021. PMID: 34768351 Free PMC article. Review.
28 results