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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. Among authors: desaphy jf. 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.
How do gravity alterations affect animal and human systems at a cellular/tissue level?
Cialdai F, Brown AM, Baumann CW, Angeloni D, Baatout S, Benchoua A, Bereiter-Hahn J, Bottai D, Buchheim JI, Calvaruso M, Carnero-Diaz E, Castiglioni S, Cavalieri D, Ceccarelli G, Choukér A, Ciofani G, Coppola G, Cusella G, Degl'Innocenti A, Desaphy JF, Frippiat JP, Gelinsky M, Genchi G, Grano M, Grimm D, Guignandon A, Hahn C, Hatton J, Herranz R, Hellweg CE, Iorio CS, Karapantsios T, van Loon J, Lulli M, Maier J, Malda J, Mamaca E, Morbidelli L, van Ombergen A, Osterman A, Ovsianikov A, Pampaloni F, Pavezlorie E, Pereda-Campos V, Przybyla C, Puhl C, Rettberg P, Risaliti C, Rizzo AM, Robson-Brown K, Rossi L, Russo G, Salvetti A, Santucci D, Sperl M, Strollo F, Tabury K, Tavella S, Thielemann C, Willaert R, Szewczyk NJ, Monici M. Cialdai F, et al. Among authors: desaphy jf. NPJ Microgravity. 2023 Oct 21;9(1):84. doi: 10.1038/s41526-023-00330-y. NPJ Microgravity. 2023. PMID: 37865644 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. Among authors: desaphy jf. 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.
ClC-1 chloride channels: state-of-the-art research and future challenges.
Imbrici P, Altamura C, Pessia M, Mantegazza R, Desaphy JF, Camerino DC. Imbrici P, et al. Among authors: desaphy jf. Front Cell Neurosci. 2015 Apr 27;9:156. doi: 10.3389/fncel.2015.00156. eCollection 2015. Front Cell Neurosci. 2015. PMID: 25964741 Free PMC article. Review.
Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
Imbrici P, Altamura C, Camerino GM, Mangiatordi GF, Conte E, Maggi L, Brugnoni R, Musaraj K, Caloiero R, Alberga D, Marsano RM, Ricci G, Siciliano G, Nicolotti O, Mora M, Bernasconi P, Desaphy JF, Mantegazza R, Camerino DC. Imbrici P, et al. Among authors: desaphy jf. FASEB J. 2016 Oct;30(10):3285-3295. doi: 10.1096/fj.201500079R. Epub 2016 Jun 20. FASEB J. 2016. PMID: 27324117 Free PMC article.
Toward precision medicine in myotonic syndromes.
De Bellis M, Camerino DC, Desaphy JF. De Bellis M, et al. Among authors: desaphy jf. Oncotarget. 2017 Feb 28;8(9):14279-14280. doi: 10.18632/oncotarget.15263. Oncotarget. 2017. PMID: 28199958 Free PMC article. No abstract available.
127 results