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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2012 3
2013 4
2014 5
2015 7
2016 5
2017 6
2018 7
2019 4
2020 3
2021 8
2022 8
2023 5
2024 3

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61 results

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Page 1
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: astrea g. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM. Galatolo D, et al. Among authors: astrea g. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: astrea g. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
De novo GRIN2A variants associated with epilepsy and autism and literature review.
Mangano GD, Riva A, Fontana A, Salpietro V, Mangano GR, Nobile G, Orsini A, Iacomino M, Battini R, Astrea G, Striano P, Nardello R. Mangano GD, et al. Among authors: astrea g. Epilepsy Behav. 2022 Apr;129:108604. doi: 10.1016/j.yebeh.2022.108604. Epub 2022 Feb 23. Epilepsy Behav. 2022. PMID: 35217385 Review.
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Among authors: astrea g. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Dosi C, et al. Among authors: astrea g. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.
Case report: Episodic ataxia without ataxia?
Gaudio A, Gotta F, Ponti C, Sanguineri F, Trevisan L, Geroldi A, Patrone S, Gemelli C, Cabona C, Astrea G, Fiorillo C, Gustincich S, Grandis M, Mandich P. Gaudio A, et al. Among authors: astrea g. Front Neurol. 2023 Oct 26;14:1224241. doi: 10.3389/fneur.2023.1224241. eCollection 2023. Front Neurol. 2023. PMID: 37965175 Free PMC article.
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: astrea g. J Neuromuscul Dis. 2024;11(2):285-297. doi: 10.3233/JND-230129. J Neuromuscul Dis. 2024. PMID: 38363615 Free PMC article.
61 results