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

Year Number of Results
1955 1
1958 1
1960 1
1962 1
1964 1
1965 2
1970 1
1977 1
1978 1
1979 5
1981 3
1982 1
1984 1
1986 1
1987 1
1988 3
1989 2
1990 2
1992 4
1993 3
1994 4
1995 5
1996 9
1997 15
1998 19
1999 19
2000 30
2001 23
2002 27
2003 27
2004 26
2005 32
2006 34
2007 47
2008 49
2009 38
2010 56
2011 44
2012 58
2013 58
2014 84
2015 70
2016 65
2017 63
2018 69
2019 76
2020 90
2021 93
2022 77
2023 93
2024 98
2025 67

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1,417 results

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Page 1
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: d amico a. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Brain. 2020. PMID: 32875335
Missense variants in TUBA4A cause myo-tubulinopathies.
Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, Gardeitchik T, Kamsteeg EJ, Medici E, Kaat LD, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Genetti CA, Valivullah ZM, Milic V, Kovacevic G, Kosac A, Moreno CAM, Camelo CG, Zanoteli E, Fahey MC, Beggs AH, Vissing J, Straub V, Savarese M, Tasca G, Voermans N, Laing NG, Udd B, Nishino I, Ravenscroft G. Johari M, et al. Among authors: d amico a. medRxiv [Preprint]. 2025 Jun 28:2025.06.26.25330266. doi: 10.1101/2025.06.26.25330266. medRxiv. 2025. PMID: 40666348 Free PMC article. Preprint.
Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy.
Hassan A, di Vito R, Nuzzo T, Vidali M, Carlini MJ, Yadav S, Yang H, D'Amico A, Kolici X, Valsecchi V, Panicucci C, Pignataro G, Bruno C, Bertini E, Errico F, Pellizzoni L, Usiello A. Hassan A, et al. Among authors: d amico a. Neurobiol Dis. 2025 Apr;207:106849. doi: 10.1016/j.nbd.2025.106849. Epub 2025 Feb 24. Neurobiol Dis. 2025. PMID: 40010612 Free PMC article.
Hydranencephaly in CENPJ-related Seckel syndrome.
Cuccurullo C, Miele G, Piccolo G, Bilo L, Accogli A, D'Amico A, Fratta M, Guerrisi S, Iacomino M, Salpietro V, Ugga L, Striano P, Coppola A. Cuccurullo C, et al. Among authors: d amico a. Eur J Med Genet. 2022 Dec;65(12):104659. doi: 10.1016/j.ejmg.2022.104659. Epub 2022 Nov 2. Eur J Med Genet. 2022. PMID: 36334884
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.
Panicucci C, Sahin E, Bartolucci M, Casalini S, Brolatti N, Pedemonte M, Baratto S, Pintus S, Principi E, D'Amico A, Pane M, Sframeli M, Messina S, Albamonte E, Sansone VA, Mercuri E, Bertini E, Sezerman U, Petretto A, Bruno C. Panicucci C, et al. Among authors: d amico a. Cell Mol Life Sci. 2024 Sep 10;81(1):393. doi: 10.1007/s00018-024-05426-6. Cell Mol Life Sci. 2024. PMID: 39254732 Free PMC article.
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.
Coratti G, Civitello M, Rohwer A, Albamonte E, Montes J, Glanzman AM, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Salmin F, Day J, Baranello G, Pera MC, Muntoni F, Finkel RS, Mercuri E; International SMA Consortium (iSMAc). Coratti G, et al. Among authors: d amico a. Neuromuscul Disord. 2024 Nov;44:104449. doi: 10.1016/j.nmd.2024.08.006. Epub 2024 Aug 28. Neuromuscul Disord. 2024. PMID: 39299818 Free article.
ACR Appropriateness Criteria high-dose-rate brachytherapy for prostate cancer.
Hsu IC, Yamada Y, Assimos DG, D'Amico AV, Davis BJ, Frank SJ, Gottschalk AR, Gustafson GS, McLaughlin PW, Nguyen PL, Rosenthal SA, Taira AV, Vapiwala N, Merrick G. Hsu IC, et al. Among authors: d amico av. Brachytherapy. 2014 Jan-Feb;13(1):27-31. doi: 10.1016/j.brachy.2013.11.007. Epub 2013 Dec 22. Brachytherapy. 2014. PMID: 24368283 Review.
Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.
Pasternak A, McDermott MP, Montes J, Glanzman AM, Coratti G, Dunaway Young S, Duong TT, Martens WB, Day JW, Zolkipli-Cunningham Z, Sansone VA, D'Amico A, Messina S, Bruno C, Mercuri E, De Vivo DC, Darras BT; as the Pediatric Neuromuscular Clinical Research (PNCR) Network and the International SMA Consortium (iSMAc). Pasternak A, et al. Among authors: d amico a. Neurology. 2025 Jul 22;105(2):e213839. doi: 10.1212/WNL.0000000000213839. Epub 2025 Jun 27. Neurology. 2025. PMID: 40577678
Risk-based management of prostate cancer.
D'Amico AV. D'Amico AV. N Engl J Med. 2011 Jul 14;365(2):169-71. doi: 10.1056/NEJMe1103829. N Engl J Med. 2011. PMID: 21751910 No abstract available.
Italian validation of the SMA independence scale-upper limb module.
Bravetti C, Coratti G, Pera MC, Gadaleta G, Mongini T, Coccia M, Ferrero A, Costantini EM, Longo A, Cumbo F, Catteruccia M, D'Amico A, Morando S, Brolatti N, Bruno C, Verriello L, Pessa ME, Antonaci L, Faini C, Liguori R, Vacchiano V, Ruggiero L, Zoppi D, Russo A, Torri F, Ricci G, Chiappini R, Siciliano G, Trabacca A, Agosto C, Benedetti F, Pane M, Mercuri E; ITASMAC working group. Bravetti C, et al. Among authors: d amico a. Eur J Pediatr. 2025 Jun 10;184(7):410. doi: 10.1007/s00431-025-06207-4. Eur J Pediatr. 2025. PMID: 40490594 Free PMC article.
1,417 results