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

Year Number of Results
1970 1
1972 1
1982 1
1984 1
1985 3
1986 1
1987 1
1989 1
1991 3
1994 2
1995 2
1996 5
1997 3
1998 9
1999 7
2000 5
2002 4
2003 1
2004 4
2005 3
2006 2
2008 2
2009 1
2010 5
2011 3
2012 4
2013 6
2014 5
2015 1
2016 6
2017 4
2018 4
2019 9
2020 6
2021 10
2022 6
2023 7
2024 3

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131 results

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Page 1
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Finkel RS, et al. N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. N Engl J Med. 2017. PMID: 29091570 Free article. Clinical Trial.
Molecular logic of cellular diversification in the mouse cerebral cortex.
Di Bella DJ, Habibi E, Stickels RR, Scalia G, Brown J, Yadollahpour P, Yang SM, Abbate C, Biancalani T, Macosko EZ, Chen F, Regev A, Arlotta P. Di Bella DJ, et al. Nature. 2021 Jul;595(7868):554-559. doi: 10.1038/s41586-021-03670-5. Epub 2021 Jun 23. Nature. 2021. PMID: 34163074 Free PMC article.
Genetic dissection of the glutamatergic neuron system in cerebral cortex.
Matho KS, Huilgol D, Galbavy W, He M, Kim G, An X, Lu J, Wu P, Di Bella DJ, Shetty AS, Palaniswamy R, Hatfield J, Raudales R, Narasimhan A, Gamache E, Levine JM, Tucciarone J, Szelenyi E, Harris JA, Mitra PP, Osten P, Arlotta P, Huang ZJ. Matho KS, et al. Among authors: di bella dj. Nature. 2021 Oct;598(7879):182-187. doi: 10.1038/s41586-021-03955-9. Epub 2021 Oct 6. Nature. 2021. PMID: 34616069 Free PMC article.
Vitamin B5 and succinyl-CoA improve ineffective erythropoiesis in SF3B1-mutated myelodysplasia.
Mian SA, Philippe C, Maniati E, Protopapa P, Bergot T, Piganeau M, Nemkov T, Di Bella D, Morales V, Finch AJ, D'Alessandro A, Bianchi K, Wang J, Gallipoli P, Kordasti S, Kubasch AS, Cross M, Platzbecker U, Wiseman DH, Bonnet D, Bernard DG, Gribben JG, Rouault-Pierre K. Mian SA, et al. Among authors: di bella d. Sci Transl Med. 2023 Mar;15(685):eabn5135. doi: 10.1126/scitranslmed.abn5135. Epub 2023 Mar 1. Sci Transl Med. 2023. PMID: 36857430 Free PMC article.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: di bella d. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: di bella d. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI. Mendes MI, et al. Among authors: di bella d. Ann Clin Transl Neurol. 2020 Jan;7(1):83-93. doi: 10.1002/acn3.50960. Epub 2019 Dec 8. Ann Clin Transl Neurol. 2020. PMID: 31814314 Free PMC article.
131 results