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

Year Number of Results
1949 1
1960 1
1961 1
1967 1
1968 1
1971 1
1974 2
1977 1
1979 2
1982 2
1984 1
1985 1
1987 1
1988 1
1989 3
1990 3
1991 1
1992 6
1993 8
1994 8
1995 9
1996 4
1997 5
1998 9
1999 6
2000 11
2001 7
2002 11
2003 8
2004 11
2005 13
2006 13
2007 19
2008 24
2009 15
2010 17
2011 26
2012 24
2013 22
2014 33
2015 32
2016 34
2017 48
2018 39
2019 46
2020 42
2021 47
2022 44
2023 20

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Search Results

597 results

Results by year

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Page 1
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.
Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR. Day JW, et al. Among authors: pena ldm. Lancet Neurol. 2021 Apr;20(4):284-293. doi: 10.1016/S1474-4422(21)00001-6. Epub 2021 Mar 17. Lancet Neurol. 2021. PMID: 33743238 Clinical Trial.
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Among authors: pena ldm. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
GDF15 mediates the metabolic effects of PPARβ/δ by activating AMPK.
Aguilar-Recarte D, Barroso E, Gumà A, Pizarro-Delgado J, Peña L, Ruart M, Palomer X, Wahli W, Vázquez-Carrera M. Aguilar-Recarte D, et al. Among authors: pena l. Cell Rep. 2021 Aug 10;36(6):109501. doi: 10.1016/j.celrep.2021.109501. Cell Rep. 2021. PMID: 34380027 Free article.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: pena l. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Classification and grading of canine mammary tumors.
Goldschmidt M, Peña L, Rasotto R, Zappulli V. Goldschmidt M, et al. Among authors: pena l. Vet Pathol. 2011 Jan;48(1):117-31. doi: 10.1177/0300985810393258. Vet Pathol. 2011. PMID: 21266722
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
Dimachkie MM, Barohn RJ, Byrne B, Goker-Alpan O, Kishnani PS, Ladha S, Laforêt P, Mengel KE, Peña LDM, Sacconi S, Straub V, Trivedi J, Van Damme P, van der Ploeg AT, Vissing J, Young P, Haack KA, Foster M, Gilbert JM, Miossec P, Vitse O, Zhou T, Schoser B; NEO-EXT investigators. Dimachkie MM, et al. Among authors: pena ldm. Neurology. 2022 May 26;99(5):e536-48. doi: 10.1212/WNL.0000000000200746. Online ahead of print. Neurology. 2022. PMID: 35618441 Free PMC article.
597 results