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

Year Number of Results
1979 1
1980 4
1982 6
1985 3
1986 1
1987 1
1988 4
1989 1
1990 2
1996 1
1997 1
1998 1
2000 2
2001 1
2003 1
2006 3
2007 5
2008 5
2009 2
2010 7
2011 3
2012 11
2013 7
2014 3
2015 5
2016 8
2017 10
2018 7
2019 6
2020 6
2021 6
2022 10
2023 7
2024 3

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130 results

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Page 1
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Parikh S, et al. Among authors: saneto rp. Genet Med. 2017 Dec;19(12):10.1038/gim.2017.107. doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Genet Med. 2017. PMID: 28749475 Free PMC article. Review.
Early-Life Epilepsies.
Akiyama LF, Saneto RP. Akiyama LF, et al. Among authors: saneto rp. Pediatr Ann. 2023 Oct;52(10):e381-e387. doi: 10.3928/19382359-20230829-01. Epub 2023 Oct 1. Pediatr Ann. 2023. PMID: 37820708 Review.
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Among authors: saneto rp. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O; Marigold Trial Group. Knight EMP, et al. Lancet Neurol. 2022 May;21(5):417-427. doi: 10.1016/S1474-4422(22)00077-1. Lancet Neurol. 2022. PMID: 35429480 Clinical Trial.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: saneto rp. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.
Alpers-Huttenlocher syndrome.
Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Saneto RP, et al. Pediatr Neurol. 2013 Mar;48(3):167-78. doi: 10.1016/j.pediatrneurol.2012.09.014. Pediatr Neurol. 2013. PMID: 23419467 Free PMC article. Review.
Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial.
Miller I, Scheffer IE, Gunning B, Sanchez-Carpintero R, Gil-Nagel A, Perry MS, Saneto RP, Checketts D, Dunayevich E, Knappertz V; GWPCARE2 Study Group. Miller I, et al. Among authors: saneto rp. JAMA Neurol. 2020 May 1;77(5):613-621. doi: 10.1001/jamaneurol.2020.0073. JAMA Neurol. 2020. PMID: 32119035 Free PMC article. Clinical Trial.
130 results