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

Year Number of Results
1948 1
1951 1
1964 2
1975 3
1976 9
1977 12
1978 10
1979 12
1980 6
1981 1
1982 1
1985 3
1986 1
1988 2
1989 1
1991 2
1992 1
1993 3
1994 6
1995 1
1996 3
1998 3
1999 1
2001 1
2002 2
2003 1
2005 3
2007 2
2008 4
2009 4
2010 1
2011 1
2013 2
2014 2
2015 3
2016 5
2017 4
2018 3
2019 4
2020 11
2021 9
2022 11
2023 5
2024 4

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Search Results

160 results

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Page 1
Harnessing benefit from targeting tumor associated carbohydrate antigens.
Kieber-Emmons T, Monzavi-Karbassi B, Hutchins LF, Pennisi A, Makhoul I. Kieber-Emmons T, et al. Among authors: pennisi a. Hum Vaccin Immunother. 2017 Feb;13(2):323-331. doi: 10.1080/21645515.2017.1264789. Hum Vaccin Immunother. 2017. PMID: 27929800 Free PMC article. Review.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Barbier M, Bahlo M, Pennisi A, Jacoupy M, Tankard RM, Ewenczyk C, Davies KC, Lino-Coulon P, Colace C, Rafehi H, Auger N, Ansell BRE, van der Stelt I, Howell KB, Coutelier M, Amor DJ, Mundwiller E, Guillot-Noël L, Storey E, Gardner RJM, Wallis MJ, Brusco A, Corti O, Rötig A, Leventer RJ, Brice A, Delatycki MB, Stevanin G, Lockhart PJ, Durr A. Barbier M, et al. Among authors: pennisi a. Ann Neurol. 2022 Jul;92(1):122-137. doi: 10.1002/ana.26366. Epub 2022 May 7. Ann Neurol. 2022. PMID: 35411967 Free article.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Vogel GF, et al. Among authors: pennisi a. Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37272928 Free article. No abstract available.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: pennisi a. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
Managing Expectations in the Transition to Proof of Concept Studies.
Kieber-Emmons T, Makhoul I, Pennisi A, Siegel ER, Emanuel PD, Monzavi-Karbassi B, Steplewski Z, Beck JT, Hutchins LF. Kieber-Emmons T, et al. Among authors: pennisi a. Rev Recent Clin Trials. 2017;12(2):111-123. doi: 10.2174/1574887112666170321121250. Rev Recent Clin Trials. 2017. PMID: 28325150 Free PMC article. Review.
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Pennisi A, Rötig A, Roux CJ, Lévy R, Henneke M, Gärtner J, Teke Kisa P, Sarioglu FC, Yiş U, Konczal LL, Burkardt DD, Wu S, Gaignard P, Besmond C, Hubert L, Rio M, Barcia G, Munnich A, Boddaert N, Schiff M. Pennisi A, et al. J Med Genet. 2022 Feb;59(2):204-208. doi: 10.1136/jmedgenet-2020-107367. Epub 2020 Nov 16. J Med Genet. 2022. PMID: 33199448
Renal transplantation in children.
Fine RN, Edelbrock HH, Riddell H, Malekzadeh MH, Pennisi AJ, Ettenger RB, Uittenbogaart CH, Korsch BM. Fine RN, et al. Among authors: pennisi aj. Urology. 1977 Jun;9(6 Suppl):61-71. doi: 10.1080/21548331.1974.11707964. Urology. 1977. PMID: 329525 Review. No abstract available.
Retransplantation in children.
Fine RN, Malekzadeh MH, Pennisi AJ, Ettenger RB, Uittenbogaart CH, Korsch BM. Fine RN, et al. Among authors: pennisi aj. Proc Clin Dial Transplant Forum. 1978 Nov 18-20;8:78-81. Proc Clin Dial Transplant Forum. 1978. PMID: 386324
Expanding the clinical spectrum of MTTF mutations.
Barcia G, Assouline Z, Pennisi A, Steffann J, Boddaert N, Gitiaux C, Rötig A, Bonnefont JP, Munnich A. Barcia G, et al. Among authors: pennisi a. Mol Genet Metab Rep. 2019 Aug 13;21:100501. doi: 10.1016/j.ymgmr.2019.100501. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31463198 Free PMC article.
160 results