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Year Number of Results
1992 1
1994 1
1996 1
1999 1
2002 1
2007 1
2008 1
2010 1
2011 1
2012 3
2013 3
2014 1
2015 1
2016 3
2017 2
2018 2
2019 5
2020 5
2021 13
2022 8
2023 10
2024 1

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58 results

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Page 1
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: ravelli c. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. PMID: 37398376 Free PMC article. Preprint.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group. Mercuri E, et al. Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Lancet Neurol. 2022. PMID: 34942136
Highlighting the Dystonic Phenotype Related to GNAO1.
Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M. Wirth T, et al. Among authors: ravelli c. Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20. Mov Disord. 2022. PMID: 35722775 Free PMC article.
Role of VEGFs in metabolic disorders.
di Somma M, Vliora M, Grillo E, Castro B, Dakou E, Schaafsma W, Vanparijs J, Corsini M, Ravelli C, Sakellariou E, Mitola S. di Somma M, et al. Among authors: ravelli c. Angiogenesis. 2020 May;23(2):119-130. doi: 10.1007/s10456-019-09700-1. Epub 2019 Dec 18. Angiogenesis. 2020. PMID: 31853841 Review.
Role of gremlin-1 in the pathophysiology of the adipose tissues.
Grillo E, Ravelli C, Colleluori G, D'Agostino F, Domenichini M, Giordano A, Mitola S. Grillo E, et al. Among authors: ravelli c. Cytokine Growth Factor Rev. 2023 Feb;69:51-60. doi: 10.1016/j.cytogfr.2022.09.004. Epub 2022 Sep 14. Cytokine Growth Factor Rev. 2023. PMID: 36155165 Review.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Among authors: ravelli c. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Tremor-like subcortical myoclonus in STXBP1 encephalopathy.
Loussouarn A, Doummar D, Beaugendre Y, Bienvenu T, Charles P, Depienne C, Dorison N, Heide S, Héron D, Ioos C, Keren B, Métreau J, Mochel F, Moutard ML, Ravelli C, Apartis E, Mignot C. Loussouarn A, et al. Among authors: ravelli c. Eur J Paediatr Neurol. 2021 Sep;34:62-66. doi: 10.1016/j.ejpn.2021.06.005. Epub 2021 Jul 3. Eur J Paediatr Neurol. 2021. PMID: 34392114
The impact of adipokines on vascular networks in adipose tissue.
Vliora M, Ravelli C, Grillo E, Corsini M, Flouris AD, Mitola S. Vliora M, et al. Among authors: ravelli c. Cytokine Growth Factor Rev. 2023 Feb;69:61-72. doi: 10.1016/j.cytogfr.2022.07.008. Epub 2022 Jul 23. Cytokine Growth Factor Rev. 2023. PMID: 35953434 Review.
FGF-trapping hampers cancer stem-like cells in uveal melanoma.
Loda A, Calza S, Giacomini A, Ravelli C, Krishna Chandran AM, Tobia C, Tabellini G, Parolini S, Semeraro F, Ronca R, Rezzola S. Loda A, et al. Among authors: ravelli c. Cancer Cell Int. 2023 May 11;23(1):89. doi: 10.1186/s12935-023-02903-z. Cancer Cell Int. 2023. PMID: 37165394 Free PMC article.
Monoamine neurotransmitters and movement disorders in children and adults.
Doummar D, Moussa F, Nougues MC, Ravelli C, Louha M, Whalen S, Burglen L, Rodriguez D, Billette de Villemeur T. Doummar D, et al. Among authors: ravelli c. Rev Neurol (Paris). 2018 Nov;174(9):581-588. doi: 10.1016/j.neurol.2018.07.002. Epub 2018 Aug 27. Rev Neurol (Paris). 2018. PMID: 30166070 Review.
58 results