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

Year Number of Results
1996 3
1997 2
1998 11
1999 9
2000 7
2001 8
2002 10
2003 9
2004 5
2005 16
2006 16
2007 15
2008 19
2009 18
2010 22
2011 23
2012 22
2013 19
2014 17
2015 24
2016 15
2017 20
2018 14
2019 13
2020 18
2021 16
2022 14
2023 7

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333 results

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Page 1
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, Dhir A, Frémond ML, Rodero MP, Seabra L, Carter E, Bodemer C, Buhas D, Callewaert B, de Lonlay P, De Somer L, Dyment DA, Faes F, Grove L, Holden S, Hully M, Kurian MA, McMillan HJ, Suetens K, Tyynismaa H, Chhun S, Wai T, Wouters C, Bader-Meunier B, Crow YJ. Lepelley A, et al. Among authors: de lonlay p. J Exp Med. 2021 Oct 4;218(10):e20201560. doi: 10.1084/jem.20201560. Epub 2021 Aug 13. J Exp Med. 2021. PMID: 34387651 Free PMC article.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: de lonlay p. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Complement activation is a crucial driver of acute kidney injury in rhabdomyolysis.
Boudhabhay I, Poillerat V, Grunenwald A, Torset C, Leon J, Daugan MV, Lucibello F, El Karoui K, Ydee A, Chauvet S, Girardie P, Sacks S, Farrar CA, Garred P, Berthaud R, Le Quintrec M, Rabant M, de Lonlay P, Rambaud C, Gnemmi V, Fremeaux-Bacchi V, Frimat M, Roumenina LT. Boudhabhay I, et al. Among authors: de lonlay p. Kidney Int. 2021 Mar;99(3):581-597. doi: 10.1016/j.kint.2020.09.033. Epub 2020 Nov 1. Kidney Int. 2021. PMID: 33137339 Free article.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: de lonlay p. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489
Congenital hyperinsulinism.
Barthlen W, de Lonlay P. Barthlen W, et al. Among authors: de lonlay p. Semin Pediatr Surg. 2011 Feb;20(1):1-2. doi: 10.1053/j.sempedsurg.2010.10.001. Semin Pediatr Surg. 2011. PMID: 21185996 No abstract available.
Hyperinsulinaemic hypoglycaemia.
Arya VB, Mohammed Z, Blankenstein O, De Lonlay P, Hussain K. Arya VB, et al. Among authors: de lonlay p. Horm Metab Res. 2014 Mar;46(3):157-70. doi: 10.1055/s-0034-1367063. Epub 2014 Feb 20. Horm Metab Res. 2014. PMID: 24557504 Review.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Among authors: de lonlay p. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
Congenital hyperinsulinism.
Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, Mohnike K, Valayannopoulos V, Robert JJ, Rahier J, Sempoux C, Bellanné C, Verkarre V, Aigrain Y, Jaubert F, Brunelle F, Nihoul-Fékété C. Arnoux JB, et al. Among authors: de lonlay p. Early Hum Dev. 2010 May;86(5):287-94. doi: 10.1016/j.earlhumdev.2010.05.003. Epub 2010 Jun 13. Early Hum Dev. 2010. PMID: 20550977 Review.
Neonatal hypoglycaemia: aetiologies.
de Lonlay P, Giurgea I, Touati G, Saudubray JM. de Lonlay P, et al. Semin Neonatol. 2004 Feb;9(1):49-58. doi: 10.1016/j.siny.2003.08.002. Semin Neonatol. 2004. PMID: 15013475 Review.
Persistent hyperinsulinaemic hypoglycaemia.
de Lonlay P, Touati G, Robert JJ, Saudubray JM. de Lonlay P, et al. Semin Neonatol. 2002 Feb;7(1):95-100. doi: 10.1053/siny.2001.0090. Semin Neonatol. 2002. PMID: 12069542 Review.
333 results