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

Year Number of Results
1950 1
1951 5
1952 3
1953 1
1955 1
1956 2
1957 1
1958 1
1959 1
1961 2
1963 3
1964 1
1965 2
1966 4
1967 6
1969 3
1970 4
1971 1
1973 2
1975 3
1976 3
1978 4
1979 1
1980 3
1981 1
1982 4
1983 5
1984 6
1985 13
1986 11
1987 6
1988 8
1989 10
1990 9
1991 15
1992 13
1993 16
1994 13
1995 9
1996 11
1997 13
1998 9
1999 17
2000 11
2001 6
2002 12
2003 17
2004 25
2005 15
2006 17
2007 17
2008 31
2009 26
2010 35
2011 39
2012 46
2013 46
2014 40
2015 38
2016 46
2017 40
2018 39
2019 37
2020 51
2021 49
2022 37
2023 41
2024 39

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973 results

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Page 1
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogné B, Curry C, D'Agostino MD, Di Donato N, Faivre L, Héron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Küry S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH. Lennox AL, et al. Among authors: charles p. Neuron. 2020 May 6;106(3):404-420.e8. doi: 10.1016/j.neuron.2020.01.042. Epub 2020 Mar 4. Neuron. 2020. PMID: 32135084 Free PMC article.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: charles p. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Long-Term Rituximab Use to Maintain Remission of Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Randomized Trial.
Charles P, Perrodeau É, Samson M, Bonnotte B, Néel A, Agard C, Huart A, Karras A, Lifermann F, Godmer P, Cohen P, Hanrotel-Saliou C, Martin-Silva N, Pugnet G, Maurier F, Sibilia J, Carron PL, Gobert P, Meaux-Ruault N, Le Gallou T, Vinzio S, Viallard JF, Hachulla E, Vinter C, Puéchal X, Terrier B, Ravaud P, Mouthon L, Guillevin L; French Vasculitis Study Group. Charles P, et al. Ann Intern Med. 2020 Aug 4;173(3):179-187. doi: 10.7326/M19-3827. Epub 2020 Jun 2. Ann Intern Med. 2020. PMID: 32479166 Clinical Trial.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Fischer-Zirnsak B, et al. Among authors: charles p. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353024 Free PMC article.
Rituximab as maintenance therapy for ANCA-associated vasculitides: pooled analysis and long-term outcome of 277 patients included in the MAINRITSAN trials.
Delestre F, Charles P, Karras A, Pagnoux C, Néel A, Cohen P, Aumaître O, Faguer S, Gobert P, Maurier F, Samson M, Godmer P, Bonnotte B, Cottin V, Hanrotel-Saliou C, Le Gallou T, Carron PL, Desmurs-Clavel H, Direz G, Jourde-Chiche N, Lifermann F, Martin-Silva N, Pugnet G, Quéméneur T, Matignon M, Benhamou Y, Daugas E, Lazaro E, Limal N, Ducret M, Huart A, Viallard JF, Hachulla E, Perrodeau E, Puechal X, Guillevin L, Porcher R, Terrier B; French Vasculitis Study Group (FVSG). Delestre F, et al. Among authors: charles p. Ann Rheum Dis. 2024 Jan 11;83(2):233-241. doi: 10.1136/ard-2023-224623. Ann Rheum Dis. 2024. PMID: 37918894
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: charles p. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 cases.
Allenbach Y, Uzunhan Y, Toquet S, Leroux G, Gallay L, Marquet A, Meyer A, Guillaud C, Limal N, Gagnadoux F, Hervier B, Borie R, Deligny C, Terrier B, Berezne A, Audia S, Champtiaux N, Devilliers H, Voermans N, Diot E, Servettaz A, Marhadour T, Castelain V, Humbert S, Blanchard-Delaunay C, Tieulie N, Charles P, Gerin M, Mekinian A, Priou P, Meurice JC, Tazi A, Cottin V, Miyara M, Grange B, Israël-Biet D, Phin-Huynh S, Bron C, De Saint Martin L, Fabien N, Mariampillai K, Nunes H, Benveniste O; French Myositis Network. Allenbach Y, et al. Among authors: charles p. Neurology. 2020 Jul 7;95(1):e70-e78. doi: 10.1212/WNL.0000000000009727. Epub 2020 Jun 2. Neurology. 2020. PMID: 32487712 Free PMC article.
High-throughput mass spectrometry maps the sepsis plasma proteome and differences in patient response.
Mi Y, Burnham KL, Charles PD, Heilig R, Vendrell I, Whalley J, Torrance HD, Antcliffe DB, May SM, Neville MJ, Berridge G, Hutton P, Geoghegan CG, Radhakrishnan J, Nesvizhskii AI, Yu F; GAinS Investigators; Davenport EE, McKechnie S, Davies R, O'Callaghan DJP, Patel P, Del Arroyo AG, Karpe F, Gordon AC, Ackland GL, Hinds CJ, Fischer R, Knight JC. Mi Y, et al. Among authors: charles pd. Sci Transl Med. 2024 Jun 5;16(750):eadh0185. doi: 10.1126/scitranslmed.adh0185. Epub 2024 Jun 5. Sci Transl Med. 2024. PMID: 38838133
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D. Schmetz A, et al. Among authors: charles p. Hum Genet. 2024 Jan;143(1):71-84. doi: 10.1007/s00439-023-02622-5. Epub 2023 Dec 20. Hum Genet. 2024. PMID: 38117302
Post-traumatic endophthalmitis.
Essex RW, Yi Q, Charles PG, Allen PJ. Essex RW, et al. Among authors: charles pg. Ophthalmology. 2004 Nov;111(11):2015-22. doi: 10.1016/j.ophtha.2003.09.041. Ophthalmology. 2004. PMID: 15522366
973 results