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

Year Number of Results
1995 1
1996 1
2002 1
2003 1
2004 3
2005 1
2006 3
2007 3
2008 5
2009 8
2010 6
2011 9
2012 9
2013 4
2014 12
2015 2
2016 6
2017 4
2018 3
2019 5
2020 7
2021 8
2022 6
2023 7
2024 2

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105 results

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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: funalot b. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Endoneurial fibroblast-like cells.
Richard L, Topilko P, Magy L, Decouvelaere AV, Charnay P, Funalot B, Vallat JM. Richard L, et al. Among authors: funalot b. J Neuropathol Exp Neurol. 2012 Nov;71(11):938-47. doi: 10.1097/NEN.0b013e318270a941. J Neuropathol Exp Neurol. 2012. PMID: 23095846 Review.
[Familial amyloidotic polyneuropathies].
Vallat JM, Funalot B, Faugeras F, Magy L. Vallat JM, et al. Among authors: funalot b. Bull Acad Natl Med. 2012 Oct;196(7):1321-9; discussion 1329-31. Bull Acad Natl Med. 2012. PMID: 23815017 Review. French.
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Among authors: funalot b. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
The various Charcot-Marie-Tooth diseases.
Vallat JM, Mathis S, Funalot B. Vallat JM, et al. Among authors: funalot b. Curr Opin Neurol. 2013 Oct;26(5):473-80. doi: 10.1097/WCO.0b013e328364c04b. Curr Opin Neurol. 2013. PMID: 23945280 Review.
[Hereditary peripheral neuropathies].
Vallat JM, Tazir M, Calvo J, Funalot B. Vallat JM, et al. Among authors: funalot b. Presse Med. 2009 Sep;38(9):1325-34. doi: 10.1016/j.lpm.2009.01.014. Epub 2009 Mar 26. Presse Med. 2009. PMID: 19327944 Review. French.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. Among authors: funalot b. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.
Dang J, Ferlicot S, Misrahi M, Mussini C, Kounis I, Rémy P, Samuel D, Planté-Bordeneuve V, Adams D, Funalot B, Snanoudj R, Damy T, Moktefi A, Audard V, Zaidan M. Dang J, et al. Among authors: funalot b. Nephrol Dial Transplant. 2023 Aug 31;38(9):2019-2030. doi: 10.1093/ndt/gfad006. Nephrol Dial Transplant. 2023. PMID: 36646436
Inherited peripheral neuropathies due to mitochondrial disorders.
Cassereau J, Codron P, Funalot B. Cassereau J, et al. Among authors: funalot b. Rev Neurol (Paris). 2014 May;170(5):366-74. doi: 10.1016/j.neurol.2013.11.005. Epub 2014 Apr 24. Rev Neurol (Paris). 2014. PMID: 24768438 Review.
105 results