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Year Number of Results
1988 1
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1996 1
1998 1
1999 4
2000 2
2001 2
2002 7
2003 3
2004 1
2005 4
2006 6
2007 8
2008 3
2009 4
2010 5
2011 3
2013 6
2014 4
2015 3
2016 1
2017 2
2018 3
2019 7
2020 10
2021 13
2022 6
2023 8
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2025 0

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116 results

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Page 1
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network; Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G. Méreaux JL, et al. Among authors: forlani s. Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. Brain. 2022. PMID: 34983064 Free article.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Novarino G, et al. Among authors: forlani s. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 Free PMC article.
Effect of Transcatheter Aortic Valve Implantation vs Surgical Aortic Valve Replacement on All-Cause Mortality in Patients With Aortic Stenosis: A Randomized Clinical Trial.
UK TAVI Trial Investigators; Toff WD, Hildick-Smith D, Kovac J, Mullen MJ, Wendler O, Mansouri A, Rombach I, Abrams KR, Conroy SP, Flather MD, Gray AM, MacCarthy P, Monaghan MJ, Prendergast B, Ray S, Young CP, Crossman DC, Cleland JGF, de Belder MA, Ludman PF, Jones S, Densem CG, Tsui S, Kuduvalli M, Mills JD, Banning AP, Sayeed R, Hasan R, Fraser DGW, Trivedi U, Davies SW, Duncan A, Curzen N, Ohri SK, Malkin CJ, Kaul P, Muir DF, Owens WA, Uren NG, Pessotto R, Kennon S, Awad WI, Khogali SS, Matuszewski M, Edwards RJ, Ramesh BC, Dalby M, Raja SG, Mariscalco G, Lloyd C, Cox ID, Redwood SR, Gunning MG, Ridley PD. UK TAVI Trial Investigators, et al. JAMA. 2022 May 17;327(19):1875-1887. doi: 10.1001/jama.2022.5776. JAMA. 2022. PMID: 35579641 Free PMC article. Clinical Trial.
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Coutelier M, et al. Among authors: forlani s. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Méreaux JL, et al. Among authors: forlani s. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
Wirth T, Roze E, Delvallée C, Trouillard O, Drouot N, Damier P, Boulay C, Bourgninaud M, Jegatheesan P, Sangare A, Forlani S, Gaymard B, Hervochon R, Navarro V, Calmels N, Schalk A, Tranchant C, Piton A, Méneret A, Anheim M. Wirth T, et al. Among authors: forlani s. Mov Disord. 2024 May;39(5):897-905. doi: 10.1002/mds.29752. Epub 2024 Mar 4. Mov Disord. 2024. PMID: 38436103
Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease.
Cogan G, Daida K, Billingsley KJ, Tesson C, Forlani S, Jornea L, Arnaud L, Tissier L, LeGuern E, Singleton AB, Ferrien M, Bernard HG, Lesage S, Blauwendraat C, Brice A. Cogan G, et al. Among authors: forlani s. Mov Disord. 2024 Sep;39(9):1647-1648. doi: 10.1002/mds.29914. Epub 2024 Jun 28. Mov Disord. 2024. PMID: 38943243 Free article. No abstract available.
New class of RNA biomarker for endometriosis diagnosis: The potential of salivary piRNA expression.
Dabi Y, Suisse S, Marie Y, Delbos L, Poilblanc M, Descamps P, Golfier F, Jornea L, Forlani S, Bouteiller D, Touboul C, Puchar A, Bendifallah S, Daraï E. Dabi Y, et al. Among authors: forlani s. Eur J Obstet Gynecol Reprod Biol. 2023 Dec;291:88-95. doi: 10.1016/j.ejogrb.2023.10.015. Epub 2023 Oct 13. Eur J Obstet Gynecol Reprod Biol. 2023. PMID: 37857147 Free article.
116 results