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

Year Number of Results
1992 1
1993 7
1994 5
1995 12
1996 8
1997 9
1998 4
1999 6
2000 6
2001 4
2002 5
2003 2
2004 6
2005 6
2006 13
2007 19
2008 13
2009 9
2010 13
2011 10
2012 14
2013 16
2014 16
2015 19
2016 10
2017 11
2018 17
2019 6
2020 5
2021 15
2022 7
2023 0
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Search Results

269 results
Results by year
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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: stevanin g. Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. Brain. 2022. PMID: 34983064 Free article.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: stevanin g. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Barbier M, Bahlo M, Pennisi A, Jacoupy M, Tankard RM, Ewenczyk C, Davies KC, Lino-Coulon P, Colace C, Rafehi H, Auger N, Ansell BRE, van der Stelt I, Howell KB, Coutelier M, Amor DJ, Mundwiller E, Guillot-Noël L, Storey E, Gardner RJM, Wallis MJ, Brusco A, Corti O, Rötig A, Leventer RJ, Brice A, Delatycki MB, Stevanin G, Lockhart PJ, Durr A. Barbier M, et al. Among authors: stevanin g. Ann Neurol. 2022 Jul;92(1):122-137. doi: 10.1002/ana.26366. Epub 2022 May 7. Ann Neurol. 2022. PMID: 35411967 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: stevanin g. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 Free PMC article.
Spastic Paraplegia 11.
Stevanin G. Stevanin G. 2008 Mar 27 [updated 2019 Dec 19]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2008 Mar 27 [updated 2019 Dec 19]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301389 Free Books & Documents. Review.
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: stevanin g. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.
Update on the Genetics of Spastic Paraplegias.
Boutry M, Morais S, Stevanin G. Boutry M, et al. Among authors: stevanin g. Curr Neurol Neurosci Rep. 2019 Feb 28;19(4):18. doi: 10.1007/s11910-019-0930-2. Curr Neurol Neurosci Rep. 2019. PMID: 30820684 Free article. Review.
Autosomal dominant cerebellar ataxias.
Marelli C, Cazeneuve C, Brice A, Stevanin G, Dürr A. Marelli C, et al. Among authors: stevanin g. Rev Neurol (Paris). 2011 May;167(5):385-400. doi: 10.1016/j.neurol.2011.01.015. Epub 2011 May 5. Rev Neurol (Paris). 2011. PMID: 21546047 Review.
Spinocerebellar ataxia 13 and 25.
Stevanin G, Dürr A. Stevanin G, et al. Handb Clin Neurol. 2012;103:549-53. doi: 10.1016/B978-0-444-51892-7.00035-8. Handb Clin Neurol. 2012. PMID: 21827913 Review.
269 results