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Page 1
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.
Fournier C, Barbier M, Camuzat A, Anquetil V, Lattante S, Clot F, Cazeneuve C, Rinaldi D, Couratier P, Deramecourt V, Sabatelli M, Belliard S, Vercelletto M, Forlani S, Jornea L; French Clinical and Genetic Research Network on FTLD/FTLD-ALS; PREVDEMALS and FTLD-Exome Study Groups; Leguern E, Brice A, Le Ber I. Fournier C, et al. Among authors: forlani s. Neurobiol Aging. 2019 Feb;74:234.e1-234.e8. doi: 10.1016/j.neurobiolaging.2018.09.010. Epub 2018 Sep 19. Neurobiol Aging. 2019. PMID: 30337192 Free article.
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
du Montcel ST, Charles P, Ribai P, Goizet C, Le Bayon A, Labauge P, Guyant-Maréchal L, Forlani S, Jauffret C, Vandenberghe N, N'guyen K, Le Ber I, Devos D, Vincitorio CM, Manto MU, Tison F, Hannequin D, Ruberg M, Brice A, Durr A. du Montcel ST, et al. Among authors: forlani s. Brain. 2008 May;131(Pt 5):1352-61. doi: 10.1093/brain/awn059. Epub 2008 Mar 31. Brain. 2008. PMID: 18378516
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. Goizet C, et al. Among authors: forlani s. Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21618648
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.
Tezenas du Montcel S, Durr A, Rakowicz M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P, Dufaure-Garé I, Jacobi H, Forlani S, Schmitz-Hübsch T, Filla A, Timmann D, van de Warrenburg BP, Marelli C, Kang JS, Giunti P, Cook A, Baliko L, Melegh B, Boesch S, Szymanski S, Berciano J, Infante J, Buerk K, Masciullo M, Di Fabio R, Depondt C, Ratka S, Stevanin G, Klockgether T, Brice A, Golmard JL. Tezenas du Montcel S, et al. Among authors: forlani s. J Med Genet. 2014 Jul;51(7):479-86. doi: 10.1136/jmedgenet-2013-102200. Epub 2014 Apr 29. J Med Genet. 2014. PMID: 24780882 Free PMC article.
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Among authors: forlani s. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
Survival and severity in dominant cerebellar ataxias.
Monin ML, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A, Durr A. Monin ML, et al. Among authors: forlani s. Ann Clin Transl Neurol. 2015 Feb;2(2):202-7. doi: 10.1002/acn3.156. Epub 2015 Jan 7. Ann Clin Transl Neurol. 2015. PMID: 25750924 Free PMC article.
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.
Teyssou E, Chartier L, Amador MD, Lam R, Lautrette G, Nicol M, Machat S, Da Barroca S, Moigneu C, Mairey M, Larmonier T, Saker S, Dussert C, Forlani S, Fontaine B, Seilhean D, Bohl D, Boillée S, Meininger V, Couratier P, Salachas F, Stevanin G, Millecamps S. Teyssou E, et al. Among authors: forlani s. Neurobiol Aging. 2017 Oct;58:239.e11-239.e20. doi: 10.1016/j.neurobiolaging.2017.06.018. Epub 2017 Jun 24. Neurobiol Aging. 2017. PMID: 28716533 Free article.
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.
Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.
Saracino D, Clot F, Camuzat A, Anquetil V, Hannequin D, Guyant-Maréchal L, Didic M, Guillot-Noël L, Rinaldi D, Latouche M, Forlani S, Ghassab Y, Coppola C, Di Iorio G, David I; French research network on FTD/FTD-ALS; Le Guern E, Brice A, Le Ber I. Saracino D, et al. Among authors: forlani s. Neurobiol Aging. 2018 Dec;72:187.e11-187.e14. doi: 10.1016/j.neurobiolaging.2018.06.037. Epub 2018 Jun 30. Neurobiol Aging. 2018. PMID: 30005904 Free article.
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.
Saracino D, Sellami L, Clot F, Camuzat A, Lamari F, Rucheton B, Benyounes I, Roué-Jagot C, Lagarde J, Sarazin M, Jornea L, Forlani S, LeGuern E, Dubois B, Brice A, Le Ber I. Saracino D, et al. Among authors: forlani s. Neurobiol Aging. 2020 Jan;85:154.e9-154.e11. doi: 10.1016/j.neurobiolaging.2019.06.002. Epub 2019 Jun 10. Neurobiol Aging. 2020. PMID: 31262553
116 results