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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G. Goizet C, et al. Among authors: forlani s. Neurology. 2009 Oct 6;73(14):1111-9. doi: 10.1212/WNL.0b013e3181bacf59. Neurology. 2009. PMID: 19805727
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.
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, Gervais Bernard H, Lesage S, Blauwendraat C, Brice A. Cogan G, et al. Among authors: forlani s. medRxiv [Preprint]. 2024 May 3:2024.05.02.24306523. doi: 10.1101/2024.05.02.24306523. medRxiv. 2024. PMID: 38746197 Free PMC article. Preprint.
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
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.
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.
Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
Depienne C, Ciura S, Trouillard O, Bouteiller D, Leitão E, Nava C, Keren B, Marie Y, Guegan J, Forlani S, Brice A, Anheim M, Agid Y, Krack P, Damier P, Viallet F, Houeto JL, Durif F, Vidailhet M, Worbe Y, Roze E, Kabashi E, Hartmann A. Depienne C, et al. Among authors: forlani s. Tremor Other Hyperkinet Mov (N Y). 2023 Jul 14;13:22. doi: 10.5334/tohm.792. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37457636 Free PMC article.
110 results