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Page 1
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink J… See abstract for full author list ➔ Johnson JO, et al. Among authors: palvadeau r. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
The genetic structure of the Turkish population reveals high levels of variation and admixture.
Kars ME, Başak AN, Onat OE, Bilguvar K, Choi J, Itan Y, Çağlar C, Palvadeau R, Casanova JL, Cooper DN, Stenson PD, Yavuz A, Buluş H, Günel M, Friedman JM, Özçelik T. Kars ME, et al. Among authors: palvadeau r. Proc Natl Acad Sci U S A. 2021 Sep 7;118(36):e2026076118. doi: 10.1073/pnas.2026076118. Proc Natl Acad Sci U S A. 2021. PMID: 34426522 Free PMC article.
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, Akgün T, Durmuş H, Şahin E, Çakar A, Başar Gürsoy E, Babacan Yıldız G, İşak B, Uluç K, Hanağası H, Bilgiç B, Turgut N, Aysal F, Ertaş M, Boz C, Kotan D, İdrisoğlu H, Soysal A, Uzun Adatepe N, Akalın MA, Koç F, Tan E, Oflazer P, Deymeer F, Taştan Ö, Çiçek AE, Kavak E, Parman Y, Başak AN. Tunca C, et al. Among authors: palvadeau r. Hum Mutat. 2020 Aug;41(8):e7-e45. doi: 10.1002/humu.24055. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32579787
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: palvadeau r. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594 Free PMC article.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Sanderson LE, et al. Among authors: palvadeau r. Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459. Brain. 2021. PMID: 33764426 Free PMC article.
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Vural A, Şimşir G, Tekgül Ş, Koçoğlu C, Akçimen F, Kartal E, Şen NE, Lahut S, Ömür Ö, Saner N, Gül T, Bayraktar E, Palvadeau R, Tunca C, Pirkevi Çetinkaya C, Gündoğdu Eken A, Şahbaz I, Kovancılar Koç M, Öztop Çakmak Ö, Hanağası H, Bilgiç B, Eraksoy M, Gündüz A, Apaydın H, Kızıltan G, Özekmekçi S, Siva A, Altıntaş A, Kaya Güleç ZE, Parman Y, Oflazer P, Deymeer F, Durmuş H, Şahin E, Çakar A, Tüfekçioğlu Z, Tektürk P, Çorbalı MO, Tireli H, Akdal G, Yiş U, Hız S, Şengün İ, Bora E, Serdaroğlu G, Erer Özbek S, Ağan K, İnce Günal D, Us Ö, Kurt SG, Aksoy D, Bora Tokçaer A, Elmas M, Gültekin M, Kumandaş S, Acer H, Kaya Özçora GD, Yayla V, Soysal A, Genç G, Güllüoğlu H, Kotan D, Özözen Ayas Z, Şahin HA, Tan E, Topçu M, Topçuoğlu ES, Akbostancı C, Koç F, Ertan S, Elibol B, Başak AN. Vural A, et al. Among authors: palvadeau r. Mov Disord. 2021 Jul;36(7):1676-1688. doi: 10.1002/mds.28518. Epub 2021 Feb 24. Mov Disord. 2021. PMID: 33624863
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D; PROSPAX Consortium; Schüle R, Synofzik M, Santorelli FM, Cocozza S. Scaravilli A, et al. Mov Disord. 2024 Aug;39(8):1343-1351. doi: 10.1002/mds.29871. Epub 2024 Jun 7. Mov Disord. 2024. PMID: 38847051