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

Year Number of Results
2003 1
2004 1
2006 1
2008 1
2009 4
2010 2
2011 4
2012 9
2013 3
2014 4
2015 7
2016 3
2017 4
2018 3
2019 4
2020 2
2021 4
2022 4
2023 1
2024 0

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57 results

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Page 1
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: sobrido mj. 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.
Primary familial brain calcifications.
Quintáns B, Oliveira J, Sobrido MJ. Quintáns B, et al. Among authors: sobrido mj. Handb Clin Neurol. 2018;147:307-317. doi: 10.1016/B978-0-444-63233-3.00020-8. Handb Clin Neurol. 2018. PMID: 29325620 Review.
Zebrafish Models of Autosomal Dominant Ataxias.
Quelle-Regaldie A, Sobrido-Cameán D, Barreiro-Iglesias A, Sobrido MJ, Sánchez L. Quelle-Regaldie A, et al. Among authors: sobrido mj. Cells. 2021 Feb 17;10(2):421. doi: 10.3390/cells10020421. Cells. 2021. PMID: 33671313 Free PMC article. Review.
Zebrafish Models of Autosomal Recessive Ataxias.
Quelle-Regaldie A, Sobrido-Cameán D, Barreiro-Iglesias A, Sobrido MJ, Sánchez L. Quelle-Regaldie A, et al. Among authors: sobrido mj. Cells. 2021 Apr 8;10(4):836. doi: 10.3390/cells10040836. Cells. 2021. PMID: 33917666 Free PMC article. Review.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA. Farazi Fard MA, et al. Among authors: sobrido mj. Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929741 Free PMC article.
Neurophysiological study in cerebrotendinous xanthomatosis.
Pilo B, de Blas G, Sobrido MJ, Navarro C, Grandas F, Barrero FJ, Moya MA, Jimenez-Escrig A. Pilo B, et al. Among authors: sobrido mj. Muscle Nerve. 2011 Apr;43(4):531-6. doi: 10.1002/mus.21905. Muscle Nerve. 2011. PMID: 21404287
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA. Farazi Fard MA, et al. Among authors: sobrido mj. Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. Am J Hum Genet. 2019. PMID: 31173719 Free PMC article. No abstract available.
57 results