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Page 1
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.
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.
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.
Navas-Sánchez FJ, Fernández-Pena A, Martín de Blas D, Alemán-Gómez Y, Marcos-Vidal L, Guzmán-de-Villoria JA, Fernández-García P, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Pardo J, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. Among authors: sobrido mj. J Neurol. 2021 Jul;268(7):2429-2440. doi: 10.1007/s00415-020-10387-4. Epub 2021 Jan 28. J Neurol. 2021. PMID: 33507371
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.
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Seixas AI, Loureiro JR, Costa C, Ordóñez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandão E, Cruz VT, Timóteo A, Quintáns B, Rouleau GA, Rizzu P, Carracedo Á, Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I. Seixas AI, et al. Among authors: sobrido mj. Am J Hum Genet. 2017 Jul 6;101(1):87-103. doi: 10.1016/j.ajhg.2017.06.007. Am J Hum Genet. 2017. PMID: 28686858 Free PMC article.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. Boone PM, et al. Among authors: sobrido mj. Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065914 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.
Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study.
Navas-Sánchez FJ, Marcos-Vidal L, de Blas DM, Fernández-Pena A, Alemán-Gómez Y, Guzmán-de-Villoria JA, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. Among authors: sobrido mj. J Neurol. 2022 Jun;269(6):3189-3203. doi: 10.1007/s00415-021-10933-8. Epub 2022 Jan 9. J Neurol. 2022. PMID: 34999956
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4).
Navas-Sánchez FJ, Martín De Blas D, Fernández-Pena A, Alemán-Gómez Y, Lage-Castellanos A, Marcos-Vidal L, Guzmán-De-Villoria JA, Catalina I, Lillo L, Muñoz-Blanco JL, -Ugalde AO, Quintáns B, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. Among authors: sobrido mj. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):25-34. doi: 10.1080/21678421.2021.1962353. Epub 2021 Aug 16. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34396852
103 results