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Page 1
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F. Esteves T, et al. Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2. Am J Hum Genet. 2014. PMID: 24388663 Free PMC article.
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.
Murmu RP, Martin E, Rastetter A, Esteves T, Muriel MP, El Hachimi KH, Denora PS, Dauphin A, Fernandez JC, Duyckaerts C, Brice A, Darios F, Stevanin G. Murmu RP, et al. Among authors: esteves t. Mol Cell Neurosci. 2011 Jul;47(3):191-202. doi: 10.1016/j.mcn.2011.04.004. Epub 2011 Apr 27. Mol Cell Neurosci. 2011. PMID: 21545838
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G. Tesson C, et al. Among authors: esteves t. Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176821 Free PMC article.
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robinson MS. Hirst J, et al. Among authors: esteves t. Hum Mol Genet. 2015 Sep 1;24(17):4984-96. doi: 10.1093/hmg/ddv220. Epub 2015 Jun 17. Hum Mol Genet. 2015. PMID: 26085577 Free PMC article.
Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.
Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, Vallucci M, Esteves T, Matusiak R, Dumont M, Muriel MP, Santorelli FM, Brice A, El Hachimi KH, Stevanin G, Darios F. Branchu J, et al. Among authors: esteves t. Neurobiol Dis. 2017 Jun;102:21-37. doi: 10.1016/j.nbd.2017.02.007. Epub 2017 Feb 22. Neurobiol Dis. 2017. PMID: 28237315 Free PMC article.
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Parodi L, Barbier M, Jacoupy M, Pujol C, Lejeune FX, Lallemant-Dudek P, Esteves T, Pennings M, Kamsteeg EJ, Guillaud-Bataille M, Banneau G, Coarelli G, Oumoussa BM, Fraidakis MJ, Stevanin G, Depienne C, van de Warrenburg B, Brice A, Durr A. Parodi L, et al. Among authors: esteves t. Genet Med. 2022 Nov;24(11):2308-2317. doi: 10.1016/j.gim.2022.07.023. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36056923 Free article.
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko M, Yahia A, Elsayed LE, Hamed AA, Mohammed IN, Elseed MA, Hamad MHA, Babai AM, Siddig RA, Abd Allah ASI, Mohamed M, El-Amin M, Esteves T, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Salih MA, Ahmed AE, Lerche H, Stevanin G. Koko M, et al. Among authors: esteves t. Ann Hum Genet. 2021 Sep;85(5):186-195. doi: 10.1111/ahg.12437. Epub 2021 Jun 10. Ann Hum Genet. 2021. PMID: 34111303
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N, Abubaker R, Koko M, Abozar F, Malik H, Adil R, Emad S, Musallam MA, Idris R, Eltazi IZM, Babai A, Ahmed EAA, Abd Allah ASI, Mairey M, Ahmed AKMA, Elbashir MI, Brice A, Ibrahim ME, Ahmed AE, Lamari F, Stevanin G. Yahia A, et al. Among authors: esteves t. Front Neurol. 2021 Aug 20;12:720201. doi: 10.3389/fneur.2021.720201. eCollection 2021. Front Neurol. 2021. PMID: 34489854 Free PMC article.
Beyond Clinical Trials: Understanding Neurotrophic Tropomyosin Receptor Kinase Inhibitor Challenges and Efficacy in Real-World Pediatric Oncology.
Vince CSC, Brassesco MS, Mançano BM, Gregianin LJ, Carbone EK, do Amaral E Castro A, Dwan VSY, Menezes da Silva RZ, Mariano CS, da Mata JF, Silva MO, Caran EMM, Macedo CD, Alves da Costa G, Esteves TC, Silva LN, Ferman SE, Martins FD, Cristófani LM, Odone-Filho V, Silva MM, Reis RM, Pianovski MAD, Campregher PV, Kunii MS, de Sá Rodrigues KE, Carvalho Filho NP, Valera ET; Brazilian Committee of Precision Medicine in Pediatric Oncology (BC-PMPO)—the Brazilian Society of Pediatric Oncology (SOBOPE). Vince CSC, et al. Among authors: esteves tc. JCO Precis Oncol. 2024 May;8:e2300713. doi: 10.1200/PO.23.00713. JCO Precis Oncol. 2024. PMID: 38810175
76 results