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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch… See abstract for full author list ➔ Wiessner M, et al. Among authors: schmitt e. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Brain. 2021. PMID: 33970200 Free PMC article.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta AT, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Olgac Dundar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Català-Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik… See abstract for full author list ➔ Wiessner M, et al. Among authors: schmitt e. Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193. Brain. 2021. PMID: 34480796 Free PMC article. No abstract available.
Endovascular treatment of ischemic stroke due to isolated internal carotid artery occlusion: ETIS registry data analysis.
Ter Schiphorst A, Peres R, Dargazanli C, Blanc R, Gory B, Richard S, Marnat G, Sibon I, Guillon B, Bourcier R, Denier C, Spelle L, Labreuche J, Consoli A, Lapergue B, Costalat V, Obadia M, Arquizan C; ETIS Registry Investigators. Ter Schiphorst A, et al. J Neurol. 2022 Aug;269(8):4383-4395. doi: 10.1007/s00415-022-11078-y. Epub 2022 Mar 31. J Neurol. 2022. PMID: 35357557
Mechanical thrombectomy failure in anterior circulation strokes: Outcomes and predictors of favorable outcome.
Marnat G, Gory B, Sibon I, Kyheng M, Labreuche J, Boulouis G, Liegey JS, Caroff J, Eugène F, Naggara O, Consoli A, Mazighi M, Maier B, Richard S, Denier C, Turc G, Lapergue B, Bourcier R; Endovascular Treatment in Ischemic Stroke (ETIS) Investigators. Marnat G, et al. Eur J Neurol. 2022 Sep;29(9):2701-2707. doi: 10.1111/ene.15429. Epub 2022 Jun 18. Eur J Neurol. 2022. PMID: 35648445 Free PMC article.
sEEG is a Safe Procedure for a Comprehensive Anatomic Exploration of the Insula: A Retrospective Study of 108 Procedures Representing 254 Transopercular Insular Electrodes.
Salado AL, Koessler L, De Mijolla G, Schmitt E, Vignal JP, Civit T, Tyvaert L, Jonas J, Maillard LG, Colnat-Coulbois S. Salado AL, et al. Among authors: schmitt e. Oper Neurosurg (Hagerstown). 2018 Jan 1;14(1):1-8. doi: 10.1093/ons/opx106. Oper Neurosurg (Hagerstown). 2018. PMID: 29117337
Neurologic and neuroimaging findings in patients with COVID-19: A retrospective multicenter study.
Kremer S, Lersy F, Anheim M, Merdji H, Schenck M, Oesterlé H, Bolognini F, Messie J, Khalil A, Gaudemer A, Carré S, Alleg M, Lecocq C, Schmitt E, Anxionnat R, Zhu F, Jager L, Nesser P, Mba YT, Hmeydia G, Benzakoun J, Oppenheim C, Ferré JC, Maamar A, Carsin-Nicol B, Comby PO, Ricolfi F, Thouant P, Boutet C, Fabre X, Forestier G, de Beaurepaire I, Bornet G, Desal H, Boulouis G, Berge J, Kazémi A, Pyatigorskaya N, Lecler A, Saleme S, Edjlali-Goujon M, Kerleroux B, Constans JM, Zorn PE, Mathieu M, Baloglu S, Ardellier FD, Willaume T, Brisset JC, Caillard S, Collange O, Mertes PM, Schneider F, Fafi-Kremer S, Ohana M, Meziani F, Meyer N, Helms J, Cotton F. Kremer S, et al. Among authors: schmitt e. Neurology. 2020 Sep 29;95(13):e1868-e1882. doi: 10.1212/WNL.0000000000010112. Epub 2020 Jul 17. Neurology. 2020. PMID: 32680942
1,225 results