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447 results

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Page 1
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
Rodríguez-Palmero A, Schlüter A, Verdura E, Ruiz M, Martínez JJ, Gourlaouen I, Ka C, Lobato R, Casasnovas C, Le Gac G, Fourcade S, Pujol A. Rodríguez-Palmero A, et al. Among authors: schluter a. Ann Clin Transl Neurol. 2020 Sep;7(9):1574-1579. doi: 10.1002/acn3.51131. Epub 2020 Aug 15. Ann Clin Transl Neurol. 2020. PMID: 33245593 Free PMC article.
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L. Soehn AS, et al. Among authors: schluter a. Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. Epub 2016 Jun 17. Neurology. 2016. PMID: 27316240 Free PMC article.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR. Falkenberg KD, et al. Among authors: schluter a. Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007. Am J Hum Genet. 2017. PMID: 29220678 Free PMC article.
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Pant DC, et al. Among authors: schluter a. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620337 Free PMC article.
A novel mutation in the GFAP gene expands the phenotype of Alexander disease.
Casasnovas C, Verdura E, Vélez V, Schlüter A, Pons-Escoda A, Homedes C, Ruiz M, Fourcade S, Launay N, Pujol A. Casasnovas C, et al. Among authors: schluter a. J Med Genet. 2019 Dec;56(12):846-849. doi: 10.1136/jmedgenet-2018-105959. Epub 2019 Apr 19. J Med Genet. 2019. PMID: 31004048 Free article.
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.
Casasnovas C, Ruiz M, Schlüter A, Naudí A, Fourcade S, Veciana M, Castañer S, Albertí A, Bargalló N, Johnson M, Raymond GV, Fatemi A, Moser AB, Villarroya F, Portero-Otín M, Artuch R, Pamplona R, Pujol A. Casasnovas C, et al. Among authors: schluter a. Neurotherapeutics. 2019 Oct;16(4):1167-1182. doi: 10.1007/s13311-019-00735-2. Neurotherapeutics. 2019. PMID: 31077039 Free PMC article. Clinical Trial.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. Mingirulli N, et al. Among authors: schluter a. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 Free PMC article.
447 results