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Year Number of Results
2012 3
2013 4
2014 5
2015 5
2016 5
2017 4
2018 2
2019 1
2020 3
2021 1
2023 1
2024 1

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29 results

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Page 1
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Finkel RS, et al. N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. N Engl J Med. 2017. PMID: 29091570 Free article. Clinical Trial.
LRP10 in α-synucleinopathies.
Pihlstrøm L, Schottlaender L, Chelban V, Houlden H; MSA Exome Consortium. Pihlstrøm L, et al. Among authors: schottlaender l. Lancet Neurol. 2018 Dec;17(12):1033-1034. doi: 10.1016/S1474-4422(18)30407-1. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507385 No abstract available.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: schottlaender lv. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Mutant COQ2 in multiple-system atrophy.
Schottlaender LV, Houlden H; Multiple-System Atrophy (MSA) Brain Bank Collaboration. Schottlaender LV, et al. N Engl J Med. 2014 Jul 3;371(1):81. doi: 10.1056/NEJMc1311763. N Engl J Med. 2014. PMID: 24988569 No abstract available.
Variable presentations of postpartum angiopathy.
Fugate JE, Ameriso SF, Ortiz G, Schottlaender LV, Wijdicks EF, Flemming KD, Rabinstein AA. Fugate JE, et al. Among authors: schottlaender lv. Stroke. 2012 Mar;43(3):670-6. doi: 10.1161/STROKEAHA.111.639575. Epub 2012 Jan 5. Stroke. 2012. PMID: 22223244
Lysosomal storage disorder gene variants in multiple system atrophy.
Pihlstrøm L, Schottlaender L, Chelban V; MSA Exome Consortium; Meissner WG, Federoff M, Singleton A, Houlden H. Pihlstrøm L, et al. Among authors: schottlaender l. Brain. 2018 Jul 1;141(7):e53. doi: 10.1093/brain/awy124. Brain. 2018. PMID: 29741613 Free PMC article. No abstract available.
29 results