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Year Number of Results
2008 2
2014 1
2015 4
2016 1
2017 1
2018 3
2019 3
2020 2
2021 5
2022 4
2023 4
2024 1

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27 results

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Page 1
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: kolnikova m. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.
Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA. Bremova-Ertl T, et al. Among authors: kolnikova m. J Neurol. 2022 Mar;269(3):1651-1662. doi: 10.1007/s00415-021-10717-0. Epub 2021 Aug 13. J Neurol. 2022. PMID: 34387740 Free PMC article. Clinical Trial.
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. Skopkova M, et al. Among authors: kolnikova m. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23. Hum Mutat. 2017. PMID: 28055140 Free PMC article.
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.
Bremova-Ertl T, Abel L, Walterfang M, Salsano E, Ardissone A, Malinová V, Kolníková M, Gascón Bayarri J, Reza Tavasoli A, Reza Ashrafi M, Amraoui Y, Mengel E, Kolb SA, Brecht A, Bardins S, Strupp M. Bremova-Ertl T, et al. Among authors: kolnikova m. Eur J Neurol. 2021 Sep;28(9):3040-3050. doi: 10.1111/ene.14955. Epub 2021 Jul 12. Eur J Neurol. 2021. PMID: 34096670 Free PMC article.
27 results