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Page 1
Acetyl-dl-leucine in Niemann-Pick type C: A case series.
Bremova T, Malinová V, Amraoui Y, Mengel E, Reinke J, Kolníková M, Strupp M. Bremova T, et al. Among authors: kolnikova m. Neurology. 2015 Oct 20;85(16):1368-75. doi: 10.1212/WNL.0000000000002041. Epub 2015 Sep 23. Neurology. 2015. PMID: 26400580
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium. Panagiotakaki E, et al. Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5. Orphanet J Rare Dis. 2015. PMID: 26410222 Free PMC article.
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.
Pineda M, Juríčková K, Karimzadeh P, Kolnikova M, Malinova V, Insua JL, Velten C, Kolb SA. Pineda M, et al. Among authors: kolnikova m. Orphanet J Rare Dis. 2019 Jan 8;14(1):32. doi: 10.1186/s13023-019-0996-6. Orphanet J Rare Dis. 2019. PMID: 30732631 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.
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.
29 results