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Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
El-Hassar L, Amara A, Sanson B, Lacatus O, Amir Belhouchet A, Kroneman M, Claeys K, Plançon JP, Rodolico C, Primiano G, Trojsi F, Filosto M, Mongini TE, Bortolani S, Monforte M, Carraro E, Maggi L, Ricci F, Silani V, Orsucci D, Créange A, Péréon Y, Stojkovic T, van der Beek NAME, Toscano A, Pareyson D, Attarian S, Van den Bergh PYK, Remiche G, Hoeijmakers JGJ, Badrising U, Voermans NC, Kaindl AM, Schara-Schmidt U, Schoser B, Gazzerro E, Haberlová J, Voháňka S, Pál E, Molnar MJ, Leonardis L, Tournev IL, Osorio AN, Olivé M, Muelas N, Alonso-Perez J, Plá F, de Visser M, Siciliano G, Sacconi S. El-Hassar L, et al. Among authors: van den bergh pyk, van der beek name. J Neuromuscul Dis. 2023;10(2):173-184. doi: 10.3233/JND-221525. J Neuromuscul Dis. 2023. PMID: 36373291 Free article.
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease. Ditters IAM, et al. Among authors: van der ploeg at, van den hout jmp, van der beek name. Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. doi: 10.1016/S2352-4642(21)00308-4. Epub 2021 Nov 22. Lancet Child Adolesc Health. 2022. PMID: 34822769
A randomized study of alglucosidase alfa in late-onset Pompe's disease.
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA. van der Ploeg AT, et al. N Engl J Med. 2010 Apr 15;362(15):1396-406. doi: 10.1056/NEJMoa0909859. N Engl J Med. 2010. PMID: 20393176 Free article. Clinical Trial.
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning.
van den Dorpel JJA, Mackenbach MJ, Dremmen MHG, van der Vlugt WMC, Rizopoulos D, van Doorn PA, van der Ploeg AT, Muetzel R, van der Beek NAME, van den Hout JMP. van den Dorpel JJA, et al. Among authors: van der beek name. J Inherit Metab Dis. 2024 Apr 8. doi: 10.1002/jimd.12736. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38584574
Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study.
Dimachkie MM, Kishnani PS, Ivanescu C, Flore G, Gwaltney C, van der Beek NAME, Hamed A, An Haack K, Pollissard L, Baranowski E, Sparks SE, DasMahapatra P; for COMET Study Group. Dimachkie MM, et al. Among authors: van der beek name. Neurol Clin Pract. 2023 Oct;13(5):e200181. doi: 10.1212/CPJ.0000000000200181. Epub 2023 Aug 8. Neurol Clin Pract. 2023. PMID: 37559825 Free PMC article.
Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease.
Mackenbach MJ, Willemse EAJ, van den Dorpel JJA, van der Beek NAME, Díaz-Manera J, Rizopoulos D, Teunissen C, van der Ploeg AT, van den Hout JMP. Mackenbach MJ, et al. Among authors: van der beek name. Neurology. 2023 Aug 8;101(6):e594-e601. doi: 10.1212/WNL.0000000000207482. Epub 2023 Jun 19. Neurology. 2023. PMID: 37336766 Free PMC article.
62 results