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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Among authors: jaeger b. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
The verbal fluency index: Dutch normative data for cognitive testing in ALS.
Beeldman E, Jaeger B, Raaphorst J, Seelen M, Veldink J, van den Berg L, de Visser M, Schmand B. Beeldman E, et al. Among authors: jaeger b. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Sep;15(5-6):388-91. doi: 10.3109/21678421.2014.906620. Epub 2014 May 27. Amyotroph Lateral Scler Frontotemporal Degener. 2014. PMID: 24862654
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Reumers SFI, Erasmus CE, Bouman K, Pennings M, Schouten M, Kusters B, Duijkers FAM, van der Kooi A, Jaeger B, Verschuuren-Bemelmans CC, Faber CG, van Engelen BG, Kamsteeg EJ, Jungbluth H, Voermans NC. Reumers SFI, et al. Among authors: jaeger b. Clin Genet. 2021 Dec;100(6):692-702. doi: 10.1111/cge.14054. Epub 2021 Sep 25. Clin Genet. 2021. PMID: 34463354 Free PMC article.
Is the Frontal Assessment Battery reliable in ALS patients?
Raaphorst J, Beeldman E, Jaeger B, Schmand B, van den Berg LH, Weikamp JG, Schelhaas HJ, de Visser M, de Haan RJ. Raaphorst J, et al. Among authors: jaeger b. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Jan;14(1):73-4. doi: 10.3109/17482968.2012.712974. Epub 2012 Aug 13. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 22889176
Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.
de Vries RJ, Jaeger B, Hellebrekers DMEI, Reneman L, Verhamme C, Smeets HJM, van Maarle MC, de Visser M, Bleeker FE. de Vries RJ, et al. Among authors: jaeger b. Clin Neurol Neurosurg. 2021 Jul;206:106637. doi: 10.1016/j.clineuro.2021.106637. Epub 2021 Apr 20. Clin Neurol Neurosurg. 2021. PMID: 34022688 Free article.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ. Pennings M, et al. Among authors: jaeger b. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
300 results