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Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD).
de Boer EMJ, Demaegd KC, de Bie CI, Veldink JH, van den Berg LH, van Es MA. de Boer EMJ, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Feb;25(1-2):53-60. doi: 10.1080/21678421.2023.2255621. Epub 2023 Sep 7. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 37679883 Review.
Genetic characterization of primary lateral sclerosis.
de Boer EMJ, de Vries BS, Pennings M, Kamsteeg EJ, Veldink JH, van den Berg LH, van Es MA. de Boer EMJ, et al. J Neurol. 2023 Aug;270(8):3970-3980. doi: 10.1007/s00415-023-11746-7. Epub 2023 May 3. J Neurol. 2023. PMID: 37133535 Free PMC article.
Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and Pathophysiology.
de Boer EMJ, Barritt AW, Elamin M, Anderson SJ, Broad R, Nisbet A, Goedee HS, Vázquez Costa JF, Prudlo J, Vedeler CA, Fernandez JP, Panades MP, Albertí Aguilo MA, Bella ED, Lauria G, Pinto WBVR, de Souza PVS, Oliveira ASB, Toro C, van Iersel J, Parson M, Harschnitz O, van den Berg LH, Veldink JH, Al-Chalabi A, Leigh PN, van Es MA. de Boer EMJ, et al. Neurol Clin Pract. 2021 Apr;11(2):147-157. doi: 10.1212/CPJ.0000000000000834. Neurol Clin Pract. 2021. PMID: 33842068 Free PMC article. Review.
Genotype-phenotype correlations of KIF5A stalk domain variants.
de Boer EMJ, van Rheenen W, Goedee HS, Kamsteeg EJ, Brilstra EH, Veldink JH, van Den Berg LH, van Es MA. de Boer EMJ, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):561-570. doi: 10.1080/21678421.2021.1907412. Epub 2021 Apr 8. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33829936
TDP-43 proteinopathies: a new wave of neurodegenerative diseases.
de Boer EMJ, Orie VK, Williams T, Baker MR, De Oliveira HM, Polvikoski T, Silsby M, Menon P, van den Bos M, Halliday GM, van den Berg LH, Van Den Bosch L, van Damme P, Kiernan MC, van Es MA, Vucic S. de Boer EMJ, et al. J Neurol Neurosurg Psychiatry. 2020 Nov 11;92(1):86-95. doi: 10.1136/jnnp-2020-322983. Online ahead of print. J Neurol Neurosurg Psychiatry. 2020. PMID: 33177049 Free PMC article. Review.