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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2002 1
2004 1
2005 2
2006 1
2009 3
2010 2
2011 3
2012 5
2013 2
2014 8
2015 8
2016 9
2017 8
2018 4
2019 15
2020 16
2021 17
2022 10
2023 9
2024 17
2025 15
2026 5

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141 results

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Page 1
Adrenoleukodystrophy.
Engelen M, Kemp S, Eichler F. Engelen M, et al. Handb Clin Neurol. 2024;204:133-138. doi: 10.1016/B978-0-323-99209-1.00022-3. Handb Clin Neurol. 2024. PMID: 39322375 Review.
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC. Engelen M, et al. Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29. Neurology. 2022. PMID: 36175155 Free PMC article.
Peroxisomal leukodystrophy.
Engelen M. Engelen M. Handb Clin Neurol. 2024;204:139-145. doi: 10.1016/B978-0-323-99209-1.00021-1. Handb Clin Neurol. 2024. PMID: 39322376 Review.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Among authors: engelen m. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
Treatment of leukodystrophies: Advances and challenges.
Wolf NI, van der Knaap MS, Engelen M. Wolf NI, et al. Among authors: engelen m. Eur J Paediatr Neurol. 2025 May;56:46-50. doi: 10.1016/j.ejpn.2025.03.016. Epub 2025 Apr 15. Eur J Paediatr Neurol. 2025. PMID: 40279833 Free article. Review.
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.
Greene D, De Wispelaere K, Lees J, Codina-Solà M, Jensson BO, Hales E, Katrinecz A, Nieto Molina E, Pascoal S, Pfundt R, Schot R, Sevilla Porras M, Sleutels F, Valenzuela I, Wijngaard R, Arroyo Carrera I, Atton G, Casas-Alba D, Donnelly D, Duat Rodríguez A, Fernández Garoz B, Foulds N, García-Navas Núñez D, González Alguacil E, Jarvis J, Kant SG, Madrigal Bajo I, Martinez-Monseny AF, McKee S, Ortiz Cabrera NV, Rodríguez-Revenga Bodi L, Sariego Jamardo A, Stefansson K, Sulem P, Suri M, Van Karnebeek C, Vasudevan P, Vega Pajares AI, Carracedo Á, Engelen M, Lapunzina P, Morgan NP, Morte B, Rump P, Stirrups K, Tizzano EF, Barakat TS, O'Donoghue M, Pérez-Jurado LA, Freson K, Mumford AD, Turro E. Greene D, et al. Among authors: engelen m. Nat Genet. 2025 Jun;57(6):1367-1373. doi: 10.1038/s41588-025-02159-5. Epub 2025 Apr 10. Nat Genet. 2025. PMID: 40210679 Free PMC article.
Thiamazole-Associated Neuropathy.
den Besten M, Engelen M, Sas TCJ, van Trotsenburg ASP, Zwaveling-Soonawala N. den Besten M, et al. Among authors: engelen m. Thyroid. 2019 May;29(5):748-749. doi: 10.1089/thy.2018.0559. Thyroid. 2019. PMID: 30909818 No abstract available.
Peroxisomal leukoencephalopathy.
Poll-The BT, Engelen M. Poll-The BT, et al. Among authors: engelen m. Semin Neurol. 2012 Feb;32(1):42-50. doi: 10.1055/s-0032-1306385. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422205 Review.
Newborn Screening for Adrenoleukodystrophy.
Engelen M, Kemp S. Engelen M, et al. JAMA Pediatr. 2025 Apr 1;179(4):365-366. doi: 10.1001/jamapediatrics.2024.6771. JAMA Pediatr. 2025. PMID: 39928328 No abstract available.
141 results