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Page 1
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.
Al-Saady M, Beerepoot S, Plug BC, Breur M, Galabova H, Pouwels PJW, Boelens JJ, Lindemans C, van Hasselt PM, Matzner U, Vanderver A, Bugiani M, van der Knaap MS, Wolf NI. Al-Saady M, et al. Among authors: van hasselt pm. Ann Clin Transl Neurol. 2023 Jul;10(7):1146-1159. doi: 10.1002/acn3.51796. Epub 2023 May 22. Ann Clin Transl Neurol. 2023. PMID: 37212343 Free PMC article.
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
Rumping L, Pouwels PJW, Wolf NI, Rehmann H, Wamelink MMC, Waisfisz Q, Jans JJM, Prinsen HCMT, van de Kamp JM, van Hasselt PM. Rumping L, et al. Among authors: van hasselt pm. JIMD Rep. 2023 Feb 24;64(3):217-222. doi: 10.1002/jmd2.12359. eCollection 2023 May. JIMD Rep. 2023. PMID: 37151363 Free PMC article.
High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.
Eskandari SK, Revenich EGM, Pot DJ, de Boer F, Bierings M, van Spronsen FJ, van Hasselt PM, Lindemans CA, Lubout CMA. Eskandari SK, et al. Among authors: van hasselt pm. N Engl J Med. 2024 Feb 15;390(7):623-629. doi: 10.1056/NEJMoa2313398. N Engl J Med. 2024. PMID: 38354141
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S. Laugwitz L, et al. Eur J Paediatr Neurol. 2024 Mar;49:141-154. doi: 10.1016/j.ejpn.2024.03.003. Epub 2024 Mar 9. Eur J Paediatr Neurol. 2024. PMID: 38554683 Free article.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
Evolutionary conservation of the fidelity of transcription.
Chung C, Verheijen BM, Navapanich Z, McGann EG, Shemtov S, Lai GJ, Arora P, Towheed A, Haroon S, Holczbauer A, Chang S, Manojlovic Z, Simpson S, Thomas KW, Kaplan C, van Hasselt P, Timmers M, Erie D, Chen L, Gout JF, Vermulst M. Chung C, et al. Nat Commun. 2023 Mar 20;14(1):1547. doi: 10.1038/s41467-023-36525-w. Nat Commun. 2023. PMID: 36941254 Free PMC article.
Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination.
Ayuso-García P, Sánchez-Rueda A, Velasco-Avilés S, Tamayo-Caro M, Ferrer-Pinós A, Huarte-Sebastian C, Alvarez V, Riobello C, Jiménez-Vega S, Buendia I, Cañas-Martin J, Fernández-Susavila H, Aparicio-Rey A, Esquinas-Román EM, Ponte CR, Guhl R, Laville N, Pérez-Andrés E, Lavín JL, González-Lopez M, Cámara NM, Aransay AM, Lozano JJ, Sutherland JD, Barrio R, Martinez-Chantar ML, Azkargorta M, Elortza F, Soriano-Navarro M, Matute C, Sánchez-Gómez MV, Bayón-Cordero L, Pérez-Samartín A, Bravo SB, Kurz T, Lama-Díaz T, Blanco MG, Haddad S, Record CJ, van Hasselt PM, Reilly MM, Varela-Rey M, Woodhoo A. Ayuso-García P, et al. Among authors: van hasselt pm. Sci Adv. 2024 Apr 12;10(15):eadm7600. doi: 10.1126/sciadv.adm7600. Epub 2024 Apr 12. Sci Adv. 2024. PMID: 38608019 Free PMC article.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM. Bhat S, et al. Among authors: van hasselt pm. Am J Hum Genet. 2024 Apr 4;111(4):761-777. doi: 10.1016/j.ajhg.2024.02.014. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503299
Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons.
van Berkel AA, Lammertse HCA, Öttl M, Koopmans F, Misra-Isrie M, Meijer M, Dilena R, van Hasselt PM, Engelen M, van Haelst M, Smit AB, van der Sluis S, Toonen RF, Verhage M. van Berkel AA, et al. Among authors: van hasselt pm. Biol Psychiatry Glob Open Sci. 2023 May 30;4(1):284-298. doi: 10.1016/j.bpsgos.2023.05.004. eCollection 2024 Jan. Biol Psychiatry Glob Open Sci. 2023. PMID: 38298782 Free PMC article.
145 results