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Page 1
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A, Wolf NI. Asbreuk MABC, et al. Among authors: zerem a. Neurology. 2025 Jul 22;105(2):e213817. doi: 10.1212/WNL.0000000000213817. Epub 2025 Jun 27. Neurology. 2025. PMID: 40577679 Free PMC article. Review.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Adang LA, et al. Among authors: zerem a. Cytotherapy. 2024 Jul;26(7):739-748. doi: 10.1016/j.jcyt.2024.03.487. Epub 2024 Apr 1. Cytotherapy. 2024. PMID: 38613540 Free PMC article. Review.
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Zhu G, Didry-Barca B, Seabra L, Rice GI, Uggenti C, Touimy M, Rodero MP, Trapero RH, Bondet V, Duffy D, Gautier P, Livingstone K, Sutherland FJH, Lebon P, Parisot M, Bole-Feysot C, Masson C, Cagnard N, Nitschké P, Anderson G, Assmann B, Barth M, Boespflug-Tanguy O, D'Arco F, Dorboz I, Giese T, Hacohen Y, Hancarova M, Husson M, Lepine A, Lim M, Mancardi MM, Melki I, Neubauer D, Sa M, Sedlacek Z, Seitz A, Rottman MS, Sanquer S, Straussberg R, Vlčková M, Villéga F, Wagner M, Zerem A, Marsh JA, Frémond ML, Kaliakatsos M, Crow YJ, El-Daher MT, Lepelley A. Zhu G, et al. Among authors: zerem a. Lancet Neurol. 2025 Mar;24(3):218-229. doi: 10.1016/S1474-4422(24)00526-X. Lancet Neurol. 2025. PMID: 39986310 Free PMC article.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE. Stamberger H, et al. Among authors: zerem a. Genet Med. 2021 Feb;23(2):363-373. doi: 10.1038/s41436-020-00988-9. Epub 2020 Nov 4. Genet Med. 2021. PMID: 33144681 Free article.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: zerem a. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
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. Among authors: zerem a. 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.
A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.
Saleh MA, Boichuck M, Ottolenghi A, Rabinski T, Goldenthal O, Sanchez DS, Fattal-Valevski A, Heimer G, Ben-Shachar S, Libzon S, Gershoni-Yahalom O, Ben-Zvi A, Zarivach R, Zerem A, Rosental B, Vatine GD. Saleh MA, et al. Among authors: zerem a. Int J Mol Sci. 2025 Jun 24;26(13):6037. doi: 10.3390/ijms26136037. Int J Mol Sci. 2025. PMID: 40649816 Free PMC article.
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Schoenmakers DH, Asbreuk MABC, Martin T, Datema M, Beerepoot S, Inbar-Feigenberg M, Groeschel S, Kehrer C, Øberg A, Sevin C, Fumagalli F, Bergner CG, Vieira P, Bley A, Uusimaa J, Horn MA, Brožová K, Stögmann E, Pichler H, Lüftinger R, Eklund EA, Mochel F, Adang LA, Laugwitz L, Boelens JJ, Calbi V, Darling A, García-Cazorla Á, Grønborg SW, Lindemans CA, van Hasselt PM, Hollak CEM, de Koning TJ, Ram D, Dekker H, Schöls L, Zerem A, Graessner H, Wolf NI. Schoenmakers DH, et al. Among authors: zerem a. Eur J Paediatr Neurol. 2025 Jul;57:72-81. doi: 10.1016/j.ejpn.2025.05.012. Epub 2025 May 29. Eur J Paediatr Neurol. 2025. PMID: 40482356 Free article.
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.
Eskin-Schwartz M, Seraidy S, Paz E, Molhem M, Ranza E, Antonarakis SE, Blanc X, Herman K, Benko WS, Libzon S, Ben Sira L, Fattal-Valevski A, Dolgin V, Birk OS, Kessel A, Bross P, Weiss C, Azem A, Zerem A. Eskin-Schwartz M, et al. Among authors: zerem a. J Med Genet. 2024 Dec 31;62(1):15-24. doi: 10.1136/jmg-2024-109862. J Med Genet. 2024. PMID: 39500555
Metabolic stroke in a patient with bi-allelic OPA1 mutations.
Zerem A, Yosovich K, Rappaport YC, Libzon S, Blumkin L, Ben-Sira L, Lev D, Lerman-Sagie T. Zerem A, et al. Metab Brain Dis. 2019 Aug;34(4):1043-1048. doi: 10.1007/s11011-019-00415-2. Epub 2019 Apr 10. Metab Brain Dis. 2019. PMID: 30972688
41 results