| TLR7 gain-of-function genetic variation causes human lupus GJ Brown, PF Cañete, H Wang, A Medhavy, J Bones, JA Roco, Y He, ... Nature 605 (7909), 349-356, 2022 | 413 | 2022 |
| Hyperhomocysteinemia and neurologic disorders: a review R Ansari, A Mahta, E Mallack, JJ Luo Journal of clinical neurology (Seoul, Korea) 10 (4), 281, 2014 | 308 | 2014 |
| International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: a consensus-based approach M Engelen, WJC Van Ballegoij, EJ Mallack, KP Van Haren, W Köhler, ... Neurology 99 (21), 940-951, 2022 | 75 | 2022 |
| MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: meta‐analysis and consensus guidelines EJ Mallack, BR Turk, H Yan, C Price, M Demetres, AB Moser, C Becker, ... Journal of inherited metabolic disease 44 (3), 728-739, 2021 | 66 | 2021 |
| MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy AP Liberato, EJ Mallack, R Aziz-Bose, D Hayden, A Lauer, PA Caruso, ... Neurology 92 (15), e1698-e1708, 2019 | 62 | 2019 |
| Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy EJ Mallack, K Gao, M Engelen, S Kemp Cells 11 (2), 283, 2022 | 43 | 2022 |
| The landscape of hematopoietic stem cell transplant and gene therapy for X-linked adrenoleukodystrophy EJ Mallack, B Turk, H Yan, FS Eichler Current treatment options in neurology 21, 1-11, 2019 | 42 | 2019 |
| Clinical and radiographic course of arrested cerebral adrenoleukodystrophy EJ Mallack, S Van De Stadt, PA Caruso, PL Musolino, R Sadjadi, ... Neurology 94 (24), e2499-e2507, 2020 | 31 | 2020 |
| Practical approaches and knowledge gaps in the care for children with leukodystrophies SR Keller, EJ Mallack, JP Rubin, JA Accardo, JA Brault, CS Corre, ... Journal of child neurology 36 (1), 65-78, 2021 | 14 | 2021 |
| Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy I Weinhofer, P Rommer, A Gleiss, M Ponleitner, B Zierfuss, ... EBioMedicine 96, 2023 | 11 | 2023 |
| Pearls & Oy-sters: adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy JE Lin, EA Armour, A Heshmati, C Umandap, JJ Couto, AD Iglesias, ... Neurology 93 (2), 81-84, 2019 | 11 | 2019 |
| Presymptomatic lesion in childhood cerebral adrenoleukodystrophy: timing and treatment EJ Mallack, KP Van Haren, A Torrey, S Van De Stadt, M Engelen, ... Neurology 99 (5), e512-e520, 2022 | 10 | 2022 |
| A longitudinal analysis of early lesion growth in presymptomatic patients with cerebral adrenoleukodystrophy EJ Mallack, G Askin, S van de Stadt, PA Caruso, PL Musolino, M Engelen, ... American Journal of Neuroradiology 42 (10), 1904-1911, 2021 | 10 | 2021 |
| Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States LA Adang, JL Bonkowsky, JJ Boelens, E Mallack, R Ahrens-Nicklas, ... Cytotherapy 26 (7), 739-748, 2024 | 8 | 2024 |
| CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum EE Palmer, C Whitton, MO Hashem, RD Clark, S Ramanathan, LJ Starr, ... Clinical genetics 100 (4), 468-477, 2021 | 6 | 2021 |
| Consensus guidelines: MRI surveillance of children with presymptomatic Adrenoleukodystrophy (P4. 6-047) B Turk, E Mallack, L Adang, C Becker, F Eichler, K Van Haren, ... Neurology 92 (15_supplement), P4. 6-047, 2019 | 4 | 2019 |
| Human mutations in SLITRK3 implicated in GABAergic synapse development in mice S Efthymiou, W Han, M Ilyas, J Li, Y Yu, M Scala, NT Malintan, M Ilyas, ... Frontiers in Molecular Neuroscience 17, 1222935, 2024 | 3 | 2024 |
| Monogenic autoimmunity caused by TLR7 gain-of-function C Vinuesa, G Brown, A Medhavy, P Canete, J Ellyard, K Bassett, G Burgio, ... | 1 | 2021 |
| A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy EJ Mallack, C Wang, JS Kim, ME Ross American Journal of Medical Genetics Part A, e63790, 2024 | | 2024 |
| Seizures in the Leukodystrophies (P6-1.001) A Hackett, K Liu, H Yan, C Corre, K Gao, D Kelly, G Ghabash, J Goodman, ... Neurology 102 (17_supplement_1), 5633, 2024 | | 2024 |
Marc EngelenAmsterdam University Medical CentersE-mailová adresa ověřena na: amc.uva.nl