| Myasthenic ophthalmoparesis: time to resolution after initiating immune therapies TA Europa, M Nel, JM Heckmann Muscle & Nerve 58 (4), 542-549, 2018 | 37 | 2018 |
| A review of the histopathological findings in myasthenia gravis: clues to the pathogenesis of treatment-resistance in extraocular muscles TA Europa, M Nel, JM Heckmann Neuromuscular Disorders 29 (5), 381-387, 2019 | 27 | 2019 |
| A unique subphenotype of myasthenia gravis JM Heckmann, M Nel Annals of the New York Academy of Sciences 1412 (1), 14-20, 2018 | 27 | 2018 |
| Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group A Lumaka, N Carstens, K Devriendt, A Krause, B Kulohoma, J Kumuthini, ... Orphanet Journal of Rare Diseases 17 (1), 230, 2022 | 23 | 2022 |
| C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis M Nel, GM Agenbag, F Henning, HM Cross, A Esterhuizen, JM Heckmann Journal of the neurological sciences 401, 51-54, 2019 | 20 | 2019 |
| The African− 387 C> T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis M Nel, JM Buys, R Rautenbach, S Mowla, S Prince, JM Heckmann Journal of human genetics 61 (4), 307-316, 2016 | 18 | 2016 |
| Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis M Nel, MJS Dashti, J Gamieldien, JM Heckmann Neuromuscular Disorders 27 (9), 816-825, 2017 | 15 | 2017 |
| Using whole genome sequencing in an African subphenotype of myasthenia gravis to generate a pathogenetic hypothesis M Nel, N Mulder, TA Europa, JM Heckmann Frontiers in genetics 10, 436305, 2019 | 14 | 2019 |
| Revealing the mutational spectrum in Southern Africans with amyotrophic lateral sclerosis M Nel, AC Mahungu, N Monnakgotla, GR Botha, NJ Mulder, G Wu, ... Neurology: Genetics 8 (1), e654, 2022 | 13 | 2022 |
| Profiling of patient-specific myocytes identifies altered gene expression in the ophthalmoplegic subphenotype of myasthenia gravis M Nel, S Prince, JM Heckmann Orphanet Journal of Rare Diseases 14, 1-11, 2019 | 12 | 2019 |
| The epidemiology and phenotypes of ocular manifestations in childhood and juvenile myasthenia gravis: A review JM Heckmann, TA Europa, AJ Soni, M Nel Frontiers in neurology 13, 834212, 2022 | 10 | 2022 |
| Altered expression of proteoglycan, collagen and growth factor genes in a TGF-β1 stimulated genetic risk model for musculoskeletal soft tissue injuries K Willard, MJN Laguette, LA de Souza Rios, C D’Alton, M Nel, S Prince, ... Journal of Science and Medicine in Sport 23 (8), 695-700, 2020 | 10 | 2020 |
| Jalali Sefid Dashti M, Gamieldien J, Heckmann JM. Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis M Nel Neuromuscul Disord 27 (9), 816-25, 2017 | 9 | 2017 |
| Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans M Nel, T Mavundla, K Gultig, G Botha, N Mulder, M Benatar, J Wuu, ... IBRO Neuroscience Reports 10, 130-135, 2021 | 8 | 2021 |
| Epidemiology and genetics of myasthenia gravis M Nel, JM Heckmann Myasthenia Gravis and Related Disorders, 71-84, 2018 | 8 | 2018 |
| Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis TA Europa, M Nel, JM Heckmann Orphanet journal of rare diseases 15, 1-12, 2020 | 6 | 2020 |
| Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers M Jalali-Sefid-Dashti, M Nel, JM Heckmann, J Gamieldien BMC medical genetics 19, 1-6, 2018 | 6 | 2018 |
| A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans AC Mahungu, N Monnakgotla, M Nel, JM Heckmann Orphanet Journal of Rare Diseases 17 (1), 133, 2022 | 5 | 2022 |
| Myasthenia Gravis and Related Disorders A Marx, P Ströbel, CA Weis Myasthenia Gravis and Related Disorders, 2018 | 5 | 2018 |
| Clinical testing panels for ALS: global distribution, consistency, and challenges AA Dilliott, A Al Nasser, M Elnagheeb, J Fifita, L Henden, IM Keseler, ... Amyotrophic lateral sclerosis and frontotemporal degeneration 24 (5-6), 420-435, 2023 | 4 | 2023 |
