Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Jeannine M Heckmann"'
Autor:
Amokelani C. Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A. Wilson, Jana Vandrovcova, Mary M. Reilly, Christopher J. Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M. Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M. Heckmann
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionLimited diagnostics are available for inherited neuromuscular diseases (NMD) in South Africa and (excluding muscle disease) are mainly aimed at the most frequent genes underlying genetic neuropathy (GN) and spastic ataxias in Europeans. I
Externí odkaz:
https://doaj.org/article/3354b92f98f0463d9b4728d5c6661a56
Publikováno v:
IBRO Neuroscience Reports, Vol 12, Iss , Pp 297-302 (2022)
Myasthenia gravis (MG) is a rare, treatable, antibody-mediated disease characterized by fatigable muscle weakness of extraocular muscles (EOMs) and non-ocular skeletal muscles. The antibodies are directed against muscle-endplate proteins, most freque
Externí odkaz:
https://doaj.org/article/78cfb78e75534698af2accc3635b4e03
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Genetic investigations of inherited neuromuscular disorders in Africans, have been neglected. We aimed to summarise the published data and comment on the genetic evidence related to inherited neuropathies (Charcot-Marie-Tooth dise
Externí odkaz:
https://doaj.org/article/263b03ca63a244eb908578f1a14993c3
Autor:
Melissa Nel, Thandeka Mavundla, Kayleigh Gultig, Gerrit Botha, Nicola Mulder, Michael Benatar, Joanne Wuu, Anne Cooley, Jason Myers, Evadnie Rampersaud, Gang Wu, Jeannine M. Heckmann
Publikováno v:
IBRO Neuroscience Reports, Vol 10, Iss , Pp 130-135 (2021)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized primarily by progressive loss of motor neurons. Although ALS occurs worldwide and the frequency and spectrum of identifiable genetic causes of disease varies acros
Externí odkaz:
https://doaj.org/article/7d7a8a72cbc44b15b816fdc896c87212
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Unbiased in silico approaches applied to genome-wide data prioritized putative functional gene variants associating with treatment-resistant ophthalmoplegic myasthenia gravis (OP-MG). Although altered expression of genes harbourin
Externí odkaz:
https://doaj.org/article/18514b1a789c45b79bba56490c25657e
Autor:
Alvin Pumelele Ndondo, Brian Eley, Jo Madeleine Wilmshurst, Angelina Kakooza-Mwesige, Maria Pia Giannoccaro, Hugh J. Willison, Pedro M. Rodríguez Cruz, Jeannine M. Heckmann, Kathleen Bateman, Angela Vincent
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The direct impact and sequelae of infections in children and adults result in significant morbidity and mortality especially when they involve the central (CNS) or peripheral nervous system (PNS). The historical understanding of the pathophysiology h
Externí odkaz:
https://doaj.org/article/6d9db6cfecbd47d2b23a886c4085b118
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Myasthenia gravis (MG) appears to have a similar incidence among adult populations worldwide. However, epidemiological and phenotypic differences have been noted among children and juveniles with MG. We reviewed the literature on childhood- and juven
Externí odkaz:
https://doaj.org/article/d4f981c5e799425a934ea0468a7043ad
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background While extraocular muscles are affected early in myasthenia gravis (MG), but respond to treatment, we observe a high incidence of treatment-resistant ophthalmoplegia (OP-MG) among MG subjects with African genetic ancestry. Previous
Externí odkaz:
https://doaj.org/article/674885b6003e4adbb76745d40c83395b
Management Issues in Myasthenia Gravis Patients Living With HIV: A Case Series and Literature Review
Autor:
Jeannine M. Heckmann, Suzaan Marais
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
South Africa is home to more than seven million people living with human immunodeficiency virus (HIV) and a high prevalence of tuberculosis. Human immunodeficiency virus–infected individuals may develop myasthenia gravis (MG), which raises question
Externí odkaz:
https://doaj.org/article/56e7b8a0b6c24a37921a7e28cd578b7d
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
Abstract Background We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienced severe unexpected
Externí odkaz:
https://doaj.org/article/371d0e98f6ec496a972fec088c5448ef