Profiling of patient-specific myocytes identifies altered gene expression in the ophthalmoplegic subphenotype of myasthenia gravis

por Nel, Melissa, Prince, Sharon, Heckmann, Jeannine M.
Publicado 2019

Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis

por Europa, Tarin A., Nel, Melissa, Heckmann, Jeannine M.
Publicado 2020

Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis

por Nel, Melissa, Mulder, Nicola, Europa, Tarin A., Heckmann, Jeannine M.
Publicado 2019

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans

por Mahungu, Amokelani C., Monnakgotla, Nomakhosazana, Nel, Melissa, Heckmann, Jeannine M.
Publicado 2022

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

por Jalali-Sefid-Dashti, Mahjoubeh, Nel, Melissa, Heckmann, Jeannine M., Gamieldien, Junaid
Publicado 2018

The Epidemiology and Phenotypes of Ocular Manifestations in Childhood and Juvenile Myasthenia Gravis: A Review

por Heckmann, Jeannine M., Europa, Tarin A., Soni, Aayesha J., Nel, Melissa
Publicado 2022

Mitochondrial bioenergetics in ocular fibroblasts of two myasthenia gravis cases

por Europa, Tarin A., Nel, Melissa, Lebeko, Maribanyana R., Heckmann, Jeannine M.
Publicado 2022

Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans

por Nel, Melissa, Mavundla, Thandeka, Gultig, Kayleigh, Botha, Gerrit, Mulder, Nicola, Benatar, Michael, Wuu, Joanne, Cooley, Anne, Myers, Jason, Rampersaud, Evadnie, Wu, Gang, Heckmann, Jeannine M.
Publicado 2021

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

por Lumaka, Aimé, Carstens, Nadia, Devriendt, Koenraad, Krause, Amanda, Kulohoma, Benard, Kumuthini, Judit, Mubungu, Gerrye, Mukisa, John, Nel, Melissa, Olanrewaju, Timothy O., Lombard, Zané, Landouré, Guida
Publicado 2022

Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans

por Monnakgotla, Nomakhosazana R., Mahungu, Amokelani C., Heckmann, Jeannine M., Botha, Gerrit, Mulder, Nicola J., Wu, Gang, Rampersaud, Evadnie, Myers, Jason, Van Blitterswijk, Marka, Rademakers, Rosa, Taylor, J. Paul, Wuu, Joanne, Benatar, Michael, Nel, Melissa
Publicado 2023

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia

por Mahungu, Amokelani C., Steyn, Elizabeth, Floudiotis, Niki, Wilson, Lindsay A., Vandrovcova, Jana, Reilly, Mary M., Record, Christopher J., Benatar, Michael, Wu, Gang, Raga, Sharika, Wilmshurst, Jo M., Naidu, Kireshnee, Hanna, Michael, Nel, Melissa, Heckmann, Jeannine M.
Publicado 2023

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

por Nel, Melissa, Mahungu, Amokelani C., Monnakgotla, Nomakhosazana, Botha, Gerrit R., Mulder, Nicola J., Wu, Gang, Rampersaud, Evadnie, van Blitterswijk, Marka, Wuu, Joanne, Cooley, Anne, Myers, Jason, Rademakers, Rosa, Taylor, J. Paul, Benatar, Michael, Heckmann, Jeannine M.
Publicado 2022

Neuromuscular disease genetics in under-represented populations: increasing data diversity

por Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo S S, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, M V Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G
Publicado 2023