Heckmann JM - Search Results

1

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

Jalali-Sefid-Dashti M, Nel M, Heckmann JM, Gamieldien J. Jalali-Sefid-Dashti M, et al. Among authors: heckmann jm. BMC Med Genet. 2018 Jun 7;19(1):95. doi: 10.1186/s12881-018-0613-x. BMC Med Genet. 2018. PMID: 29879922 Free PMC article.

2

Association of transforming growth factor β-1 (TGFB1) regulatory region polymorphisms with myasthenia gravis-related ophthalmoparesis.

Akinyi MV, Dandara C, Gamieldien J, Heckmann JM. Akinyi MV, et al. Among authors: heckmann jm. J Neuroimmunol. 2012 May 15;246(1-2):96-9. doi: 10.1016/j.jneuroim.2012.03.002. Epub 2012 Mar 27. J Neuroimmunol. 2012. Retraction in: J Neuroimmunol. 2014 Jun 15;271(1-2):69. doi: 10.1016/j.jneuroim.2014.04.013 PMID: 22458981 Retracted.

3

The African-387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis.

Nel M, Buys JM, Rautenbach R, Mowla S, Prince S, Heckmann JM. Nel M, et al. Among authors: heckmann jm. J Hum Genet. 2016 Apr;61(4):307-16. doi: 10.1038/jhg.2015.146. Epub 2015 Dec 3. J Hum Genet. 2016. PMID: 26632886

4

Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis.

Nel M, Jalali Sefid Dashti M, Gamieldien J, Heckmann JM. Nel M, et al. Among authors: heckmann jm. Neuromuscul Disord. 2017 Sep;27(9):816-825. doi: 10.1016/j.nmd.2017.06.009. Epub 2017 Jun 21. Neuromuscul Disord. 2017. PMID: 28673556

5

A unique subphenotype of myasthenia gravis.

Heckmann JM, Nel M. Heckmann JM, et al. Ann N Y Acad Sci. 2018 Jan;1412(1):14-20. doi: 10.1111/nyas.13471. Epub 2017 Oct 6. Ann N Y Acad Sci. 2018. PMID: 28984362 Review.

6

The functionality of African-specific variants in the TGFB1 regulatory region and their potential role in HIVAN.

Nel M, Buys JM, Botha FCJ, Wearne N, Prince S, Heckmann JM. Nel M, et al. Among authors: heckmann jm. Clin Exp Nephrol. 2018 Aug;22(4):764-772. doi: 10.1007/s10157-017-1516-4. Epub 2017 Dec 4. Clin Exp Nephrol. 2018. PMID: 29204904

7

Myasthenic ophthalmoparesis: Time To resolution after initiating immune therapies.

Europa TA, Nel M, Heckmann JM. Europa TA, et al. Among authors: heckmann jm. Muscle Nerve. 2018 Oct;58(4):542-549. doi: 10.1002/mus.26172. Epub 2018 Aug 1. Muscle Nerve. 2018. PMID: 29790193

8

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

Nel M, Prince S, Heckmann JM. Nel M, et al. Among authors: heckmann jm. Orphanet J Rare Dis. 2019 Jan 29;14(1):24. doi: 10.1186/s13023-019-1003-y. Orphanet J Rare Dis. 2019. PMID: 30696470 Free PMC article.

9

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

Nel M, Mulder N, Europa TA, Heckmann JM. Nel M, et al. Among authors: heckmann jm. Front Genet. 2019 Mar 1;10:136. doi: 10.3389/fgene.2019.00136. eCollection 2019. Front Genet. 2019. PMID: 30881381 Free PMC article.

10

C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis.

Nel M, Agenbag GM, Henning F, Cross HM, Esterhuizen A, Heckmann JM. Nel M, et al. Among authors: heckmann jm. J Neurol Sci. 2019 Jun 15;401:51-54. doi: 10.1016/j.jns.2019.04.026. Epub 2019 Apr 17. J Neurol Sci. 2019. PMID: 31009932 Free PMC article.

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