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Page 1
Clinical practice.
Bhorat I, Buchmann E, Frank K, Soma-Pillay P, Nicolaou E, Pistorius L, Smuts I. Bhorat I, et al. Among authors: smuts i. S Afr Med J. 2023 Sep 4;113(9):22-24. doi: 10.7196/SAMJ.2023.v113i9.1063. S Afr Med J. 2023. PMID: 37882127 Free article.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: smuts i. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Among authors: smuts i. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
Right of Reply.
Andronikou S, Lotz JW, Bhorat I, Buchamann E, Soma-Pillay P, Nicolaou E, Pistorius L, Smuts I. Andronikou S, et al. Among authors: smuts i. S Afr Med J. 2022 Aug 1;112(8):506-508. doi: 10.7196/SAMJ.2022.v112i8.16702. S Afr Med J. 2022. PMID: 36214404
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.
Gao F, Schon KR, Vandrovcova J, Köken ÖY, Raga S, Naidu K, Schoonen M, Rani N, Tomaselli P, Baskar D, Kapapa M, Polat I, Wilson LA, Thangaraj K, Yiş U, Nandeesh BN, Bearden D, Kvalsund M, Henning F, Vengalil S, Nalini A, Sobreira CFR, Marques W, Topoloğlu H, Hanna MG, Yareeda S, Vishnu VY, van der Westhuizen FH, Smuts I, Meldau S, Wilmshurst J, Çavdarlı B, Heckmann J, Chinnery PF, Horvath R. Gao F, et al. Among authors: smuts i. Ann Clin Transl Neurol. 2025 Aug;12(8):1680-1688. doi: 10.1002/acn3.52141. Epub 2024 Aug 2. Ann Clin Transl Neurol. 2025. PMID: 39095335 Free PMC article.
International Paediatric Mitochondrial Disease Scale.
Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung CW, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM. Koene S, et al. Among authors: smuts i. J Inherit Metab Dis. 2016 Sep;39(5):705-712. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9. J Inherit Metab Dis. 2016. PMID: 27277220 Free PMC article.
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.
Schoonen M, Fassad M, Patel K, Bisschoff M, Vorster A, Makwikwi T, Human R, Lubbe E, Nonyane M, Vorster BC, Vandrovcova J, Hanna MG, Taylor RW, McFarland R, Wilson LA, van der Westhuizen FH, Smuts I. Schoonen M, et al. Among authors: smuts i. Eur J Hum Genet. 2025 Apr;33(4):421-431. doi: 10.1038/s41431-025-01795-z. Epub 2025 Feb 18. Eur J Hum Genet. 2025. PMID: 39966651 Free PMC article.
30 results