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122 results

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Page 1
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: vandrovcova j. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
Macken WL, Falabella M, Pizzamiglio C, Woodward CE, Scotchman E, Chitty LS, Polke JM, Bugiardini E, Hanna MG, Vandrovcova J, Chandler N, Labrum R, Pitceathly RDS. Macken WL, et al. Among authors: vandrovcova j. Expert Rev Mol Diagn. 2023 Jul-Dec;23(9):797-814. doi: 10.1080/14737159.2023.2241365. Epub 2023 Aug 29. Expert Rev Mol Diagn. 2023. PMID: 37642407 Review.
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Bisschoff M, Smuts I, Dercksen M, Schoonen M, Vorster BC, van der Watt G, Spencer C, Naidu K, Henning F, Meldau S, McFarland R, Taylor RW, Patel K, Fassad MR, Vandrovcova J; ICGNMD Consortium; Wanders RJA, van der Westhuizen FH. Bisschoff M, et al. Among authors: vandrovcova j. Orphanet J Rare Dis. 2024 Jan 14;19(1):15. doi: 10.1186/s13023-023-03014-8. Orphanet J Rare Dis. 2024. PMID: 38221620 Free PMC article.
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Cossée M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW, Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Among authors: vandrovcova j. Brain. 2024 Nov 4;147(11):3681-3689. doi: 10.1093/brain/awae193. Brain. 2024. PMID: 38884572
Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.
Henning F, Naidu K, Record CJ, Dominik N, Vandrovcova J, Lubbe F, Dercksen M; ICGNMD Consortium; Wilson LA, Van Der Westhuizen F, Reilly MM, Houlden H, Hanna MG, Carr J. Henning F, et al. Among authors: vandrovcova j. Mov Disord Clin Pract. 2024 Oct;11(10):1298-1300. doi: 10.1002/mdc3.14178. Epub 2024 Aug 2. Mov Disord Clin Pract. 2024. PMID: 39092477 Free PMC article. No abstract available.
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.
Gao F, Schon KR, Vandrovcova J, Wilson L, Hanna MG; ICGNMD Consortium; Çavdarlı B, Heckmann J, Chinnery PF, Horvath R. Gao F, et al. Among authors: vandrovcova j. Ann Clin Transl Neurol. 2024 Aug 2. doi: 10.1002/acn3.52141. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 39095335 Free article.
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Falabella M, Pizzamiglio C, Tabara LC, Munro B, Abdel-Hamid MS, Sonmezler E, Macken WL, Lu S, Tilokani L, Flannery PJ, Patel N, Pope SAS, Heales SJR, Hammadi DBH, Alston CL, Taylor RW, Lochmuller H, Woodward CE, Labrum R, Vandrovcova J, Houlden H, Chronopoulou E, Pierre G, Maroofian R, Hanna MG, Taanman JW, Hiz S, Oktay Y, Zaki MS, Horvath R, Prudent J, Pitceathly RDS. Falabella M, et al. Among authors: vandrovcova j. Brain. 2024 Aug 30:awae268. doi: 10.1093/brain/awae268. Online ahead of print. Brain. 2024. PMID: 39279645
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Frezatti RSS, Tomaselli PJ, Record CJ, Wilson LA, Alves GM, Dominik N, Efthymiou S, Patel K, Vandrovcova J, Männikkö R, Pitceathly RDS, Sobreira CFDR, McFarland R, Taylor RW, Houlden H, Hanna MG, Reilly MM, Marques W. Frezatti RSS, et al. Among authors: vandrovcova j. Brain Commun. 2024 Nov 14;6(6):fcae342. doi: 10.1093/braincomms/fcae342. eCollection 2024. Brain Commun. 2024. PMID: 39544699 Free PMC article.
122 results