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Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.
Neuromuscul Disord. 2024 Jan;34:49-53. doi: 10.1016/j.nmd.2023.11.012. Epub 2023 Dec 6.
Neuromuscul Disord. 2024.
PMID: 38150892
Characterization of the Moroccan Barley Germplasm Preserved in the Polish Genebank as a First Step towards Selecting Forms with Increased Drought Tolerance.
Boczkowska M, Puchta-Jasińska M, Bolc P, Moskal K, Puła S, Motor A, Bączek K, Groszyk J, Podyma W.
Boczkowska M, et al. Among authors: pula s.
Int J Mol Sci. 2023 Nov 15;24(22):16350. doi: 10.3390/ijms242216350.
Int J Mol Sci. 2023.
PMID: 38003539
Free PMC article.
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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, Gómez-Carballa A, Rivero-Calle I, Martinón-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultström M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A; COVID-19 Host Genetics Initiative; DeCOI Host Genetics Group; GEN-COVID Multicenter Study (Italy); …
See abstract for full author list ➔
Butler-Laporte G, et al. Among authors: pula s.
PLoS Genet. 2022 Nov 3;18(11):e1010367. doi: 10.1371/journal.pgen.1010367. eCollection 2022 Nov.
PLoS Genet. 2022.
PMID: 36327219
Free PMC article.
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A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency.
Pula S, Urankar K, Norman A, Pierre G, Langton-Hewer S, Selby V, Mason F, Vijayakumar K, McFarland R, Taylor RW, Majumdar A.
Pula S, et al.
Neuromuscul Disord. 2020 Feb;30(2):159-164. doi: 10.1016/j.nmd.2019.11.014. Epub 2019 Dec 1.
Neuromuscul Disord. 2020.
PMID: 32005493
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Delineation of the movement disorders associated with FOXG1 mutations.
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA.
Papandreou A, et al. Among authors: pula s.
Neurology. 2016 May 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30.
Neurology. 2016.
PMID: 27029630
Free PMC article.
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Photovoice as community-based participatory research: a qualitative review.
Hergenrather KC, Rhodes SD, Cowan CA, Bardhoshi G, Pula S.
Hergenrather KC, et al. Among authors: pula s.
Am J Health Behav. 2009 Nov-Dec;33(6):686-98. doi: 10.5993/ajhb.33.6.6.
Am J Health Behav. 2009.
PMID: 19320617
Review.
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