-
Acute transcutaneous CO2 exposure: A feasibility study for the future investigation of CO2-specific exercise adaptations. J Physiol Sci. 2025 Jul; 75(2):100021.
Thompson KMA, Bendell A, Burr JF. PMID: 40250329; PMCID: PMC12302484.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Electrical Muscle Stimulation With or Without Blood Flow Restriction Does Not Prevent the Impairment in Glycemic Control After 1 Week of Physical Inactivity. Scand J Med Sci Sports. 2025 Apr; 35(4):e70056.
Pignanelli C, Robertson AA, Handy RM, Bommarito JC, Cheung CP, Thompson KMA, Grigore MM, Lydiate GC, Turetskiy K, More M, McCrone JC, Hinks A, Power GA, Burr JF. PMID: 40259490.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency. Am J Hum Genet. 2025 Apr 03; 112(4):952-962.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Mancilar H, Tumer S, Esen FN, Uctepe E, Topcu V, Yesilyurt A, Afzal E, Salari M, Carroll C, Zifarelli G, Bauer P, Kor D, Bulut FD, Houlden H, Maroofian R, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. PMID: 40043708; PMCID: PMC12081275.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCells
-
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype. Am J Hum Genet. 2025 Jan 02; 112(1):59-74.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H, DDD Study, Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. PMID: 39701103; PMCID: PMC11739875.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCells
-
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment. Brain Commun. 2025; 7(1):fcae453.
Kaiyrzhanov R, Thompson K, Efthymiou S, Mukushev A, Zharylkassyn A, Prasad C, Ghayoor Karimiani E, Alvi JR, Niyazov D, Alahmad A, Babaei M, Tajsharghi H, Albash B, Alaqeel A, Charif M, Hashemi N, Heidari M, Kalantar SM, Lenaers G, Vahidi Mehrjardi MY, Srinivasan VM, Gowda VK, Mirabutalebi SH, Carere DA, Movahedinia M, Murphy D, McFarland R, Abdel-Hamid MS, Elhossini RM, Alavi S, Napier M, Belanger-Quintana A, Prasad AN, Jakobczyk J, Roubertie A, Rupar T, Sultan T, Toosi MB, Sazanov L, Severino M, Houlden H, Taylor RW, Maroofian R. PMID: 39963288; PMCID: PMC11832047.
View in:
PubMed Mentions:
1
-
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency. medRxiv. 2024 Oct 11.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. PMID: 39417135; PMCID: PMC11483032.
View in:
PubMed Mentions:
-
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype. medRxiv. 2024 Aug 21.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O' Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H, DDD Study, Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. PMID: 39371131; PMCID: PMC11451657.
View in:
PubMed Mentions:
-
Assessing Leg Blood Flow and Cardiac Output During Running Using Thermodilution. Scand J Med Sci Sports. 2024 Aug; 34(8):e14705.
Leahy MG, Thompson KMA, Skattebo Ø, de Paz JA, Martin-Rincon M, Garcia-Gonzalez E, Galvan-Alvarez V, Boushel R, Hallén J, Burr JF, Calbet JAL. PMID: 39056564.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Blood Flow-Restricted Training and Time Trial Performance: A Cohort Study of World-Class Rowers. Med Sci Sports Exerc. 2024 Sep 01; 56(9):1606-1614.
Thompson KMA, Pethick WA, Clarke J, Winegarden A, Johnson E, Coates AM, Stellingwerff T, Burr JF. PMID: 38619968.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Investigating the Relevance of Maximal Speed and Acceleration in Varsity-Level Female Ice Hockey Players. Int J Sports Physiol Perform. 2024 May 01; 19(5):496-504.
Gamble ASD, Thompson KMA, Bigg JL, Pignanelli C, Spriet LL, Burr JF. PMID: 38503279.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Altered carbohydrate oxidation during exercise in overreached endurance athletes is applicable to training monitoring with continuous glucose monitors. Scand J Med Sci Sports. 2024 Jan; 34(1):e14551.
Coates AM, Thompson KMA, Grigore MM, Baker RE, Pignanelli C, Robertson AA, Frangos SM, Cheung CP, Burr JF. PMID: 38093477.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Exposure to air pollution as an environmental determinant of how Sjögren's disease is expressed at diagnosis. Clin Exp Rheumatol. 2023 12; 41(12):2448-2457.
Brito-Zerón P, Flores-Chávez A, Ng WF, Fanny Horváth I, Rasmussen A, Priori R, Baldini C, Armagan B, Özkiziltas B, Praprotnik S, Suzuki Y, Quartuccio L, Hernandez-Molina G, Abacar K, Bartoloni E, Rischmueller M, Reis-de Oliveira F, Fernandes Moça Trevisani V, Jurcut C, Fugmann C, Carubbi F, Hofauer B, Valim V, Pasoto SG, Retamozo S, Atzeni F, Fonseca-Aizpuru E, López-Dupla M, Giacomelli R, Nakamura H, Akasbi M, Thompson K, Szántó A, Farris AD, Villa M, Bombardieri S, Kilic L, Tufan A, Perdan Pirkmajer K, Fujisawa Y, de Vita S, Inanc N, Ramos-Casals M, Sjögren Big Data Consortium. PMID: 38019154.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansPHPublic Health
-
Influence of exposure to climate-related hazards in the phenotypic expression of primary Sjögren's syndrome. Clin Exp Rheumatol. 2023 12; 41(12):2437-2447.
Flores-Chávez A, Brito-Zerón P, Ng WF, Szántó A, Rasmussen A, Priori R, Baldini C, Armagan B, Özkiziltas B, Praprotnik S, Suzuki Y, Quartuccio L, Hernández-Molina G, Inanc N, Bartoloni E, Rischmueller M, Reis-de Oliveira F, Fernandes Moça Trevisani V, Jurcut C, Nordmark G, Carubbi F, Hofauer B, Valim V, Pasoto SG, Retamozo S, Atzeni F, Fonseca-Aizpuru E, López-Dupla M, Giacomelli R, Nakamura H, Akasbi M, Thompson K, Fanny Horváth I, Farris AD, Simoncelli E, Bombardieri S, Kilic L, Tufan A, Perdan Pirkmajer K, Fujisawa Y, De Vita S, Abacar K, Ramos-Casals M, Sjögren Big Data Consortium. PMID: 38019164.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Cardiovascular responses to combined mechanoreflex and metaboreflex activation in healthy adults: effects of sex and low- versus high-hormone phases in females. J Appl Physiol (1985). 2023 11 01; 135(5):1102-1114.
Lee JB, Thompson KMA, Teixeira AL, Burr JF, Millar PJ. PMID: 37795529.
View in:
PubMed Mentions:
4 Fields:
Translation:
Humans
-
Impact of Blood Flow Restriction Exercise on Central Hemodynamics and Fluid Regulating Hormones. Med Sci Sports Exerc. 2024 Feb 01; 56(2):362-369.
Thompson KMA, Gamble ASD, Coates AM, Burr JF. PMID: 37735813.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
EPOtential target for endurance performance: the effect of exogenous ketone supplementation on circulating erythropoietin levels. J Physiol. 2023 09; 601(18):3991-3992.
Robertson AA, Lynagh BM, Thompson KMA, McCarthy DG. PMID: 37566813.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54. Eur J Hum Genet. 2023 10; 31(10):1190-1194.
Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT. PMID: 37558808; PMCID: PMC10545766.
View in:
PubMed Mentions:
3 Fields:
Translation:
Humans
-
Phenotypic continuum of NFU1-related disorders. Ann Clin Transl Neurol. 2022 Dec; 9(12):2025-2035.
Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M, Sayin GY, Hilander T, Efthymiou S, Chelban V, Brown R, Thompson K, Scarano MI, Ganesh J, Koneev K, Gülaçar IM, Person R, Sadykova D, Maidyrov Y, Seifi T, Zadagali A, Bernard G, Allis K, Elloumi HZ, Lindy A, Taghiabadi E, Verma S, Logan R, Kirmse B, Bai R, Khalaf SM, Abdel-Hamid MS, Sedaghat A, Shariati G, Issa M, Zeighami J, Elbendary HM, Brown G, Taylor RW, Galehdari H, Gleeson JJ, Carroll CJ, Cowan JA, Moreno-De-Luca A, Houlden H, Maroofian R. PMID: 36256512; PMCID: PMC9735368.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
The physiology of failure: Identifying risk factors for mortality in emergency general surgery patients using a regional health system integrated electronic medical record. J Trauma Acute Care Surg. 2022 09 01; 93(3):409-417.
Baimas-George M, Ross SW, Hetherington T, Kowalkowski M, Wang H, Thompson K, Cunningham K, Matthews BD, May AK, Reinke CE. PMID: 35998289.
View in:
PubMed Mentions: Fields:
Translation:
HumansPHPublic Health
-
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease. HGG Adv. 2022 Apr 14; 3(2):100097.
Thompson K, Bianchi L, Rastelli F, Piron-Prunier F, Ayciriex S, Besmond C, Hubert L, Barth M, Barbosa IA, Deshpande C, Chitre M, Mehta SG, Wever EJM, Marcorelles P, Donkervoort S, Saade D, Bönnemann CG, Chao KR, Cai C, Iannaccone ST, Dean AF, McFarland R, Vaz FM, Delahodde A, Taylor RW, Rötig A. PMID: 35321494; PMCID: PMC8935507.
View in:
PubMed Mentions:
8 Fields:
-
Relationship of Fitness Combine Results and National Hockey League Performance: A 25-Year Analysis. Int J Sports Physiol Perform. 2022 Jun 01; 17(6):908-916.
Cohen JN, Thompson KMA, Jamnik VK, Gledhill N, Burr JF. PMID: 35245896.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. EMBO Mol Med. 2021 12 07; 13(12):e14397.
Vidali S, Gerlini R, Thompson K, Urquhart JE, Meisterknecht J, Aguilar-Pimentel JA, Amarie OV, Becker L, Breen C, Calzada-Wack J, Chhabra NF, Cho YL, da Silva-Buttkus P, Feichtinger RG, Gampe K, Garrett L, Hoefig KP, Hölter SM, Jameson E, Klein-Rodewald T, Leuchtenberger S, Marschall S, Mayer-Kuckuk P, Miller G, Oestereicher MA, Pfannes K, Rathkolb B, Rozman J, Sanders C, Spielmann N, Stoeger C, Szibor M, Treise I, Walter JH, Wurst W, Mayr JA, Fuchs H, Gärtner U, Wittig I, Taylor RW, Newman WG, Prokisch H, Gailus-Durner V, Hrabe de Angelis M. PMID: 34750991; PMCID: PMC8649870.
View in:
PubMed Mentions:
10 Fields:
Translation:
HumansAnimals
-
In Response to: Risk of Muscle Damage With Blood Flow-Restricted Exercise Should Not Be Overlooked. Clin J Sport Med. 2021 11 01; 31(6):e512-e513.
Thompson KMA, Burr JF. PMID: 32941382.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations. Am J Hum Genet. 2021 11 04; 108(11):2195-2204.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W, Genomics England Research Consortium, Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. PMID: 34715011; PMCID: PMC8595931.
View in:
PubMed Mentions:
34 Fields:
Translation:
HumansCells
-
Overcoming Microsurgical Anastomotic Challenges in Supercharged Pedicled Jejunal Interposition for Pediatric Esophageal Reconstruction. Plast Reconstr Surg Glob Open. 2021 Aug; 9(8):e3780.
Yu JW, Wong FK, Thompson KM, Aycart MA, Francis A, Labow BI, Upton J, Taghinia AH. PMID: 34667706; PMCID: PMC8517309.
View in:
PubMed Mentions:
-
Predictors of anti-reflux procedure failure in complex esophageal atresia patients. J Pediatr Surg. 2022 Jul; 57(7):1321-1330.
Thompson K, Zendejas B, Kamran A, Svetanoff WJ, Meisner J, Zurakowski D, Staffa SJ, Ngo P, Manfredi M, Yasuda JL, Jennings RW, Smithers CJ, Hamilton TE. PMID: 34509283.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansAnimals
-
Common Susceptibility Loci for Male Breast Cancer. J Natl Cancer Inst. 2021 04 06; 113(4):453-461.
Maguire S, Perraki E, Tomczyk K, Jones ME, Fletcher O, Pugh M, Winter T, Thompson K, Cooke R, kConFab Consortium, Trainer A, James P, Bojesen S, Flyger H, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Silvestri V, Hollestelle A, Hooning MJ, Novakovic S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Saloustros E, Georgoulias V, Easton DF, Pharoah P, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Ashworth A, Garcia Closas M, Houlston R, Swerdlow A, Orr N. PMID: 32785646; PMCID: PMC8023850.
View in:
PubMed Mentions:
14 Fields:
Translation:
Humans
-
Evolution, lessons learned, and contemporary outcomes of esophageal replacement with jejunum for children. Surgery. 2021 07; 170(1):114-125.
Thompson K, Zendejas B, Svetanoff WJ, Labow B, Taghinia A, Ganor O, Manfredi M, Ngo P, Smithers CJ, Hamilton TE, Jennings RW. PMID: 33812755.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
-
Moderate Load Resisted Sprints Do Not Improve Subsequent Sprint Performance in Varsity-Level Sprinters. J Strength Cond Res. 2021 Jan 01; 35(1):72-77.
Thompson KMA, Whinton AK, Ferth S, Spriet LL, Burr JF. PMID: 29570579.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Off-Ice Resisted Sprints Best Predict All-Out Skating Performance in Varsity Hockey Players. J Strength Cond Res. 2022 Sep 01; 36(9):2597-2601.
Thompson KMA, Safadie A, Ford J, Burr JF. PMID: 33136771.
View in:
PubMed Mentions:
8 Fields:
Translation:
Humans
-
Repeated Application of a Novel Creatine Cream Improves Muscular Peak and Average Power in Male Subjects. J Strength Cond Res. 2020 Sep; 34(9):2482-2491.
Whinton AK, Donahoe K, Gao R, Thompson KMA, Aubry R, Saunders TJ, Johnston A, Chilibeck PD, Burr JF. PMID: 32865944.
View in:
PubMed Mentions: Fields:
Translation:
Humans
-
Development of transfusion guidelines for injured children using a Modified Delphi Consensus Process. J Trauma Acute Care Surg. 2019 10; 87(4):935-943.
Trappey AF, Thompson KM, Kuppermann N, Stephenson JT, Nuno MA, Hewes HA, Meyers SR, Stanley RM, Galante JM, Nishijima DK, Traumatic Injury Clinical Trial Evaluating Tranexamic Acid in Children (TIC-TOC) Collaborators of th. PMID: 31299040; PMCID: PMC8130983.
View in:
PubMed Mentions:
4 Fields:
Translation:
Humans
-
Clinical presentation and proteomic signature of patients with TANGO2 mutations. J Inherit Metab Dis. 2020 03; 43(2):297-308.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. PMID: 31339582; PMCID: PMC7078914.
View in:
PubMed Mentions:
32 Fields:
Translation:
HumansCells
-
Risks of Exertional Rhabdomyolysis With Blood Flow-Restricted Training: Beyond the Case Report. Clin J Sport Med. 2018 11; 28(6):491-492.
Thompson KMA, Slysz JT, Burr JF. PMID: 29084035.
View in:
PubMed Mentions:
7 Fields:
Translation:
Humans
-
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. EMBO Mol Med. 2018 11; 10(11).
Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW. PMID: 30201738; PMCID: PMC6220311.
View in:
PubMed Mentions:
42 Fields:
Translation:
HumansAnimalsCells
-
Ischemic Preconditioning: No Influence on Maximal Sprint Acceleration Performance. Int J Sports Physiol Perform. 2018 Sep 01; 13(8):986-990.
Thompson KMA, Whinton AK, Ferth S, Spriet LL, Burr JF. PMID: 29345532.
View in:
PubMed Mentions:
9 Fields:
Translation:
Humans
-
Testing a novel isokinetic dynamometer constructed using a 1080 Quantum. PLoS One. 2018; 13(7):e0201179.
Whinton AK, Thompson KMA, Power GA, Burr JF. PMID: 30028864; PMCID: PMC6054416.
View in:
PubMed Mentions:
6 Fields:
Translation:
Humans
-
Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy. Neurol Genet. 2018 Aug; 4(4):e256.
King MS, Thompson K, Hopton S, He L, Kunji ERS, Taylor RW, Ortiz-Gonzalez XR. PMID: 30046662; PMCID: PMC6055355.
View in:
PubMed Mentions:
18
-
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 03 01; 102(3):494-504.
Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. PMID: 29478781; PMCID: PMC6117612.
View in:
PubMed Mentions:
53 Fields:
Translation:
HumansCells
-
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. JAMA Neurol. 2018 01 01; 75(1):105-113.
Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G. PMID: 29181510; PMCID: PMC5833489.
View in:
PubMed Mentions:
19 Fields:
Translation:
Humans
-
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017 Oct 05; 101(4):525-538.
Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. PMID: 28942965; PMCID: PMC5630164.
View in:
PubMed Mentions:
43 Fields:
Translation:
HumansAnimalsCells
-
Chronic heat exposure for health and exercise performance - cardiovascular research heats up. J Physiol. 2017 07 01; 595(13):4137-4138.
Thompson KMA, Coates AM, Incognito AV, Whinton AK. PMID: 28390060; PMCID: PMC5491892.
View in:
PubMed Mentions:
1 Fields:
Translation:
Humans
-
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet. 2016 10 06; 99(4):860-876.
Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW. PMID: 27693233; PMCID: PMC5065686.
View in:
PubMed Mentions:
62 Fields:
Translation:
HumansCells
-
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? JIMD Rep. 2016; 26:13-9.
Casey JP, Crushell E, Thompson K, Twomey E, He L, Ennis S, Philip RK, Taylor RW, King MD, Lynch SA. PMID: 26238252; PMCID: PMC5580737.
View in:
PubMed Mentions:
5