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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium; Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. Donkervoort S, et al. Among authors: javed a. Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29. Acta Neuropathol. 2019. PMID: 31463572 Free PMC article.
Cancelled operations: a 7-day cohort study of planned adult inpatient surgery in 245 UK National Health Service hospitals.
Wong DJN, Harris SK, Moonesinghe SR; SNAP-2: EPICCS collaborators; Health Services Research Centre, National Institute of Academic Anaesthesia; Study Steering Group; Net Solving Limited; Trainee Research Networks; Abertawe Bro Morgannwg University Health Board; Aintree University Hospitals NHS Foundation Trust; Airedale NHS Foundation Trust; Aneurin Bevan Health Board; Ashford & St Peters NHS Foundation Trust; Barking, Havering and Redbridge University Hospitals NHS Trust; Barnsley Hospital NHS Foundation Trust; Barts Health NHS Trust; Basildon and Thurrock University Hospitals NHS Foundation Trust; Bedford Hospital NHS Trust; Belfast Health and Social Care Trust; Betsi Cadwaladr University Health Board; Birmingham Women's NHS Foundation Trust; Blackpool Teaching Hospitals NHS Foundation Trust; Bolton Hospital NHS Foundation Trust; Bradford Teaching Hospitals NHS Foundation Trust; Brighton and Sussex University Hospitals NHS Trust; Buckinghamshire Healthcare NHS Trust; Burton Hospitals NHS Foundation Trust; Calderdale and Huddersfield NHS Foundation Trust; Cambridge University Hospitals NHS Foundation Trust; Cardiff and Vale University Health Board; Central Manchester Universi… See abstract for full author list ➔ Wong DJN, et al. Br J Anaesth. 2018 Oct;121(4):730-738. doi: 10.1016/j.bja.2018.07.002. Epub 2018 Sep 7. Br J Anaesth. 2018. PMID: 30236235 Free article.
Collaborative Outcomes Study on Health and Functioning During Infection Times (COH-FIT): Global and Risk-Group Stratified Course of Well-Being and Mental Health During the COVID-19 Pandemic in Adolescents.
Solmi M, Thompson T, Cortese S, Estradé A, Agorastos A, Radua J, Dragioti E, Vancampfort D, Thygesen LC, Aschauer H, Schlögelhofer M, Aschauer E, Schneeberger AA, Huber CG, Hasler G, Conus P, Do Cuénod KQ, von Känel R, Arrondo G, Fusar-Poli P, Gorwood P, Llorca PM, Krebs MO, Scanferla E, Kishimoto T, Rabbani G, Skonieczna-Żydecka K, Brambilla P, Favaro A, Takamiya A, Zoccante L, Colizzi M, Bourgin J, Kamiński K, Moghadasin M, Seedat S, Matthews E, Wells J, Vassilopoulou E, Gadelha A, Su KP, Kwon JS, Kim M, Lee TY, Papsuev O, Manková D, Boscutti A, Gerunda C, Saccon D, Righi E, Monaco F, Croatto G, Cereda G, Demurtas J, Brondino N, Veronese N, Enrico P, Politi P, Ciappolino V, Pfennig A, Bechdolf A, Meyer-Lindenberg A, Kahl KG, Domschke K, Bauer M, Koutsouleris N, Winter S, Borgwardt S, Bitter I, Balazs J, Czobor P, Unoka Z, Mavridis D, Tsamakis K, Bozikas VP, Tunvirachaisakul C, Maes M, Rungnirundorn T, Supasitthumrong T, Haque A, Brunoni AR, Costardi CG, Schuch FB, Polanczyk G, Luiz JM, Fonseca L, Aparicio LV, Valvassori SS, Nordentoft M, Vendsborg P, Hoffmann SH, Sehli J, Sartorius N, Heuss S, Guinart D, Hamilton J, Kane J, Rubio J, Sand M, Koyanagi A, Solanes A, Andreu-Bernabeu… See abstract for full author list ➔ Solmi M, et al. Among authors: javed a. J Am Acad Child Adolesc Psychiatry. 2024 Nov 22:S0890-8567(24)02023-9. doi: 10.1016/j.jaac.2024.07.932. Online ahead of print. J Am Acad Child Adolesc Psychiatry. 2024. PMID: 39581373
Development and external evaluation of a self-learning auto-segmentation model for Colorectal Cancer Liver Metastases Assessment (COALA).
Bereska JI, Zeeuw M, Wagenaar L, Jenssen HB, Wesdorp NJ, van der Meulen D, Bereska LF, Gavves E, Janssen BV, Besselink MG, Marquering HA, van Waesberghe JTM, Aghayan DL, Pelanis E, van den Bergh J, Nota IIM, Moos S, Kemmerich G, Syversveen T, Kolrud FK, Huiskens J, Swijnenburg RJ, Punt CJA, Stoker J, Edwin B, Fretland ÅA, Kazemier G, Verpalen IM; Pancreatobiliary and Hepatic Artificial Intelligence Research (PHAIR) consortium; Dutch Colorectal Cancer Group Liver Expert Panel. Bereska JI, et al. Insights Imaging. 2024 Nov 22;15(1):279. doi: 10.1186/s13244-024-01820-7. Insights Imaging. 2024. PMID: 39576456 Free PMC article.
Development of a Composite Score Based on Carbohydrate Antigen 19-9 Dynamics to Predict Survival in Carbohydrate Antigen 19-9-Producing Patients With Pancreatic Ductal Adenocarcinoma After Neoadjuvant Treatment.
Rompen IF, Sereni E, Habib JR, Garnier J, Galimberti V, Perez Rivera LR, Vatti D, Lafaro KJ, Hewitt DB, Sacks GD, Burns WR, Cohen S, Kaplan B, Burkhart RA, Turrini O, Wolfgang CL, He J, Javed AA. Rompen IF, et al. Among authors: javed aa. JCO Precis Oncol. 2024 Oct;8:e2400193. doi: 10.1200/PO.24.00193. Epub 2024 Nov 20. JCO Precis Oncol. 2024. PMID: 39565977
1,172 results