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Page 1
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: phadke r. 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.
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F. Sarkozy A, et al. Among authors: phadke r. Neurology. 2023 Oct 10;101(15):e1495-e1508. doi: 10.1212/WNL.0000000000207723. Epub 2023 Aug 29. Neurology. 2023. PMID: 37643885 Free PMC article.
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy.
Frank DE, Schnell FJ, Akana C, El-Husayni SH, Desjardins CA, Morgan J, Charleston JS, Sardone V, Domingos J, Dickson G, Straub V, Guglieri M, Mercuri E, Servais L, Muntoni F; SKIP-NMD Study Group. Frank DE, et al. Neurology. 2020 May 26;94(21):e2270-e2282. doi: 10.1212/WNL.0000000000009233. Epub 2020 Mar 5. Neurology. 2020. PMID: 32139505 Free PMC article. Clinical Trial.
Perfusion MRI in Cerebral Venous and Sinus Thrombosis.
Naik S, Phadke RV, Bhoi SK, Chauhan G, Soni N. Naik S, et al. Among authors: phadke rv. Neurol India. 2024 Jul 1;72(4):791-796. doi: 10.4103/neurol-india.NI_485_20. Epub 2024 Aug 31. Neurol India. 2024. PMID: 39216035 Free article.
Overexpression of the schizophrenia risk gene C4 in PV cells drives sex-dependent behavioral deficits and circuit dysfunction.
Fournier LA, Phadke RA, Salgado M, Brack A, Nocon JC, Bolshakova S, Grant JR, Padró Luna NM, Sen K, Cruz-Martín A. Fournier LA, et al. Among authors: phadke ra. bioRxiv [Preprint]. 2024 Apr 12:2024.01.27.575409. doi: 10.1101/2024.01.27.575409. bioRxiv. 2024. Update in: iScience. 2024 Aug 30;27(9):110800. doi: 10.1016/j.isci.2024.110800 PMID: 38328248 Free PMC article. Updated. Preprint.
Melanoma skin cancer detection using mask-RCNN with modified GRU model.
Monica KM, Shreeharsha J, Falkowski-Gilski P, Falkowska-Gilska B, Awasthy M, Phadke R. Monica KM, et al. Among authors: phadke r. Front Physiol. 2024 Jan 16;14:1324042. doi: 10.3389/fphys.2023.1324042. eCollection 2023. Front Physiol. 2024. PMID: 38292449 Free PMC article.
311 results