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Page 1
Hypoglycemia in patients with congenital muscle disease.
Hayes LH, Yun P, Mohassel P, Norato G, Donkervoort S, Leach ME, Alvarez R, Rutkowski A, Shaw ND, Foley AR, Bönnemann CG. Hayes LH, et al. Among authors: alvarez r. BMC Pediatr. 2020 Feb 6;20(1):57. doi: 10.1186/s12887-020-1909-5. BMC Pediatr. 2020. PMID: 32028919 Free PMC article.
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G. Ben Yaou R, et al. Among authors: alvarez r. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul. Brain Commun. 2021. PMID: 34240052 Free PMC article.
Common Data Elements for Muscle Biopsy Reporting.
Dastgir J, Rutkowski A, Alvarez R, Cossette SA, Yan K, Hoffmann RG, Sewry C, Hayashi YK, Goebel HH, Bonnemann C, Lawlor MW. Dastgir J, et al. Among authors: alvarez r. Arch Pathol Lab Med. 2016 Jan;140(1):51-65. doi: 10.5858/arpa.2014-0453-OA. Epub 2015 Jul 1. Arch Pathol Lab Med. 2016. PMID: 26132600 Free PMC article.
Patient perspective: my rare disease journey.
Alvarez R. Alvarez R. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006205. doi: 10.1101/mcs.a006205. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35217566 Free PMC article.
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.
Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH. Graham RJ, et al. Among authors: alvarez r. Arch Dis Child. 2020 Apr;105(4):332-338. doi: 10.1136/archdischild-2019-317910. Epub 2019 Sep 4. Arch Dis Child. 2020. PMID: 31484632 Free PMC article.
Stereotactic radiosurgery (SRS) for patients with brainstem cerebral cavernous malformations (CCMs): an international, multicentric study.
Dayawansa S, Dumot C, Mantziaris G, Xu Z, Pikis S, Peker S, Samanci Y, Ardor GD, Nabeel AM, Reda WA, Tawadros SR, Abdelkarim K, El-Shehaby AMN, Eldin RME, Elazzazi AH, Moreno NM, Álvarez RM, Liscak R, May J, Mathieu D, Tourigny JN, Tripathi M, Rajput A, Kumar N, Kaur R, Picozzi P, Franzini A, Speckter H, Hernandez W, Brito A, Warnick RE, Alzate J, Kondziolka D, Bowden GN, Patel S, Sheehan JP. Dayawansa S, et al. Among authors: alvarez rm. Sci Rep. 2024 Oct 29;14(1):25933. doi: 10.1038/s41598-024-77140-z. Sci Rep. 2024. PMID: 39472707 Free PMC article.
Longitudinal transcriptional changes reveal genes from the natural killer cell-mediated cytotoxicity pathway as critical players underlying COVID-19 progression.
Medina MA, Fuentes-Villalobos F, Quevedo C, Aguilera F, Riquelme R, Rioseco ML, Barria S, Pinos Y, Calvo M, Burbulis I, Kossack C, Alvarez RA, Garrido JL, Barria MI. Medina MA, et al. Among authors: alvarez ra. Elife. 2024 Oct 29;13:RP94242. doi: 10.7554/eLife.94242. Elife. 2024. PMID: 39470726 Free PMC article.
Correction to "From Acyclic Intramolecular-[4 + 2]- to Transannular Bis-[4 + 2]-Cycloaddition of the Macrodiolide for the Stereoselective Synthesis of the Octahydronaphthalene Core of Polyenic Macrolactam Sagamilactam".
Iglesias-Menduiña O, Novegil D, Martínez C, Alvarez R, de Lera AR. Iglesias-Menduiña O, et al. Among authors: alvarez r. Org Lett. 2024 Oct 28. doi: 10.1021/acs.orglett.4c03915. Online ahead of print. Org Lett. 2024. PMID: 39466105 No abstract available.
Involvement of aquaporins in Shiga toxin-induced swelling and water transport dysfunction in human renal microvascular endothelial cells.
Gomez FD, Reppetti J, Alvarez RS, Girón Reyes DC, Sacerdoti F, Balestracci A, Damiano AE, Martínez NA, Di Giusto G, Amaral MM. Gomez FD, et al. Among authors: alvarez rs. Biochim Biophys Acta Mol Cell Res. 2024 Oct 21;1872(1):119866. doi: 10.1016/j.bbamcr.2024.119866. Online ahead of print. Biochim Biophys Acta Mol Cell Res. 2024. PMID: 39442808
2,114 results