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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N, Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D, Dyment D, Voets T, Vriens J. Burglen L, et al. Among authors: rodriguez d. Elife. 2023 Jan 17;12:e81032. doi: 10.7554/eLife.81032. Elife. 2023. PMID: 36648066 Free PMC article.
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ. Hogarth P, et al. Among authors: rodriguez d. Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26. Neurology. 2013. PMID: 23269600 Free PMC article.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. Morgan NV, et al. Among authors: rodriguez d. Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18. Nat Genet. 2006. PMID: 16783378 Free PMC article.
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Valayannopoulos V, Michot C, Rodriguez D, Hubert L, Saillour Y, Labrune P, de Laveaucoupet J, Brunelle F, Amiel J, Lyonnet S, Enza-Razavi F, Attié-Bitach T, Lacombe D, Bahi-Buisson N, Desguerre I, Chelly J, Burglen L, Boddaert N, de Lonlay P. Valayannopoulos V, et al. Among authors: rodriguez d. Brain. 2012 Jan;135(Pt 1):e199; author reply e200. doi: 10.1093/brain/awr108. Epub 2011 May 23. Brain. 2012. PMID: 21609947 No abstract available.
Factor B Inhibition with Iptacopan in Recurrent C3 Glomerulopathy Following Kidney Transplant: A Report of Two Cases.
Escudero-Saiz VJ, Gonzalez Á, García-Herrera A, Larque AB, Bomback AS, Morantes L, Martínez-Chillarón M, Ollé J, Guillén E, Xipell M, Molina-Andújar A, Rodríguez D, Cuadrado E, Cacho J, Arana C, Esforzado N, Bastida C, Poch E, Diekman F, Cucchiari D, Quintana LF, Blasco M. Escudero-Saiz VJ, et al. Among authors: rodriguez d. Kidney Med. 2024 Apr 12;6(6):100823. doi: 10.1016/j.xkme.2024.100823. eCollection 2024 Jun. Kidney Med. 2024. PMID: 38741947 Free PMC article.
Association of muscle disorders in late postmenopausal women according to the type of experienced menopause.
Vallejo MS, Blümel JE, Chedraui P, Tserotas K, Salinas C, Rodrigues MA, Rodríguez DA, Rey C, Ojeda E, Ñañez M, Monterrosa-Castro Á, Gómez-Tabares G, Espinoza MT, Escalante C, Elizalde A, Dextre M, Calle A, Aedo S. Vallejo MS, et al. Among authors: rodriguez da. Menopause. 2024 Apr 30. doi: 10.1097/GME.0000000000002367. Online ahead of print. Menopause. 2024. PMID: 38688462
2,307 results