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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: pedemonte m. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015.
Sansone VA, Racca F, Ottonello G, Vianello A, Berardinelli A, Crescimanno G, Casiraghi JL; Italian SMA Family Association. Sansone VA, et al. Neuromuscul Disord. 2015 Dec;25(12):979-89. doi: 10.1016/j.nmd.2015.09.009. Epub 2015 Sep 18. Neuromuscul Disord. 2015. PMID: 26453142 No abstract available.
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Among authors: pedemonte m. Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. doi: 10.1016/j.bbrc.2007.09.066. Epub 2007 Sep 25. Biochem Biophys Res Commun. 2007. PMID: 17923109
130 results