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Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.
McClelland V, Cullup T, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Boehm J, Bitoun M, Miller O, Jan W, Menson E, Amaya L, Trounce J, Laporte J, Mohammed S, Sewry C, Raiman J, Jungbluth H. McClelland V, et al. Among authors: bodi i. Am J Med Genet A. 2010 Mar;152A(3):741-7. doi: 10.1002/ajmg.a.33296. Am J Med Genet A. 2010. PMID: 20186778
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Cullup T, et al. Among authors: bodi i. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222957 Free PMC article.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. Byrne S, et al. Among authors: bodi i. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Brain. 2016. PMID: 26917586 Free PMC article.
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Knuiman GJ, Küsters B, Eshuis L, Snoeck M, Lammens M, Heytens L, De Ridder W, Baets J, Scalco RS, Quinlivan R, Holton J, Bodi I, Wraige E, Radunovic A, von Landenberg C, Reimann J, Kamsteeg EJ, Sewry C, Jungbluth H, Voermans NC. Knuiman GJ, et al. Among authors: bodi i. J Neurol. 2019 Apr;266(4):876-887. doi: 10.1007/s00415-019-09209-z. Epub 2019 Feb 20. J Neurol. 2019. PMID: 30788618 Free PMC article.
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
Phadke R, Hedberg-Oldfors C, Scalco RS, Lowe DM, Ashworth M, Novelli M, Vara R, Merwick A, Amer H, Sofat R, Sugarman M, Jovanovic A, Roberts M, Nakou V, King A, Bodi I, Jungbluth H, Oldfors A, Murphy E. Phadke R, et al. Among authors: bodi i. J Inherit Metab Dis. 2020 Sep;43(5):1002-1013. doi: 10.1002/jimd.12234. Epub 2020 Apr 16. J Inherit Metab Dis. 2020. PMID: 32187699 Review.
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Among authors: bodi i. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Lok A, Fernandez-Garcia MA, Taylor RW, French C, MacFarland R, Bodi I, Champion M, Josifova D, Raymond FL, Iuso A, Jungbluth H, Milan A, Singh RR. Lok A, et al. Among authors: bodi i. Am J Med Genet A. 2022 Sep;188(9):2783-2789. doi: 10.1002/ajmg.a.62848. Epub 2022 May 26. Am J Med Genet A. 2022. PMID: 35616428
A novel case of paravertebral glomangiomyomatosis.
Boukas A, Aizpurua M, Maratos E, Kalyal N, Giamouriadis A, Barkas K, King A, Bodi I, Thomas N. Boukas A, et al. Among authors: bodi i. Br J Neurosurg. 2024 Dec;38(6):1429-1434. doi: 10.1080/02688697.2022.2054945. Epub 2022 Apr 5. Br J Neurosurg. 2024. PMID: 35379054
203 results