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Page 1
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, Donkervoort S, Bönnemann CG, Sud M, VanNoy GE, Mangilog BE, Pais L, O'Donnell-Luria A, Madruga-Garrido M, Scala M, Fiorillo C, Baratto S, Traverso M, Malfatti E, Bruno C, Zara F, Paradas C, Ogata K, Nishino I, Laing NG, Bryson-Richardson RJ, Cabrera-Serrano M, Ravenscroft G. Dofash LNH, et al. Among authors: fiorillo c. Brain. 2024 Nov 12:awae371. doi: 10.1093/brain/awae371. Online ahead of print. Brain. 2024. PMID: 39531736
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
Biancheri R, Lamantea E, Severino M, Diodato D, Pedemonte M, Cassandrini D, Ploederl A, Trucco F, Fiorillo C, Minetti C, Santorelli FM, Zeviani M, Bruno C. Biancheri R, et al. Among authors: fiorillo c. JIMD Rep. 2015;23:85-9. doi: 10.1007/8904_2015_434. Epub 2015 Apr 9. JIMD Rep. 2015. PMID: 25854774 Free PMC article.
Respiratory pattern in a FSHD pediatric population.
Trucco F, Pedemonte M, Fiorillo C, Tacchetti P, Brisca G, Bruno C, Minetti C. Trucco F, et al. Among authors: fiorillo c. Respir Med. 2016 Oct;119:78-80. doi: 10.1016/j.rmed.2016.08.014. Epub 2016 Aug 22. Respir Med. 2016. PMID: 27692152 Free article.
Respiratory pattern in a FSDH paediatric population.
Trucco F, Pedemonte M, Fiorillo C, Tacchetti P, Brisca G, Bruno C, Minetti C. Trucco F, et al. Among authors: fiorillo c. Respir Med. 2017 May;126:132. doi: 10.1016/j.rmed.2017.03.023. Epub 2017 Mar 29. Respir Med. 2017. PMID: 28389040 Free article. No abstract available.
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Panicucci C, Fiorillo C, Moro F, Astrea G, Brisca G, Trucco F, Pedemonte M, Lanteri P, Sciarretta L, Minetti C, Santorelli FM, Bruno C. Panicucci C, et al. Among authors: fiorillo c. JIMD Rep. 2018;38:23-31. doi: 10.1007/8904_2017_25. Epub 2017 Apr 30. JIMD Rep. 2018. PMID: 28456886 Free PMC article.
Muscle MRI in neutral lipid storage disease (NLSD).
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. Garibaldi M, et al. Among authors: fiorillo c. J Neurol. 2017 Jul;264(7):1334-1342. doi: 10.1007/s00415-017-8498-8. Epub 2017 May 13. J Neurol. 2017. PMID: 28503705 Free PMC article.
Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. Garibaldi M, et al. Among authors: fiorillo c. J Neurol. 2017 Jul;264(7):1343-1344. doi: 10.1007/s00415-017-8528-6. J Neurol. 2017. PMID: 28608302 Free PMC article. No abstract available.
388 results