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Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
Melchionda L, Fang M, Wang H, Fugnanesi V, Morbin M, Liu X, Li W, Ceccherini I, Farina L, Savoiardo M, D'Adamo P, Zhang J, Costa A, Ravaglia S, Ghezzi D, Zeviani M. Melchionda L, et al. Among authors: farina l. Orphanet J Rare Dis. 2013 May 1;8:66. doi: 10.1186/1750-1172-8-66. Orphanet J Rare Dis. 2013. PMID: 23634874 Free PMC article.
L-2-Hydroxyglutaric aciduria: MRI in seven cases.
D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M. D'Incerti L, et al. Among authors: farina l. Neuroradiology. 1998 Nov;40(11):727-33. doi: 10.1007/s002340050673. Neuroradiology. 1998. PMID: 9860123
MR imaging and proton MR spectroscopy in adult Krabbe disease.
Farina L, Bizzi A, Finocchiaro G, Pareyson D, Sghirlanzoni A, Bertagnolio B, Savoiardo M, Naidu S, Singhal BS, Wenger DA. Farina L, et al. AJNR Am J Neuroradiol. 2000 Sep;21(8):1478-82. AJNR Am J Neuroradiol. 2000. PMID: 11003282 Free PMC article.
Epileptic phenotypes associated with mitochondrial disorders.
Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, Lamantea E, Savoiardo M, Uziel G, Villani F, Zeviani M, Avanzini G. Canafoglia L, et al. Among authors: farina l. Neurology. 2001 May 22;56(10):1340-6. doi: 10.1212/wnl.56.10.1340. Neurology. 2001. PMID: 11376185
MRI in Leigh syndrome with SURF1 gene mutation.
Savoiardo M, Zeviani M, Uziel G, Farina L. Savoiardo M, et al. Among authors: farina l. Ann Neurol. 2002 Jan;51(1):138-9. doi: 10.1002/ana.10031. Ann Neurol. 2002. PMID: 11782998 No abstract available.
434 results