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892 results

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Page 1
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.
Hitomi Y, Heinzen EL, Donatello S, Dahl HH, Damiano JA, McMahon JM, Berkovic SF, Scheffer IE, Legros B, Rai M, Weckhuysen S, Suls A, De Jonghe P, Pandolfo M, Goldstein DB, Van Bogaert P, Depondt C. Hitomi Y, et al. Among authors: rai m. Ann Neurol. 2013 Sep;74(3):496-501. doi: 10.1002/ana.23934. Epub 2013 Sep 4. Ann Neurol. 2013. PMID: 23686771 Free PMC article.
A gene expression phenotype in lymphocytes from Friedreich ataxia patients.
Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Saccá F, Filla A, Lynch DR, Rusche JR, Gottesfeld JM, Pandolfo M, Geschwind DH. Coppola G, et al. Among authors: rai m. Ann Neurol. 2011 Nov;70(5):790-804. doi: 10.1002/ana.22526. Ann Neurol. 2011. PMID: 22162061 Free PMC article.
Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes.
Cnop M, Igoillo-Esteve M, Rai M, Begu A, Serroukh Y, Depondt C, Musuaya AE, Marhfour I, Ladrière L, Moles Lopez X, Lefkaditis D, Moore F, Brion JP, Cooper JM, Schapira AH, Clark A, Koeppen AH, Marchetti P, Pandolfo M, Eizirik DL, Féry F. Cnop M, et al. Among authors: rai m. Ann Neurol. 2012 Dec;72(6):971-82. doi: 10.1002/ana.23698. Ann Neurol. 2012. PMID: 23280845 Free PMC article.
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).
Depondt C, Donatello S, Rai M, Wang FC, Manto M, Simonis N, Pandolfo M. Depondt C, et al. Among authors: rai m. Neurol Genet. 2016 Aug 18;2(5):e94. doi: 10.1212/NXG.0000000000000094. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27583304 Free PMC article.
Epigenetic therapy for Friedreich ataxia.
Soragni E, Miao W, Iudicello M, Jacoby D, De Mercanti S, Clerico M, Longo F, Piga A, Ku S, Campau E, Du J, Penalver P, Rai M, Madara JC, Nazor K, O'Connor M, Maximov A, Loring JF, Pandolfo M, Durelli L, Gottesfeld JM, Rusche JR. Soragni E, et al. Among authors: rai m. Ann Neurol. 2014 Oct;76(4):489-508. doi: 10.1002/ana.24260. Epub 2014 Sep 16. Ann Neurol. 2014. PMID: 25159818 Free PMC article. Clinical Trial.
892 results