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308 results
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Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene.
Badhwar A, Jansen A, Andermann F, Pandolfo M, Andermann E. Badhwar A, et al. Among authors: pandolfo m. Mov Disord. 2004 Dec;19(12):1424-31. doi: 10.1002/mds.20264. Mov Disord. 2004. PMID: 15514925 Review.
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AM, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJ, Andermann E. Jansen AC, et al. Among authors: pandolfo m. Ann Neurol. 2006 Nov;60(5):528-39. doi: 10.1002/ana.21037. Ann Neurol. 2006. PMID: 17120248
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: pandolfo m. Ann Neurol. 2011 Nov;70(5):790-804. doi: 10.1002/ana.22526. Ann Neurol. 2011. PMID: 22162061 Free PMC article.
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.
D'Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, Gambardella A, St Hilaire JM, Kwiecinski H, Andermann E, Pandolfo M. D'Agostino D, et al. Among authors: pandolfo m. Neurology. 2004 Oct 26;63(8):1500-2. doi: 10.1212/01.wnl.0000142093.94998.1a. Neurology. 2004. PMID: 15505175
Delayed-onset Friedreich's ataxia revisited.
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M. Lecocq C, et al. Among authors: pandolfo m. Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21. Mov Disord. 2016. PMID: 26388117
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.
Hick A, Wattenhofer-Donzé M, Chintawar S, Tropel P, Simard JP, Vaucamps N, Gall D, Lambot L, André C, Reutenauer L, Rai M, Teletin M, Messaddeq N, Schiffmann SN, Viville S, Pearson CE, Pandolfo M, Puccio H. Hick A, et al. Among authors: pandolfo m. Dis Model Mech. 2013 May;6(3):608-21. doi: 10.1242/dmm.010900. Epub 2012 Nov 7. Dis Model Mech. 2013. PMID: 23136396 Free PMC article.
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Martelli A, Friedman LS, Reutenauer L, Messaddeq N, Perlman SL, Lynch DR, Fedosov K, Schulz JB, Pandolfo M, Puccio H. Martelli A, et al. Among authors: pandolfo m. Dis Model Mech. 2012 Nov;5(6):860-9. doi: 10.1242/dmm.009829. Epub 2012 Jun 26. Dis Model Mech. 2012. PMID: 22736457 Free PMC article.
Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration.
Coppola G, Choi SH, Santos MM, Miranda CJ, Tentler D, Wexler EM, Pandolfo M, Geschwind DH. Coppola G, et al. Among authors: pandolfo m. Neurobiol Dis. 2006 May;22(2):302-11. doi: 10.1016/j.nbd.2005.11.014. Epub 2006 Jan 25. Neurobiol Dis. 2006. PMID: 16442805 Free PMC article.
Frataxin overexpressing mice.
Miranda CJ, Santos MM, Ohshima K, Tessaro M, Sequeiros J, Pandolfo M. Miranda CJ, et al. Among authors: pandolfo m. FEBS Lett. 2004 Aug 13;572(1-3):281-8. doi: 10.1016/j.febslet.2004.07.022. FEBS Lett. 2004. PMID: 15304363
Iron metabolism in mice with partial frataxin deficiency.
Santos MM, Miranda CJ, Levy JE, Montross LK, Cossée M, Sequeiros J, Andrews N, Koenig M, Pandolfo M. Santos MM, et al. Among authors: pandolfo m. Cerebellum. 2003;2(2):146-53. doi: 10.1080/14734220309408. Cerebellum. 2003. PMID: 12880182
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