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12 results

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Page 1
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).
Ferese R, Albano V, Falconi M, Iacovelli F, Campopiano R, Scala S, Griguoli AM, Gaglione A, Giardina E, Zampatti S, Storto M, Fornai F, D'Alessio C, Novelli G, Gambardella S. Ferese R, et al. Among authors: griguoli am. Arch Ital Biol. 2017 Dec 1;155(4):118-130. doi: 10.12871/000398292017410. Arch Ital Biol. 2017. PMID: 29405036 No abstract available.
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens.
Ferese R, Scorzolini L, Campopiano R, Albano V, Griguoli AM, Giardina E, Scala S, Ryskalin L, D'Alessio C, Zampatti S, Fantozzi R, Storto M, Fornai F, Gambardella S. Ferese R, et al. Among authors: griguoli am. Acta Virol. 2017;61(3):273-279. doi: 10.4149/av_2017_305. Acta Virol. 2017. PMID: 28854791
The Corticospinal Tract in Huntington's Disease.
Phillips O, Squitieri F, Sanchez-Castaneda C, Elifani F, Griguoli A, Maglione V, Caltagirone C, Sabatini U, Di Paola M. Phillips O, et al. Cereb Cortex. 2015 Sep;25(9):2670-82. doi: 10.1093/cercor/bhu065. Epub 2014 Apr 4. Cereb Cortex. 2015. PMID: 24706734
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, MacDonald ME, Gusella JF. Lee JM, et al. Am J Hum Genet. 2012 Mar 9;90(3):434-44. doi: 10.1016/j.ajhg.2012.01.005. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387017 Free PMC article.
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG); Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network; Myers RH; HD-MAPS Study Group; MacDonald ME, Gusella JF; COHORT study of the HSG. Lee JM, et al. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, Valente EM; PARKNET study group. Di Fonzo A, et al. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340
12 results