Hakutulokset - Pandolfo, Massimo

Friedreich Ataxia: New Pathways Tekijä Pandolfo, Massimo

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This variant alters protein function, but is it pathogenic? Tekijä Pandolfo, Massimo

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Rating scales for rare neurological diseases: What are we learning from Friedreich ataxia? Tekijä Pandolfo, Massimo

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Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort Tekijä Pandolfo, Massimo

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Development of histone deacetylase inhibitors as therapeutics for neurological disease Tekijä Gottesfeld, Joel M, Pandolfo, Massimo

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Increasing Frataxin Gene Expression with Histone Deacetylase Inhibitors as a Therapeutic Approach for Friedreich's Ataxia Tekijä Gottesfeld, Joel M., Rusche, James R., Pandolfo, Massimo

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Real-Time PCR and Linkage Studies to Identify Carriers Presenting HPRT Deleted Gene Tekijä Lapucci, Cristina, Montin, Diego Pomarè, Pandolfo, Massimo, Bertelli, Matteo

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Hand Dexterity and Pyramidal Dysfunction in Friedreich Ataxia, A Finger Tapping Study Tekijä Naeije, Gilles, Rovai, Antonin, Pandolfo, Massimo, De Tiège, Xavier

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Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation Tekijä Pandolfo, Massimo, Rai, Myriam, Remiche, Gauthier, Desmyter, Laurence, Vandernoot, Isabelle

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Neurology: Genetics Year in Review Tekijä Pulst, Stefan, Pandolfo, Massimo, Roos, Raymond, Milone, Margherita, Jayadev, Suman

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Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation Tekijä Imbault, Virginie, Dionisi, Chiara, Naeije, Gilles, Communi, David, Pandolfo, Massimo

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Pharmacological treatments for Friedreich ataxia Tekijä Kearney, Mary, Orrell, Richard W, Fahey, Michael, Brassington, Ruth, Pandolfo, Massimo

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Primary proprioceptive neurons from human induced pluripotent stem cells: a cell model for afferent ataxias Tekijä Dionisi, Chiara, Rai, Myriam, Chazalon, Marine, Schiffmann, Serge N., Pandolfo, Massimo

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Central Nervous System Therapeutic Targets in Friedreich Ataxia Tekijä Harding, Ian H., Lynch, David R., Koeppen, Arnulf H., Pandolfo, Massimo

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A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1 Tekijä Sánchez, Ivelisse, Piñol, Patricia, Corral-Juan, Marc, Pandolfo, Massimo, Matilla-Dueñas, Antoni

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Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke Tekijä Lemmens, Robin, Abboud, Shérine, Robberecht, Wim, Vanhees, Luc, Pandolfo, Massimo, Thijs, Vincent, Goris, An

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Consensus clinical management guidelines for Friedreich ataxia Tekijä Corben, Louise A, Lynch, David, Pandolfo, Massimo, Schulz, Jörg B, Delatycki, Martin B

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Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia Tekijä Naeije, Gilles, Rai, Myriam, Allaerts, Nick, Sjogard, Martin, De Tiège, Xavier, Pandolfo, Massimo

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Age of onset modulates resting‐state brain network dynamics in Friedreich Ataxia Tekijä Naeije, Gilles, Coquelet, Nicolas, Wens, Vincent, Goldman, Serge, Pandolfo, Massimo, De Tiège, Xavier

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PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia Tekijä Marmolino, Daniele, Manto, Mario, Acquaviva, Fabio, Vergara, Paola, Ravella, Ajay, Monticelli, Antonella, Pandolfo, Massimo

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