Výsledky vyhledávání - Francesca Magrinelli

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  1. 1
    Challenges in Clinicogenetic Correlations: One Gene – Many Phenotypes

    Challenges in Clinicogenetic Correlations: One Gene – Many Phenotypes Autor Francesca Magrinelli, Bettina Balint, Kailash P. Bhatia

    Vydáno 2021
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  2. 2
    Pathophysiology of Motor Dysfunction in Parkinson’s Disease as the Rationale for Drug Treatment and Rehabilitation

    Pathophysiology of Motor Dysfunction in Parkinson’s Disease as the Rationale for Drug Treatment and Rehabilitation Autor Francesca Magrinelli, Alessandro Picelli, Pierluigi Tocco, Angela Federico, Laura Roncari, Nicola Smania, Giampietro Zanette, Stefano Tamburin

    Vydáno 2016
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  3. 3
    Unravelling the enigma of cortical tremor and other forms of cortical myoclonus

    Unravelling the enigma of cortical tremor and other forms of cortical myoclonus Autor Anna Latorre, Lorenzo Rocchi, Francesca Magrinelli, Eoin Mulroy, Alfredo Berardelli, John C. Rothwell, Kailash P. Bhatia

    Vydáno 2020
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  4. 4
    Four-week trunk-specific exercise program decreases forward trunk flexion in Parkinson's disease: A single-blinded, randomized controlled trial

    Four-week trunk-specific exercise program decreases forward trunk flexion in Parkinson's disease: A single-blinded, randomized controlled trial Autor Marialuisa Gandolfi, Michèle Tinazzi, Francesca Magrinelli, Giulia Busselli, Eleonora Dimitrova, Niccolò Polo, Paolo Manganotti, Alfonso Fasano, Nicola Smania, Christian Geroin

    Vydáno 2019
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  5. 5
    The Association between Serum Cytokines and Damage to Large and Small Nerve Fibers in Diabetic Peripheral Neuropathy

    The Association between Serum Cytokines and Damage to Large and Small Nerve Fibers in Diabetic Peripheral Neuropathy Autor Francesca Magrinelli, Chiara Briani, Marcello Romano, Susanna Ruggero, Elisabetta Toffanin, G Triolo, George Chummar Peter, Marialuigia Praitano, Matteo Francesco Lauriola, Giampietro Zanette, Stefano Tamburin

    Vydáno 2015
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  6. 6
    Risk factors of Parkinson disease

    Risk factors of Parkinson disease Autor Daniele Belvisi, Roberta Pellicciari, A Fabbrini, Matteo Costanzo, Sara Pietracupa, Maria De Lucia, Nicola Modugno, Francesca Magrinelli, Carlo Dallocchio, Tommaso Ercoli, Claudio Terravecchia, Alessandra Nicoletti, Paolo Solla, Giovanni Fabbrini, Michèle Tinazzi, Alfredo Berardelli, Giovanni Defazio

    Vydáno 2020
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  7. 7
    Dissecting the Phenotype and Genotype of <scp><i>PLA2G6</i></scp>‐Related Parkinsonism

    Dissecting the Phenotype and Genotype of <scp><i>PLA2G6</i></scp>‐Related Parkinsonism Autor Francesca Magrinelli, Sahil Mehta, Giulia Di Lazzaro, Anna Latorre, Mark J. Edwards, Bettina Balint, Purba Basu, Christopher Kobylecki, Sergiu Groppa, Anaita Hegde, Eoin Mulroy, Carlos Estevez‐Fraga, Anshita Arora, Hrishikesh Kumar, Susanne A. Schneider, Patrick A. Lewis, Zane Jaunmuktane, Tamás Révész, Sonia Gandhi, Nicholas Wood, John Hardy, Michèle Tinazzi, Vivek Lal, Henry Houlden, Kailash P. Bhatia

    Vydáno 2021
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  8. 8
    Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

    Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy Autor Francesca Magrinelli, Elisa Calì, Vinícius Lopes Braga, Uluç Yiş, Hoda Tomoum, Hanan E. Shamseldin, Julian Raiman, Christoph Kernstock, Flávio Moura Rezende Filho, Orlando Graziani Póvoas Barsottini, Robert W. Taylor, Elsebet Østergaard, Abdullah Tamim, Karin Schäferhoff, Juliana Maria Ferraz Sallum, Maha S. Zaki, Fernando Kok, Kailash P. Bhatia, Bernd Wissinger, Kate Sergeant, Tobias B. Haack, Rita Horváth, Semra Hız, Fowzan S. Alkuraya, Henry Houlden, José Luiz Pedroso, Reza Maroofian

    Vydáno 2021
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  9. 9
    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction

    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction Autor Niccolò E. Mencacci, Georgia Minakaki, Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf, P. V. R. SHANNON, David Chitayat, Francesca Magrinelli, Wesley Peng, Diptaman Chatterjee, Sara H. El‐Dessouky, Júlia Baptista, Tamás Marton, Julie Vogt, Juan Darío Ortigoza‐Escobar, Loreto Martorell, Marta Gómez‐Chiari, Ingrid M. Wentzensen, Erik‐Jan Kamsteeg, Maha S. Zaki, Annarita Scardamaglia, Giovanni Zifarelli, Zuhair N. Al‐Hassnan, Elka Miller, Shiri Shinar, Lova S. Matsa, Sri Hari Chandan Appikonda, Michael Schwake, Mariasavina Severino, Henry Houlden, Shunmoogum A. Patten, Juan S. Bonifacino, Kailash P. Bhatia, Dimitri Krainc

    Vydáno 2025
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  10. 10
    <i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy

    <i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy Autor Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, Chiara Gemelli, Natalia Dominik, Valentina Galassi Deforie, Francesca Magrinelli, Francesca Castellani, Elisa Vegezzi, Pietro Businaro, Ilaria Callegari, Anna Pichiecchio, Giuseppe Cosentino, Enrico Alfonsi, Enrico Marchioni, Silvia Colnaghi, Simone Gana, Enza Maria Valente, Cristina Tassorelli, Stéphanie Efthymiou, Stefano Facchini, Aisling Carr, Matilde Laurá, Alexander M. Rossor, Hadi Manji, Michael P. Lunn, Elena Pegoraro, Lucio Santoro, Marina Grandis, Emilia Bellone, Nicholas Beauchamp, Marios Hadjivassiliou, Diego Kaski, Adolfo M. Bronstein, Henry Houlden, Mary M. Reilly, Paola Mandich, Angelo Schenone, Fiore Manganelli, Chiara Briani, Andrea Cortese

    Vydáno 2021
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  11. 11
    Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

    Genotype–phenotype correlation in PRKN-associated Parkinson’s disease Autor Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise‐Laure Mariani, Stéphanie Carvalho, François‐Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan‐Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Álvarez, Pau Pástor, Alessio Di Fonzo, Kailash P. Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald G. Grosset, Nigel Williams, Derek P. Narendra, Hsin-Pin Lin, Čarna Jovanović, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockmann, Huw R. Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean‐Christophe Corvol

    Vydáno 2024
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  12. 12
    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Autor Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández‐Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard Roxburgh, Inés Albájar, Catherine Ashton, Nick Beauchamp, Sarah J. Beecroft, Emilia Bellone, José Berciano, Petya Bogdanova‐Mihaylova, Barbara Borroni, Bernard Brais, Enrico Bugiardini, Catarina Falcão de Campos, Aisling Carr, Liam Carroll, Francesca Castellani, Tiziana Cavallaro, Patrick F. Chinnery, Silvia Colnaghi, Giuseppe Cosentino, Joana Damásio, Soma Das, Grazia Devigili, Daniela Di Bella, D J Dick, Alexandra Dürr, Amar El-Saddig, Jennifer Faber, Moreno Ferrarini, Massimiliano Filosto, Geraint Fuller, Salvatore Gallone, Chiara Gemelli, Marina Grandis, John Hardy, Channa Hewamadduma, Rita Horváth, Vincent Huin, Daniele Imperiale, Pablo Iruzubieta, Diego Kaski, Andrew King, Thomas Klockgether, Müge Kovancılar Koç, Kishore R. Kumar, Thierry Küntzer, Nigel G. Laing, Matilde Laurá, Timothy Lavin, Peter Leigh, Lea Leonardis, Michael P. Lunn, Stefania Magri, Francesca Magrinelli, Maria João Malaquias, Michelangelo Mancuso, Hadi Manji, Sara Massucco, John McConville, Renato P. Munhoz, Sara Nagy, Alain Ndayisaba, Andrea H. Németh, Luiz Eduardo Novis, Johanna Palmio, Elena Pegoraro, David Pellerin, Benedetta Perrone, Chiara Pisciotta, James M. Polke, Malcolm J. Proudfoot, Laura Orsi, Aleksandar Radunović, Nilo Riva, Aiko Robert, Riccardo Ronco, Elena Rossini, Alexander M. Rossor, Irmak Şahbaz, Qais Sa’di, Ettore Salsano, Alessandro Salvalaggio, Lucio Santoro, Elisa Sarto

    Vydáno 2024
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