Torthaí cuardaigh - Francesco Mari

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  1. 1
    Continuous High Frequency Activity: A peculiar SEEG pattern related to specific brain regions

    Continuous High Frequency Activity: A peculiar SEEG pattern related to specific brain regions de réir Federico Melani, Rina Zelmann, Francesco Mari, Jean Gotman

    Foilsithe / Cruthaithe 2013
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  2. 2
    Autophagy dysregulation in Danon disease

    Autophagy dysregulation in Danon disease de réir Anna Chiara Nascimbeni, Francesco Mari, C. Angelini, Marco Sandri

    Foilsithe / Cruthaithe 2017
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  3. 3
    Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR

    Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR de réir Sara Martignago, Francesco Mari, E Albertini, E. Pegoraro, C. Angelini

    Foilsithe / Cruthaithe 2008
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  4. 4
    Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism

    Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism de réir Giovanna Cenacchi, Francesco Mari, L. Badiali‐De Giorgi, C. Angelini

    Foilsithe / Cruthaithe 2005
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  5. 5
    Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D

    Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D de réir Elisa Bianchini, Francesco Mari, Kamel Mamchaoui, Romeo Betto, Dorianna Sandonà

    Foilsithe / Cruthaithe 2014
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  6. 6
    Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients

    Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients de réir Anna Chiara Nascimbeni, Francesco Mari, Eva Masiero, C. Angelini, Marco Sandri

    Foilsithe / Cruthaithe 2012
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  7. 7
    The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)

    The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII) de réir A. C. Nascimbeni, Francesco Mari, Eva Masiero, C. Angelini, Marco Sandri

    Foilsithe / Cruthaithe 2012
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  8. 8
    A comparison between detectors of high frequency oscillations

    A comparison between detectors of high frequency oscillations de réir Rina Zelmann, Francesco Mari, Julia Jacobs, Maeike Zijlmans, François Dubeau, Jean Gotman

    Foilsithe / Cruthaithe 2011
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  9. 9
    Automatic detector of High Frequency Oscillations for human recordings with macroelectrodes

    Automatic detector of High Frequency Oscillations for human recordings with macroelectrodes de réir Rina Zelmann, Francesco Mari, Julia Jacobs, Maeike Zijlmans, Rahul Chander, Jean Gotman

    Foilsithe / Cruthaithe 2010
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  10. 10
    Generalized Lysosome-Associated Membrane Protein-2 Defect Explains Multisystem Clinical Involvement and Allows Leukocyte Diagnostic Screening in Danon Disease

    Generalized Lysosome-Associated Membrane Protein-2 Defect Explains Multisystem Clinical Involvement and Allows Leukocyte Diagnostic Screening in Danon Disease de réir Francesco Mari, Anna Chiara Nascimbeni, Luigi Fulizio, Marco Spinazzi, Paola Melacini, C. Angelini

    Foilsithe / Cruthaithe 2006
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  11. 11
    Interictal scalp fast oscillations as a marker of the seizure onset zone

    Interictal scalp fast oscillations as a marker of the seizure onset zone de réir Luciana P. A. Andrade‐Valença, François Dubeau, Francesco Mari, Rina Zelmann, Jean Gotman

    Foilsithe / Cruthaithe 2011
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  12. 12
    Loss of Calpain-3 Autocatalytic Activity in LGMD2A Patients with Normal Protein Expression

    Loss of Calpain-3 Autocatalytic Activity in LGMD2A Patients with Normal Protein Expression de réir Francesco Mari, Anna Chiara Nascimbeni, Luigi Fulizio, Carlo P. Trevisan, Marija Meznarič, C. Angelini

    Foilsithe / Cruthaithe 2003
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  13. 13
    Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

    Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy de réir Caterina Millino, Francesco Mari, Andrea Vettori, Paolo Laveder, Maria Luisa Mostacciuolo, C. Angelini, Gerolamo Lanfranchi

    Foilsithe / Cruthaithe 2009
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  14. 14
    Interictal high frequency oscillations (HFOs) in patients with focal epilepsy and normal MRI

    Interictal high frequency oscillations (HFOs) in patients with focal epilepsy and normal MRI de réir Luciana P. A. Andrade‐Valença, Francesco Mari, Julia Jacobs, Maeike Zijlmans, André Olivier, Jean Gotman, François Dubeau

    Foilsithe / Cruthaithe 2011
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  15. 15
    Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies

    Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies de réir Luca Bello, P. Campadello, Andrea Barp, Francesco Mari, Claudio Semplicini, Gianni Sorarù, Luca Caumo, Chiara Calore, C. Angelini, Elena Pegoraro

    Foilsithe / Cruthaithe 2016
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  16. 16
    Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

    Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. de réir Francesco Mari, David Duggan, Maria Luisa Mostacciuolo, Flávia Martinello, M.P. Freda, Gianni Sorarù, Carlo P. Trevisan, Eric P. Hoffman, C. Angelini

    Foilsithe / Cruthaithe 1997
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  17. 17
    Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

    Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations de réir Mafalda Cacciottolo, G. Numitone, Stefania Aurino, Imma Rosaria Caserta, Francesco Mari, L. Politano, Carlo Minetti, Enzo Ricci, Giulio Piluso, C. Angelini, Vincenzo Nigro

    Foilsithe / Cruthaithe 2011
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  18. 18
    Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?

    Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? de réir Francesco Mari, Luigi Fulizio, A. Nascimbeni, Marco Spinazzi, Giulio Piluso, V.M. Ventriglia, G. Ruzza, Gabriele Siciliano, Carlo P. Trevisan, Luisa Politano, Vincenzo Nigro, C. Angelini

    Foilsithe / Cruthaithe 2004
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  19. 19
    Diffusion‐weighted magnetic resonance imaging in patients with partial status epilepticus

    Diffusion‐weighted magnetic resonance imaging in patients with partial status epilepticus de réir Carlo Di Bonaventura, Francesca Bonini, Jinane Fattouch, Francesco Mari, Simona Petrucci, Marco Carnì, Emanuele Tinelli, Patrizià Pantano, Stefano Bastianello, B. Maraviglia, M. Manfredi, Massimiliano Prencipe, Anna Teresa Giallonardo

    Foilsithe / Cruthaithe 2009
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  20. 20
    Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

    Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F de réir Annalaura Torella, Francesco Mari, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, C. Angelini, Vincenzo Nigro

    Foilsithe / Cruthaithe 2013
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