Hasil Pencarian - Adele D’amico

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  1. 1
    A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

    A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in So... oleh Adele D’Amico, Adele D’Amico, Fabiana Fattori, Fabiana Fattori, Francesco Nicita, Francesco Nicita, Sabina Barresi, Giorgio Tasca, Margherita Verardo, Simone Pizzi, Isabella Moroni, Francesca De Mitri, Annalia Frongia, Marika Pane, Eugenio Mercuri, Marco Tartaglia, Enrico Bertini, Enrico Bertini

    Diterbitkan 2020-09-01
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  2. 2
    Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

    Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias oleh Anna Modoni, Adele D'Amico, Guido Primiano, Fiorentino Capozzoli, Jean-François Desaphy, Mauro Lo Monaco, Mauro Lo Monaco

    Diterbitkan 2020-05-01
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  3. 3
    A New Case of Autosomal-Dominant <i>POLR3B</i>-Related Disorder: Widening Genotypic and Phenotypic <i>Spectrum</i>

    A New Case of Autosomal-Dominant <i>POLR3B</i>-Related Disorder: Widening Genotypic and Phenotypic <i>Spectrum</i> oleh Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D’Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita

    Diterbitkan 2023-11-01
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  4. 4
    Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study.

    Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study. oleh Daniela Chieffo, Claudia Brogna, Angela Berardinelli, Grazia D'Angelo, Maria Mallardi, Adele D'Amico, Paolo Alfieri, Eugenio Mercuri, Marika Pane

    Diterbitkan 2015-01-01
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  5. 5
    Novel Splicing Mutation in <i>MTM1</i> Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

    Novel Splicing Mutation in <i>MTM1</i> Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy oleh Luca Bosco, Daniela Leone, Laura Costa Comellas, Mauro Monforte, Marika Pane, Eugenio Mercuri, Enrico Bertini, Adele D’Amico, Fabiana Fattori

    Diterbitkan 2022-09-01
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  6. 6
    Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

    Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies oleh Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini

    Diterbitkan 2021-10-01
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  7. 7
    Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

    Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies oleh Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini

    Diterbitkan 2022-01-01
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  8. 8
    Functional and Morphological Improvement of Dystrophic Muscle by Interleukin 6 Receptor Blockade

    Functional and Morphological Improvement of Dystrophic Muscle by Interleukin 6 Receptor Blockade oleh Laura Pelosi, Maria Grazia Berardinelli, Loredana De Pasquale, Carmine Nicoletti, Adele D'Amico, Francesco Carvello, Gian Marco Moneta, Angela Catizone, Enrico Bertini, Fabrizio De Benedetti, Antonio Musarò

    Diterbitkan 2015-04-01
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  9. 9
    Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients

    Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients oleh Tommaso Nuzzo, Rosita Russo, Francesco Errico, Adele D’Amico, Awet G. Tewelde, Mariangela Valletta, Amber Hassan, Michele Tosi, Chiara Panicucci, Claudio Bruno, Enrico Bertini, Angela Chambery, Livio Pellizzoni, Alessandro Usiello

    Diterbitkan 2023-02-01
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  10. 10
    Cardiovascular Involvement in Pediatric <i>FLNC</i> Variants: A Case Series of Fourteen Patients

    Cardiovascular Involvement in Pediatric <i>FLNC</i> Variants: A Case Series of Fourteen Patients oleh Anwar Baban, Viola Alesi, Monia Magliozzi, Giovanni Parlapiano, Silvia Genovese, Marianna Cicenia, Sara Loddo, Valentina Lodato, Luca Di Chiara, Fabiana Fattori, Adele D’Amico, Paola Francalanci, Antonio Amodeo, Antonio Novelli, Fabrizio Drago

    Diterbitkan 2022-09-01
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  11. 11
    Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome

    Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome oleh Paolo Alfieri, Francesca Cumbo, Giulia Serra, Monia Trasolini, Camilla Frattini, Francesco Scibelli, Serena Licchelli, Flavia Cirillo, Cristina Caciolo, Maria Pia Casini, Adele D’Amico, Marco Tartaglia, Maria Cristina Digilio, Rossella Capolino, Stefano Vicari

    Diterbitkan 2021-02-01
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  12. 12
    SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy

    SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy oleh Valeria Valsecchi, Francesco Errico, Valentina Bassareo, Carmen Marino, Tommaso Nuzzo, Paola Brancaccio, Giusy Laudati, Antonella Casamassa, Manuela Grimaldi, Adele D’Amico, Manolo Carta, Enrico Bertini, Giuseppe Pignataro, Anna Maria D’Ursi, Alessandro Usiello

    Diterbitkan 2023-11-01
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  13. 13
    Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

    Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? oleh Stefano Vicari, Giorgia Piccini, Eugenio Mercuri, Roberta Battini, Daniela Chieffo, Sara Bulgheroni, Chiara Pecini, Simona Lucibello, Sara Lenzi, Federica Moriconi, Marika Pane, Adele D'Amico, Guja Astrea, Giovanni Baranello, Daria Riva, Giovanni Cioni, Paolo Alfieri

    Diterbitkan 2018-01-01
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  14. 14
    Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy

    Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy oleh Francesco Errico, Carmen Marino, Manuela Grimaldi, Tommaso Nuzzo, Valentina Bassareo, Valeria Valsecchi, Chiara Panicucci, Elia Di Schiavi, Tommaso Mazza, Claudio Bruno, Adele D’Amico, Manolo Carta, Anna Maria D’Ursi, Enrico Bertini, Livio Pellizzoni, Alessandro Usiello

    Diterbitkan 2022-10-01
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  15. 15
    Growth patterns in children with spinal muscular atrophy

    Growth patterns in children with spinal muscular atrophy oleh Ramona De Amicis, Giovanni Baranello, Andrea Foppiani, Alessandro Leone, Alberto Battezzati, Giorgio Bedogni, Simone Ravella, Ester Giaquinto, Chiara Mastella, Caterina Agosto, Enrico Bertini, Adele D’Amico, Marina Pedemonte, Claudio Bruno, Jonathan C. Wells, Mary Fewtrell, Simona Bertoli

    Diterbitkan 2021-09-01
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  16. 16
    Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

    Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition oleh Daniela Piga, Martina Rimoldi, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi, Stefania Corti, Stefania Corti

    Diterbitkan 2024-03-01
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  17. 17
    Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

    Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? oleh Maria Carmela Pera, Giorgia Coratti, Beatrice Berti, Adele D'Amico, Maria Sframeli, Emilio Albamonte, Roberto de Sanctis, Sonia Messina, Michela Catteruccia, Giorgia Brigati, Laura Antonaci, Simona Lucibello, Claudio Bruno, Valeria A Sansone, Enrico Bertini, Danilo Tiziano, Marika Pane, Eugenio Mercuri

    Diterbitkan 2020-01-01
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  18. 18
    WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy

    WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy oleh Kevin A. Strauss, Vincent J. Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E. Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P. Lowes, Megan Iammarino, Lindsay N. Alfano, Karlla W. Brigatti

    Diterbitkan 2023-11-01
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  19. 19
    Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.

    Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy. oleh Eugenio Mercuri, Giorgia Coratti, Sonia Messina, Valeria Ricotti, Giovanni Baranello, Adele D'Amico, Maria Carmela Pera, Emilio Albamonte, Serena Sivo, Elena Stacy Mazzone, Maria Teresa Arnoldi, Lavinia Fanelli, Roberto De Sanctis, Domenico M Romeo, Gian Luca Vita, Roberta Battini, Enrico Bertini, Francesco Muntoni, Marika Pane

    Diterbitkan 2016-01-01
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  20. 20
    Human skeletal myopathy myosin mutations disrupt myosin head sequestration

    Human skeletal myopathy myosin mutations disrupt myosin head sequestration oleh Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala

    Diterbitkan 2023-11-01
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