نتائج البحث - Nardo Nardocci

تنقيح النتائج
  1. 1
    Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

    Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families حسب Nardo Nardocci, Giovanna Zorzi, Chiara Barzaghi, Federica Zibordi, José Berciano, Daniele Ghezzi, Barbara Garavaglia

    منشور في 2007
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

    Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts حسب Maria Clara Zanellati, Valentina Monti, Chiara Barzaghi, Chiara Reale, Nardo Nardocci, Alberto Albanese, Enza Maria Valente, Daniele Ghezzi, Barbara Garavaglia

    منشور في 2015
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    Sporadic and familial glut1ds Italian patients: A wide clinical variability

    Sporadic and familial glut1ds Italian patients: A wide clinical variability حسب Valentina De Giorgis, Federica Teutonico, Cristina Cereda, Umberto Balottin, Marika Bianchi, Lucio Giordano, Sara Olivotto, Francesca Ragona, Anna Tagliabue, Giovanna Zorzi, Nardo Nardocci, Pierangelo Veggiotti

    منشور في 2014
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    EFNS guidelines on diagnosis and treatment of primary dystonias

    EFNS guidelines on diagnosis and treatment of primary dystonias حسب Alberto Albanese, Friedrich Asmus, Kailash P. Bhatia, Antonio E. Elia, Bülent Elibol, Graziella Filippini, Thomas Gasser, Joachim K. Krauss, Nardo Nardocci, A. Newton, Josep Valls‐Solé

    منشور في 2010
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  5. 5
    GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments

    GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments حسب María Novelli, Serena Galosi, Giovanna Zorzi, Simone Martinelli, Alessandro Capuano, Francesca Nardecchia, Tiziana Granata, Luca Pollini, Martina Di Rocco, Carlo Efisio Marras, Nardo Nardocci, Vincenzo Leuzzi

    منشور في 2023
    احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  6. 6
    Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with <i>CLN6</i> mutations

    Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with <i>CLN6</i> mutations حسب Laura Canafoglia, Isabella Gilioli, Federica Invernizzi, Vito Sofia, Valeria Fugnanesi, Michela Morbin, Luisa Chiapparini, Tiziana Granata, S. Binelli, V. Scaioli, Barbara Garavaglia, Nardo Nardocci, Samuel F. Berkovic, Silvana Franceschetti

    منشور في 2015
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  7. 7
    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy حسب Filippo M. Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini, Alessandro Simonati

    منشور في 2013
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  8. 8
    Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

    Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN) حسب Penelope Hogarth, Manju A. Kurian, Allison Gregory, Barbara Csányi, Tamara Zagustin, Tomasz Kmieć, Patricia M. Wood, Angelika Klucken, Natale A. Scalise, Francesca Sofia, Thomas Klopstock, Giovanna Zorzi, Nardo Nardocci, Susan J. Hayflick

    منشور في 2016
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  9. 9
    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations حسب Valerio Leoni, Laura Strittmatter, Giovanna Zorzi, Federica Zibordi, Sabrina Dusi, Barbara Garavaglia, Paola Venco, Claudio Caccia, Amanda L. Souza, Amy Deik, Clary B. Clish, Marco Rimoldi, Emilio Ciusani, Enrico Bertini, Nardo Nardocci, Vamsi K. Mootha, Valeria Tiranti

    منشور في 2011
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  10. 10
    ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

    ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients حسب Miryam Carecchio, Niccolò E. Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P. Bhatia, Valentina Monti, Lea R’Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, María Stamelou, Nardo Nardocci

    منشور في 2017
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  11. 11
    Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub>

    Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub> حسب Allison Gregory, S. K. Westaway, Ida E. Holm, Paul T. Kotzbauer, P. Hogarth, Scott Sonek, Jason Coryell, Thuy Minh Nguyen, Nardo Nardocci, Giovanna Zorzi, Diana Rodriguez, Isabelle Desguerre, Enrico Bertini, Alessandro Simonati, Barbara Levinson, Cristina Dias, Clara Barbot, Inês Carrilho, Mariline Santos, Ibrahim Malik, Jane Gitschier, S. J. Hayflick

    منشور في 2008
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  12. 12
    Frequency and phenotypic spectrum of <i>KMT2B</i> dystonia in childhood: A single‐center cohort study

    Frequency and phenotypic spectrum of <i>KMT2B</i> dystonia in childhood: A single‐center cohort study حسب Miryam Carecchio, Federica Invernizzi, Paulina González-Latapí, Celeste Panteghini, Giovanna Zorzi, Luigi Romito, Vincenzo Leuzzi, Serena Galosi, Chiara Reale, Federica Zibordi, Agnel Praveen Joseph, Maya Topf, Carla Piano, Anna Rita Bentivoglio, F. Girotti, Paolo Morana, Benedetto Morana, Manju A. Kurian, Barbara Garavaglia, Niccolò E. Mencacci, Steven Lubbe, Nardo Nardocci

    منشور في 2019
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  13. 13
    The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study

    The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study حسب James Varley, Alastair J.S. Webb, Bettina Balint, Victor S.C. Fung, Kapil D. Sethi, Marina A.J. Tijssen, Timothy Lynch, Shekeeb S. Mohammad, Fiona Britton, Matthew C. Evans, Yael Hacohen, Jean‐Pierre Lin, Nardo Nardocci, Tiziana Granata, Russell C. Dale, Ming Lim, Kailash P. Bhatia, Anthony E. Lang, Sarosh R. Irani

    منشور في 2018
    احصل على النص الكامل احصل على النص الكامل
    Carta
    أضف إلى المفضلة
    محفوظ في:
  14. 14
    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation حسب Sabrina Dusi, Lorella Valletta, Tobias B. Haack, Yugo Tsuchiya, Paola Venco, Sebastiano Pasqualato, P Goffrini, Marco Tigano, Nikita Demchenko, Thomas Wieland, Thomas Schwarzmayr, Tim M. Strom, Federica Invernizzi, Barbara Garavaglia, Allison Gregory, Lynn Sanford, Jeffrey Hamada, Conceição Bettencourt, Henry Houlden, Luisa Chiapparini, Giovanna Zorzi, Manju A. Kurian, Nardo Nardocci, Holger Prokisch, Susan J. Hayflick, Ivan Gout, Valeria Tiranti

    منشور في 2013
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  15. 15
    Transitional Care for Young People with Movement Disorders: <scp>Consensus‐Based</scp> Recommendations from the <scp>MDS</scp> Task Force on Pediatrics

    Transitional Care for Young People with Movement Disorders: <scp>Consensus‐Based</scp> Recommendations from the <scp>MDS</scp> Task Force on Pediatrics حسب Tamara Pringsheim, Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi‐Fakhari, Jennifer Friedman, Jean‐Pierre Lin, Jonathan W. Mink, Alexander Münchau, Daniela Muñoz, Nardo Nardocci, Belén Pérez‐Dueñas, Zomer Sardar, Chahnez Triki, Hilla Ben‐Pazi, Laura Silveira‐Moriyama, Monica Troncoso‐Schifferli, Kyoko Hoshino, Russell C. Dale, Victor S.C. Fung, Manju A. Kurian, Emmanuel Roze

    منشور في 2023
    احصل على النص الكامل احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  16. 16
    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron حسب Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangül, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C. Trembath, Alessandro Simonati, Carolyn Schanen, Colin A. Johnson, Barbara Levinson, C. Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R. Maher, Susan J. Hayflick

    منشور في 2006
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  17. 17
    De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

    De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions حسب Niccolò E. Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, Lea R’Bibo, David S. Lynch, Bettina Balint, Michèl A.A.P. Willemsen, Matthew Adams, Sarah Wiethoff, Kazunori Suzuki, Ceri H. Davies, Joanne Ng, Esther Meyer, Liana Veneziano, Paola Giunti, Deborah Hughes, F. Lucy Raymond, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Chiara Barzaghi, Barbara Garavaglia, Vincenzo Salpietro, John Hardy, Alan Pittman, Henry Houlden, Manju A. Kurian, Haruhide Kimura, Lisenka E.L.M. Vissers, Nicholas Wood, Kailash P. Bhatia

    منشور في 2016
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  18. 18
    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia حسب Niccolò E. Mencacci, Ignacio Rubio‐Agusti, Anselm A. Zdebik, Friedrich Asmus, Marthe H. R. Ludtmann, Mina Ryten, Vincent Plagnol, Ann‐Kathrin Hauser, Sara Bandrés‐Ciga, Conceição Bettencourt, Paola Forabosco, Deborah Hughes, Marc P. M. Soutar, Kathryn J. Peall, Huw R. Morris, Daniah Trabzuni, Mehmet Tekman, Horia Stanescu, Robert Kleta, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Barbara Garavaglia, Ebba Lohmann, Anne Weißbach, Christine Klein, John Hardy, Alan Pittman, Thomas Foltynie, Andrey Y. Abramov, Thomas Gasser, Kailash P. Bhatia, Nicholas Wood

    منشور في 2015
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  19. 19
    Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

    Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA حسب Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland, Thomas Schwarzmayr, Elisabeth Graf, Lynn Sanford, Esther Meyer, Eleanna Kara, Stephan M. Cuno, Sami I. Harik, Vasuki Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark A. Tarnopolsky, Steven A. Skinner, Steven J. Frucht, Era Hanspal, Connie Schrander‐Stumpel, Delphine Héron, Cyril Mignot, Barbara Garavaglia, Kailash P. Bhatia, John Hardy, Tim M. Strom, Nathalie Boddaert, Henry Houlden, Manju A. Kurian, Thomas Meitinger, Holger Prokisch, Susan J. Hayflick

    منشور في 2012
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  20. 20
    Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

    Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review حسب Jessica Garau, Vanessa Cavallera, Marialuisa Valente, Davide Tonduti, Daisy Sproviero, Susanna Zucca, Domenica Battaglia, Roberta Battini, Enrico Bertini, Silvia Cappanera, Luisa Chiapparini, Camilla Crasà, Giovanni Crichiutti, Elvio Dalla Giustina, Stefano D’Arrigo, Valentina De Giorgis, Micaela De Simone, Jessica Galli, Roberta La Piana, Tullio Messana, Isabella Moroni, Nardo Nardocci, Celeste Panteghini, Cecilia Parazzini, Anna Pichiecchio, Antonella Pini, Federica Ricci, Veronica Saletti, E. Salvatici, Filippo M. Santorelli, Stefano Sartori, Francesca Tinelli, C. Uggetti, E. Veneselli, Giovanna Zorzi, Barbara Garavaglia, Elisa Fazzi, Simona Orcesi, Cristina Cereda

    منشور في 2019
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: