Resultados de procura - Vincenzo Salpietro

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  1. 1
    Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders

    Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders por Sımona Baldassari, Ilaria Musante, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Paolo Scudieri

    Publicado 2020
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  2. 2
    High-mobility group protein B1: a new biomarker of metabolic syndrome in obese children

    High-mobility group protein B1: a new biomarker of metabolic syndrome in obese children por Teresa Arrigo, Valeria Chirico, Vincenzo Salpietro, Caterina Munafò, Valeria Ferraù, Eloisa Gitto, Antonio Lacquaniti, Carmelo Salpietro

    Publicado 2013
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  3. 3
    Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

    Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications por Vincenzo Salpietro, Agata Polizzi, Gabriella Di Rosa, Anna Romeo, Valeria Dipasquale, Paolo Morabito, Valeria Chirico, Teresa Arrigo, Martino Ruggieri

    Publicado 2014
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  4. 4
    Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction

    Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction por Giulia Spoto, Giulia Valentini, Maria Concetta Saia, Ambra Butera, Greta Amore, Vincenzo Salpietro, Antonio Gennaro Nicotera, Gabriella Di Rosa

    Publicado 2022
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  5. 5
    Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis

    Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis por Saverio La Bella, Marta Rinaldi, Armando Di Ludovico, Giulia Di Donato, G. Donato, Vincenzo Salpietro, Francesco Chiarelli, Luciana Breda

    Publicado 2023
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  6. 6
    PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly

    PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly por Jeff Coleman, Ouardane Jouannot, Sathish Ramakrishnan, M. Natalia Zanetti, Jing Wang, Vincenzo Salpietro, Henry Houlden, James E. Rothman, Shyam S. Krishnakumar

    Publicado 2018
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  7. 7
    New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment

    New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment por Antonella Riva, Alice Golda, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari, Gianluca Piccolo, Michele Iacomino, Simona Lattanzi, Vincenzo Salpietro, Carlo Minetti, Pasquale Striano

    Publicado 2021
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  8. 8
    Diagnostic Approach to Macrocephaly in Children

    Diagnostic Approach to Macrocephaly in Children por Andrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, Antonella Riva, Marcello Scala, Ganna Balagura, Vincenzo Salpietro, Francesca Madia, Mohamad Maghnie, Federico Zara, Pasquale Striano, Domenico Tortora, Mariasavina Severino, Valeria Capra

    Publicado 2022
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  9. 9
    Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long‐term follow‐up

    Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long‐term follow‐up por Francesco Nicita, Martino Ruggieri, Agata Polizzi, Laura Mauceri, Vincenzo Salpietro, Silvana Briuglia, Laura Papetti, Fabiana Ursitti, Salvatore Grosso, Luigi Tarani, Maria Segni, Salvatore Savasta, Pasquale Parisi, Alberto Verrotti, Alberto Spalice

    Publicado 2012
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  10. 10
    Pediatric Idiopathic Intracranial Hypertension

    Pediatric Idiopathic Intracranial Hypertension por Claire A. Sheldon, Grace Paley, Rui Xiao, Anat Kesler, Ori Eyal, Melissa W. Ko, Chantal J. Boisvert, Robert A. Avery, Vincenzo Salpietro, Paul H. Phillips, Gena Heidary, Shana E. McCormack, Grant T. Liu

    Publicado 2016
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  11. 11
    A homozygous<i>loss-of-function</i>mutation in<i>PDE2A</i>associated to early-onset hereditary chorea

    A homozygous<i>loss-of-function</i>mutation in<i>PDE2A</i>associated to early-onset hereditary chorea por Vincenzo Salpietro, Belén Pérez‐Dueñas, Kosuke Nakashima, Victoria San Antonio‐Arce, Andreea Manole, Stéphanie Efthymiou, Jana Vandrovcová, Conceição Bettencourt, Niccolò E. Mencacci, Christine Klein, Michy P. Kelly, Ceri H. Davies, Haruhide Kimura, Alfons Macaya, Henry Houlden

    Publicado 2018
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  12. 12
    A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function

    A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function por Vincenzo Salpietro, Stéphanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A. Botía, Mina Ryten, Jana Vandrovcová, Oscar D. Bello, Conceição Bettencourt, Kshitij Mankad, Ashim Mukherjee, Mousumi Mutsuddi, Henry Houlden

    Publicado 2017
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  13. 13
    A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

    A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy por Juliette Piard, George K. E. Umanah, Frederike L. Harms, Leire Abalde-Atristain, Daniel Amram, Melissa Chang, Rong Chen, Malik Alawi, Vincenzo Salpietro, Mark I. Rees, Seo‐Kyung Chung, Henry Houlden, Alain Verloès, Ted M. Dawson, Valina L. Dawson, Lionel Van Maldergem, Kerstin Kutsche

    Publicado 2017
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  14. 14
    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome

    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome por Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stéphanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam S. Krishnakumar, Matthew Pitt, Oscar D. Bello, James E. Rothman, Lina Basel‐Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y. Manzur, Brunhilde Wirth, Henry Houlden

    Publicado 2017
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  15. 15
    Mitochondrial impairment and rescue in riboflavin responsive neuropathy

    Mitochondrial impairment and rescue in riboflavin responsive neuropathy por Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves, Amelie Pandraud, Vincenzo Salpietro, Simon Pope, Marthe H. R. Ludtmann, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, Patrick F. Chinnery, Camilo Toro, Andrew Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamás Révész, Dimitri M. Kullmann, James E.C. Jepson, Henry Houlden

    Publicado 2017
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  16. 16
    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study por Marcello Scala, Irene Schiavetti, Francesca Madia, Cristina Chelleri, Gianluca Piccolo, Andrea Accogli, Antonella Riva, Vincenzo Salpietro, Renata Bocciardi, Guido Morcaldi, Marco Di Duca, Francesco Caroli, Antonio Verrico, Claudia Milanaccio, Gianmaria Viglizzo, Monica Traverso, Sımona Baldassari, Paolo Scudieri, Michele Iacomino, Gianluca Piatelli, Carlo Minetti, Pasquale Striano, Maria Luisa Garrè, Patrizia De Marco, Maria Cristina Diana, Valeria Capra, Marco Pavanello, Federico Zara

    Publicado 2021
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  17. 17
    Delineation of the movement disorders associated with <i>FOXG1</i> mutations

    Delineation of the movement disorders associated with <i>FOXG1</i> mutations por Apostolos Papandreou, Ruth B. Schneider, Erika F. Augustine, Joanne Ng, Kshitij Mankad, Esther Meyer, Amy McTague, Adeline Ngoh, Cheryl Hemingway, Robert Robinson, Sophia Varadkar, Maria Kinali, Vincenzo Salpietro, Margaret C. O'Driscoll, Sheikh Basheer, Richard Webster, Shekeeb S. Mohammad, Shpresa Pula, Marian McGowan, Natalie Trump, Lucy Jenkins, Frances Elmslie, Richard H. Scott, Jane A. Hurst, Belén Pérez‐Dueñas, Alexander Paciorkowski, Manju A. Kurian

    Publicado 2016
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  18. 18
    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy por Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves, Marthe H. R. Ludtmann, Vincenzo Salpietro, Oscar D. Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, Patrick F. Chinnery, Camilo Toro, Andrew Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamás Révész, Dimitri M. Kullmann, James E.C. Jepson, Henry Houlden

    Publicado 2017
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  19. 19
    Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia por Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcová, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James M. Polke, Muhammad Ilyas, Eloise Tribollet, Pedro José Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stéphanie Efthymiou, Diego Kaski, Nicholas Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo M. Bronstein, Pietro Fratta, Wilson Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

    Publicado 2019
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  20. 20
    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia por Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcová, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James M. Polke, Muhammad Ilyas, Eloise Tribollet, Pedro José Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stéphanie Efthymiou, Diego Kaski, Nicholas Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo M. Bronstein, Pietro Fratta, Wilson Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

    Publicado 2019
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