Hasil Pencarian - Marcello Scala

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  1. 1
    The Pathophysiological Link Between Reelin and Autism: Overview and New Insights

    The Pathophysiological Link Between Reelin and Autism: Overview and New Insights oleh Marcello Scala, Marcello Scala, Eleonora A. Grasso, Giuseppe Di Cara, Antonella Riva, Antonella Riva, Pasquale Striano, Pasquale Striano, Alberto Verrotti

    Diterbitkan 2022-03-01
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  2. 2
    Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What’s behind Neuro-RACopathies

    Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What’s behind Neuro-RACopathies oleh Marcello Scala, Masashi Nishikawa, Koh-ichi Nagata, Pasquale Striano

    Diterbitkan 2021-12-01
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  3. 3
    V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities

    V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities oleh Antonio Falace, Greta Volpedo, Marcello Scala, Federico Zara, Pasquale Striano, Anna Fassio

    Diterbitkan 2024-08-01
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  4. 4
    Symptomatic eating epilepsy: two novel pediatric patients and review of literature

    Symptomatic eating epilepsy: two novel pediatric patients and review of literature oleh Fabiana Vercellino, Laura Siri, Giacomo Brisca, Marcello Scala, Antonella Riva, Mariasavina Severino, Pasquale Striano

    Diterbitkan 2021-06-01
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  5. 5
    Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?

    Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? oleh Cristina Chelleri, Cristina Chelleri, Marcello Scala, Marcello Scala, Patrizia De Marco, Monica Traverso, Marzia Ognibene, Irene Bruno, Gianluca Piccolo, Pasquale Striano, Pasquale Striano, Mariasavina Severino, Federico Zara, Maria Cristina Diana, Marco Pavanello

    Diterbitkan 2023-02-01
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  6. 6
    Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia

    Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia oleh Ferruccio Romano, Elisabetta Amadori, Elisabetta Amadori, Francesca Madia, Mariasavina Severino, Valeria Capra, Renata Rizzo, Rita Barone, Beatrice Corradi, Beatrice Corradi, Luca Maragliano, Luca Maragliano, Mohammad Sadegh Shams Nosrati, Antonio Falace, Pasquale Striano, Pasquale Striano, Federico Zara, Federico Zara, Marcello Scala, Marcello Scala

    Diterbitkan 2023-12-01
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  7. 7
    Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

    Human mutations in SLITRK3 implicated in GABAergic synapse development in mice oleh Stephanie Efthymiou, Stephanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala, Marcello Scala, Marcello Scala, Nancy T. Malintan, Muhammad Ilyas, Nikoleta Vavouraki, Nikoleta Vavouraki, Kshitij Mankad, Kshitij Mankad, Reza Maroofian, Clarissa Rocca, Vincenzo Salpietro, Shenela Lakhani, Eric J. Mallack, Timothy Blake Palculict, Hong Li, Guojun Zhang, Guojun Zhang, Faisal Zafar, Nuzhat Rana, Noriko Takashima, Hayato Matsunaga, Claudia Manzoni, Pasquale Striano, Pasquale Striano, Mark F. Lythgoe, Jun Aruga, Jun Aruga, Wei Lu, Henry Houlden

    Diterbitkan 2024-03-01
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  8. 8
    Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

    Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants oleh Marcello Scala, Midas Anijs, Roberta Battini, Francesca Madia, Valeria Capra, Paolo Scudieri, Alberto Verrotti, Federico Zara, Carlo Minetti, Sonja C. Vernes, Pasquale Striano

    Diterbitkan 2021-10-01
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  9. 9
    Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review

    Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review oleh Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso, Mariasavina Severino, Stefano Gustincich, Valeria Capra, Marco Di Duca, Federico Zara, Marcello Scala, Pasquale Striano

    Diterbitkan 2023-12-01
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  10. 10
    RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome

    RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome oleh Giulia Romanisio, Cristina Chelleri, Marcello Scala, Gianluca Piccolo, Barbara Carlini, Laura Gatti, Valeria Capra, Federico Zara, Anna Bersano, Marco Pavanello, Patrizia De Marco, Maria Cristina Diana

    Diterbitkan 2021-06-01
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  11. 11
    Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

    Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development oleh Michele Iacomino, Simona Baldassari, Yuki Tochigi, Katarzyna Kośla, Francesca Buffelli, Annalaura Torella, Annalaura Torella, Mariasavina Severino, Dario Paladini, Luana Mandarà, Antonella Riva, Marcello Scala, Marcello Scala, Ganna Balagura, Ganna Balagura, Andrea Accogli, Andrea Accogli, Vincenzo Nigro, Vincenzo Nigro, Carlo Minetti, Carlo Minetti, Ezio Fulcheri, Ezio Fulcheri, Federico Zara, Federico Zara, Andrzej K. Bednarek, Pasquale Striano, Pasquale Striano, Hiroetsu Suzuki, Vincenzo Salpietro, Vincenzo Salpietro, Vincenzo Salpietro

    Diterbitkan 2020-06-01
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  12. 12
    Biallelic Variants in <i>KIF17</i> Associated with Microphthalmia and Coloboma Spectrum

    Biallelic Variants in <i>KIF17</i> Associated with Microphthalmia and Coloboma Spectrum oleh Antonella Riva, Antonella Gambadauro, Valeria Dipasquale, Celeste Casto, Maria Domenica Ceravolo, Andrea Accogli, Marcello Scala, Giorgia Ceravolo, Michele Iacomino, Federico Zara, Pasquale Striano, Caterina Cuppari, Gabriella Di Rosa, Maria Concetta Cutrupi, Vincenzo Salpietro, Roberto Chimenz

    Diterbitkan 2021-04-01
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  13. 13
    A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

    A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome oleh Antonella Riva, Antonella Riva, Giulia Nobile, Thea Giacomini, Thea Giacomini, Marzia Ognibene, Marcello Scala, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Vincenzo Salpietro, Annalaura Torella, Annalaura Torella, Vincenzo Nigro, Vincenzo Nigro, Valeria Capra, Lino Nobili, Lino Nobili, Pasquale Striano, Pasquale Striano, Maria Margherita Mancardi, Maria Margherita Mancardi, Federico Zara, Federico Zara, Michele Iacomino, Michele Iacomino

    Diterbitkan 2022-04-01
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  14. 14
    Diagnostic Approach to Macrocephaly in Children

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

    Diterbitkan 2022-01-01
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  15. 15
    Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

    Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project oleh Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale Striano

    Diterbitkan 2020-07-01
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  16. 16
    Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

    Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X oleh Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne

    Diterbitkan 2022-11-01
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  17. 17
    Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

    Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles oleh Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond

    Diterbitkan 2024-05-01
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  18. 18
    Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin

    Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin oleh Isabelle Boothman, Isabelle Boothman, Isabelle Boothman, Lisa M. Clayton, Lisa M. Clayton, Mark McCormack, Alexandra McKibben Driscoll, Remi Stevelink, Patrick Moloney, Roland Krause, Wolfram S. Kunz, Sarah Diehl, Terence J. O’Brien, Graeme J. Sills, Gerrit-Jan de Haan, Federico Zara, Federico Zara, Bobby P. Koeleman, Chantal Depondt, Anthony G. Marson, Hreinn Stefansson, Kari Stefansson, John Craig, Michael R. Johnson, Pasquale Striano, Pasquale Striano, Holger Lerche, Simon J. Furney, Norman Delanty, Consortium EpiPGX, Sanjay M. Sisodiya, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Gianpiero L. Cavalleri, Gianpiero L. Cavalleri, Joseph Willis, Mojgansadat Borghei, Simona Donatello, Martin J. Brodie, Pauls Auce, Andrea Jorgensen, Sarah R. Langley, Yvonne Weber, Christian Hengsbach, Martin Krenn, Fritz Zimprich, Ekaterina Pataraia, Karl Martin Klein, Hiltrud Muhle, Rikke S. Møller, Marina Nikanorova, Stefan Wolking, Ellen Campbell, Antonella Riva, Marcello Scala

    Diterbitkan 2023-09-01
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  19. 19
    Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

    Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation oleh Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake

    Diterbitkan 2024-01-01
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  20. 20
    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies oleh Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

    Diterbitkan 2024-03-01
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