Showing 1 - 12 results of 12 for search 'Stephanie Efthymiou', query time: 0.66s
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Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in <i>VPS13D</i>-Related Disorder by Martje G. Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann
Published 2023-01-01
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A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation by Ikram Ullah, Muhammad Waqas, Muhammad Ilyas, Sobia Ahsan Halim, Akmal Ahmad, Natalia Dominik, Wahid Ullah, Muhammad Abbas, Muhammad Aamir, Henry Houlden, Stephanie Efthymiou, Ajmal Khan, Ahmed Al-Harrasi
Published 2023-11-01
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Human mutations in SLITRK3 implicated in GABAergic synapse development in mice by 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
Published 2024-03-01
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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders by Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, Naveed Altaf Malik, Joakim Klar, Stephanie Efthymiou, Niklas Dahl, Henry Houlden, Mathias Toft, Shahid Mahmood Baig, Ambrin Fatima, Zafar Iqbal
Published 2023-07-01
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Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn by Stephanie Efthymiou, Luiz E. Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F. Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Helio A. G. Teive, Henry Houlden
Published 2023-10-01
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NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron by Antonella Gambadauro, Giuseppe Donato Mangano, Karol Galletta, Francesca Granata, Antonella Riva, Laura Massella, Isabella Guzzo, Giovanni Farello, Giovanna Scorrano, Ludovica Di Francesco, Giulio Di Donato, Carolina Ianni, Armando Di Ludovico, Saverio La Bella, Pasquale Striano, Stephanie Efthymiou, Henry Houlden, Rosaria Nardello, Roberto Chimenz
Published 2023-11-01
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Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat Expansions by Stefano Facchini, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi, Ilaria Quartesan, Benedetta Perrone, Shahedah Koya Kutty, Valentina Galassi Deforie, Ricardo P. Schnekenberg, Elena Abati, Anna Pichiecchio, Enza Maria Valente, Cristina Tassorelli, Mary M. Reilly, Henry Houlden, Enrico Bugiardini, Andrea Cortese
Published 2023-10-01
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Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome by Celeste Casto, Valeria Dipasquale, Ida Ceravolo, Antonella Gambadauro, Emanuela Aliberto, Karol Galletta, Francesca Granata, Giorgia Ceravolo, Emanuela Falzia, Antonella Riva, Gianluca Piccolo, Maria Concetta Cutrupi, Pasquale Striano, Andrea Accogli, Federico Zara, Gabriella Di Rosa, Eloisa Gitto, Elisa Calì, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden, Roberto Chimenz
Published 2021-08-01
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Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges by Stephanie Efthymiou, Richard J. L. F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, Elisa Vegezzi, Sabrina Ravaglia, Lindsay Wilson, Patrick J. van der Vliet, Rinkle Mishra, Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia, James M. Polke, Mv Padma Srivastava, Andrea Cortese, Henry Houlden, Silvère M. van der Maarel, Michael G. Hanna, Enrico Bugiardini
Published 2023-10-01
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Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park e... by Huihui Luo, Emil K. Gustavsson, Hannah Macpherson, Natalia Dominik, Kristina Zhelcheska, Kylie Montgomery, Claire Anderson, Wai Yan Yau, Stephanie Efthymiou, Chris Turner, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Tamas Revesz, Tammaryn Lashley, Glenda Halliday, Dominic B. Rowe, Emily McCann, Ian Blair, Andrew J. Lees, Pentti J. Tienari, Anu Suomalainen, Laura Molina-Porcel, Gabor G. Kovacs, Ellen Gelpi, John Hardy, Matti J. Haltia, Arianna Tucci, Zane Jaunmuktane, Mina Ryten, Henry Houlden, Zhongbo Chen
Published 2024-01-01
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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications by Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Published 2024-03-01
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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders by Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Published 2023-07-01
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