Stephanie Efthymiou - UCL Queen Square Institute of Neurology

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个人简介

Stephanie Efthymiou currently works at the Department of Molecular Neuroscience, University College London. Stephanie does research in Genetics, Neuroscience and Molecular Pathology. Their current project is 'Synaptopathies '.

研究兴趣

论文共 202 篇作者统计合作学者相似作者

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Human Mutations in SLITRK3 Implicated in GABAergic Synapse Development in Mice

Stephanie Efthymiou,Wenyan Han,Muhammad Ilyas,Jun Li,Yichao Yu,Marcello Scala,Nancy T. Malintan,Nikoleta Vavouraki,Kshitij Mankad,Reza Maroofian,Clarissa Rocca,Vincenzo Salpietro,

FRONTIERS IN MOLECULAR NEUROSCIENCE（2024）

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Novel Loss-of-function Variants Expand ABCC9-related Intellectual Disability and Myopathy Syndrome

Stephanie Efthymiou,Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska,Fenne L. Komdeur, Robin A. Liang,Mohamed S. Abdel-Hamid,Tipu Sultan,Tuva Baroy,Marijke Van Ghelue,Barbara Vona,Reza Maroofian,

BRAINno. 5 (2024): 1822-1836

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Natural History of NARS1 Associated Neurodevelopmental Disorder

Irem Karagoz,Henry Houlden,Stephanie Efthymiou

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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SORD AND SORD2P INVERSION: LONG READ SEQUENCING IDENTIFIES A NOVEL GENETIC MECHANISM UNDERLYING INHERITED NEUROPATHY

Elisa Vegezzi,Arianna Manini,Stefano Facchini,Chiara Pisciotta,Adriana Rebelo, Jacquelyn Schatzman,Ricardo P. Schnekenberg,Riccardo Curro,Natalia Dominik,Stephanie Efthymiou,Tiffany Grider,Shawna M. E. Feely,

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S49-S50

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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 et al . (2022)

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,

ACTA NEUROPATHOLOGICA COMMUNICATIONS（2024）

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The First Genetically Confirmed Cohort of Facioscapulohumeral Muscular Dystrophy from Northern India

Venugopalan Y. Vishnu,Richard J. L. F. Lemmers,Alisha Reyaz,Rinkle Mishra, Tanveer Ahmad,Patrick J. van der Vliet, Marcelina M. Kretkiewicz,William L. Macken,Stephanie Efthymiou,Natalia Dominik,Jasper M. Morrow,Rohit Bhatia,

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Combined Central and Peripheral Demyelination in Two Siblings, Immune Mediated or Genetic

Kaminie Moodley,Anandan A. Moodley,Stephanie Efthymiou,Henry Houlden,Pierre L. A. Bill,Vinod B. Patel,Simon Rinaldi

PRACTICAL NEUROLOGYno. 5 (2024): 422-427

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TRAPPC6B Biallelic Variants Cause a Neurodevelopmental Disorder with TRAPP II and Trafficking Disruptions

Hashem Almousa,Sara A. Lewis,Somayeh Bakhtiari, Sandra Hinz Nordlie,Alex Pagnozzi,Helen Magee,Stephanie Efthymiou,Jennifer A. Heim,Patricia Cornejo,Maha S. Zaki,Najwa Anwar,Shazia Maqbool,

BRAINno. 1 (2024): 311-324

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Whole Exome Sequencing Identifies Variable Expressivity of CLN6 Variants in Progressive Myoclonic Epilepsy Affected Families

Muhammad Ilyas, Faiza Tariq,Rafaqat Ishaq,Umme Habiba,Farah Bibi,Sadiq Noor Khan, Yasir Ali, Shehzad Haider,Stephanie Efthymiou,Uzma Abdullah,Ghazala Kaukab Raja,Pakeeza Arzoo Shaiq

EPILEPSY RESEARCH (2024)

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Biallelic NUDT2 Variants Defective in Mrna Decapping Cause a Neurodevelopmental Disease

Ralf A. Husain,Xinfu Jiao,J. Christopher Hennings, Jan Giesecke,Geeta Palsule,Stefanie Beck-Woedl, Dina Osmanovic,Kathrine Bjorgo,Asif Mir,Muhammad Ilyas, Saad M. Abbasi,Stephanie Efthymiou,

BRAIN（2024）

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