Stéphanie Efthymiou

Author

Stéphanie Efthymiou

Also Known As

Efthymiou, S, Efthymiou, Stephanie, Faisal Zafar, Henry Houlden, Reza Maroofian, S Efthymiou, S. Efthymiou, Stephanie Efthymiou, Stéphanie Efthymiou

228

Publications

4.4K

Citations

H-Index

Concepts

All Affiliations

University College London National Hospital for Neurology and Neurosurgery Inserm Istituti di Ricovero e Cura a Carattere Scientifico St George's, University of London

About

Stéphanie Efthymiou is an author at University College London specializing in medicine, neuroscience, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	25	1.4K
2	Social Sciences	8	9	616
3	Health Sciences	3	3	104
4	Natural Sciences	2	2	98
5	Biochemistry	1	1	46

Stéphanie Efthymiou

Publications

3.6K

Citations

H-Index

Page 1

	Year	Citations
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia Andrea Cortese, Roberto Simone, Roisin Sullivan, Nature Genetics Biallelic ExpansionNeurological DisorderGenetic DisorderIntronic RepeatLate-onset Ataxia	2019	564
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Nature Communications	2019	236
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion Andrea Cortese, Stefano Tozza, Wai Yan Yau, Brain Vestibular Areflexia SyndromeMotor DysfunctionNeurological DisorderCorticobasal DegenerationPathology	2020	213
<i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy Riccardo Curró, Alessandro Salvalaggio, Stefano Tozza, Brain Neurological DisorderDiagnosisNeuropathic PainCommon Neurological DisordersSocial Sciences	2021	128
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas, The American Journal of Human Genetics Synaptic PlasticityMolecular NeuroscienceDevelopmental BiologyBrain DevelopmentNeuroanatomy	2019	117
The genetics of intellectual disability: advancing technology and gene editing Muhammad Ilyas, Asif Mir, Stéphanie Efthymiou, F1000Research	2020	106
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons Scott C. Bell, Justine Rousseau, Huashan Peng, The American Journal of Human Genetics Neurodevelopmental DisordersHuman NeuronsSynaptic PlasticityMolecular NeuroscienceDevelopmental Biology	2019	87
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome Shereen G. Ghosh, Kerstin Becker, He Huang, The American Journal of Human Genetics Biallelic MutationsGenetic DisorderEncoding Adp-ribosylhydrolase 3GeneticsInherited Metabolic Disease	2018	85
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane, The American Journal of Human Genetics	2020	81
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment Massimo Zollo, Veronica Ferrucci, Vincenzo Salpietro, Brain Brain DevelopmentGeneticsMolecular BiologyNeurodevelopmentCerebral Organoid	2017	72

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