Stephanie Efthymiou

Stephanie Efthymiou

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Stephanie Efthymiou

Stephanie Efthymiou

Publications by authors named "Stephanie Efthymiou"

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28Publications

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Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.

Am J Med Genet A 2019 Aug 20;179(8):1507-1515. Epub 2019 May 20.

School of Biology, College of Science, University of Tehran, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.61184DOI Listing
August 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 Jul 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.

J Neurogenet 2018 12 10;32(4):316-321. Epub 2018 Jul 10.

a Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi" Unit of Child Neurology and Psychiatry , University of Messina , Messina , Italy.

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http://dx.doi.org/10.1080/01677063.2018.1476510DOI Listing
December 2018

PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.

Mov Disord 2018 12 21;33(12):1961-1965. Epub 2018 Oct 21.

Neurodegeneration Imaging Group, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1002/mds.27523DOI Listing
December 2018

Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study.

Epileptic Disord 2018 Oct;20(5):423-427

Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", Unit of Child Neurology and Psychiatry, University of Messina.

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http://dx.doi.org/10.1684/epd.2018.0992DOI Listing
October 2018

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in .

J Pediatr Genet 2018 Sep 14;7(3):114-116. Epub 2018 Jun 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1055/s-0038-1651526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087480PMC
September 2018

A Review of Copy Number Variants in Inherited Neuropathies.

Curr Genomics 2018 Sep;19(6):412-419

Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK.

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http://www.eurekaselect.com/160880/article
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http://dx.doi.org/10.2174/1389202919666180330153316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128387PMC
September 2018

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Am J Hum Genet 2017 Jun;100(6):969-977

Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.ajhg.2017.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473715PMC
June 2017

Analysis of the prion protein gene in multiple system atrophy.

Neurobiol Aging 2017 01 3;49:216.e15-216.e18. Epub 2016 Oct 3.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.09.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5156473PMC
January 2017

Next-generation sequencing in neuromuscular diseases.

Curr Opin Neurol 2016 10;29(5):527-36

aDepartment of Molecular NeurosciencebMRC Centre for Neuromuscular Diseases.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082606PMC
http://dx.doi.org/10.1097/WCO.0000000000000374DOI Listing
October 2016