Publications by authors named "Stephanie Efthymiou"

49Publications

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 Aug 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.

J Neurol Sci 2020 Jul 7;414:116826. Epub 2020 Apr 7.

Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2020.116826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7306150PMC
July 2020

-related disease is associated with central pontine calcifications and atypical parkinsonism.

Neurol Genet 2020 Apr 20;6(2):e399. Epub 2020 Feb 20.

Department of Neuromuscular Diseases (V.C., S.E., L.S., J.V., V.S., N.W.W., H.H.), UCL Queen Square Institute of Neurology; National Hospital for Neurology and Neurosurgery (V.C., S.E., L.S., J.V., V.S., N.W.W., H.H.), Queen Square, London, UK; Department of Neurology and Neurosurgery (V.C., S.G.), Institute of Emergency Medicine, Chisinau, Republic of Moldova; Department of Neuroscience (M.C.), University of Padua, Italy; Northern Ireland Regional Genetics Service (G.R., P.J.M.), Belfast City Hospital, UK; Department of Neuroscience (A.B.), Interdisciplinary Center (IDC) Herzliya, Israel; Department of Paediatrics & Child Health (S.K., F.J., S.I., F.K., Z.Q.), Aga Khan University, Karachi, Pakistan; Department of Neurology (L.M.), Eastern Piedmont University, Novara, Italy; Department of Neurology (E.S., D.P.) and Department of Neuroradiology (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Clinical Neurology (N.B.), University of Nottingham, UK; Department of Clinical and Movement Neurosciences (B.B., K.P.B., N.W.W.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (B.B.), Heidelberg University Hospital, Germany; Reta Lila Weston Institute (A.L.), UCL Queen Square Institute of Neurology, London, UK; and Medical Genetics and Neurogenetics Unit (B.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073457PMC
April 2020

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.

BMC Med Genet 2020 03 24;21(1):59. Epub 2020 Mar 24.

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

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http://dx.doi.org/10.1186/s12881-020-00998-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092478PMC
March 2020

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

Epileptic Disord 2020 Feb;22(1):111-115

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.1684/epd.2020.1138DOI Listing
February 2020

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.

J Neurol Sci 2020 Apr 11;411:116669. Epub 2020 Jan 11.

University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan.

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http://dx.doi.org/10.1016/j.jns.2020.116669DOI Listing
April 2020

The genetics of intellectual disability: advancing technology and gene editing.

F1000Res 2020 16;9. Epub 2020 Jan 16.

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

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http://dx.doi.org/10.12688/f1000research.16315.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966773PMC
January 2020

A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration.

J Neurol Sci 2020 03 19;410:116639. Epub 2019 Dec 19.

Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard Karls-University, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.116639DOI Listing
March 2020

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035241PMC
March 2020

A truncating mutation in associated with segmental overgrowth.

J Genet 2019 Dec;98

Department of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.

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December 2019

Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach.

Neurol Sci 2020 Apr 6;41(4):851-857. Epub 2019 Dec 6.

Neurogenetics, Institute of Neurology, University College London, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s10072-019-04113-wDOI Listing
April 2020

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

Nat Commun 2019 07 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

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 08 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

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

Am J Hum Genet 2019 05 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

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

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

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

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 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

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

La réponse interféron de type I est-elle efficace pour contrôler l'infection par HTLV-1 ?

Virologie (Montrouge) 2012 Dec;16(6):356-370

École normale supérieure, Master Biosciences, département de biologie, 46, allée d'Italie, 69007 Lyon, France, Inserm U758, oncogenèse rétrovirale, 46, allée d'Italie, 69007 Lyon, France, École normale supérieure, 46, allée d'Italie, 69007 Lyon, France.

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http://dx.doi.org/10.1684/vir.2012.0469DOI Listing
December 2012