Esther Meyer

Esther Meyer

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Esther Meyer

Esther Meyer

Publications by authors named "Esther Meyer"

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Nocebo effects of a simplified package leaflet compared to unstandardised oral information and a standard package leaflet: a pilot randomised controlled trial.

Trials 2019 Jul 26;20(1):458. Epub 2019 Jul 26.

Institute for Research in Operative Medicine, Witten/Herdecke University, Ostmerheimer Str. 200, 51109, Cologne, Germany.

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http://dx.doi.org/10.1186/s13063-019-3565-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660653PMC
July 2019

Beta-propeller-associated neurodegeneration can present with dominant or isolated parkinsonism.

Mov Disord 2018 04 28;33(4):654-656. Epub 2018 Feb 28.

Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, Australia.

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http://dx.doi.org/10.1002/mds.27294DOI Listing
April 2018

Clinical and molecular characterization of -related severe early-onset epilepsy.

Neurology 2018 01 1;90(1):e55-e66. Epub 2017 Dec 1.

From Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754647PMC
January 2018

Modeling normativity in sustainability: a comparison of the sustainable development goals, the Paris agreement, and the papal encyclical.

Sustain Sci 2018 29;13(3):785-796. Epub 2017 Oct 29.

6Faculty of Sustainability, Institute for Ethics and Transdisciplinary Sustainability Research (IETSR), Leuphana University Lüneburg, Center for Global Sustainability and Cultural Transformation (CGSC), Universitätsallee 1, 21335 Lüneburg, Germany.

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http://dx.doi.org/10.1007/s11625-017-0504-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086283PMC
October 2017

Mutations in a Sibship with Multifocal Polymyoclonus.

Tremor Other Hyperkinet Mov (N Y) 2017 13;7:452. Epub 2017 Apr 13.

Neurosciences Unit, University College London, Institute of Child Health, London, UK.

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http://dx.doi.org/10.7916/D8Q52VBVDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395678PMC
April 2017

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.

Annu Rev Genomics Hum Genet 2015 8;16:257-79. Epub 2015 May 8.

Molecular Neurosciences, Developmental Neurosciences Programme, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; email: ,

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http://www.annualreviews.org/doi/10.1146/annurev-genom-09031
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http://dx.doi.org/10.1146/annurev-genom-090314-025011DOI Listing
May 2016

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

J Med Genet 2016 05 18;53(5):310-7. Epub 2016 Mar 18.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK Genetics and Genomic Medicine Unit, University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862068PMC
May 2016

Delineation of the movement disorders associated with FOXG1 mutations.

Neurology 2016 05 30;86(19):1794-800. Epub 2016 Mar 30.

From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862244PMC
May 2016

RARS2 mutations in a sibship with infantile spasms.

Epilepsia 2016 May 8;57(5):e97-e102. Epub 2016 Apr 8.

Molecular Neurosciences, Developmental Neurosciences Programme, UCL-Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1111/epi.13358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864753PMC
May 2016

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

Dev Med Child Neurol 2016 Apr 9;58(4):416-20. Epub 2015 Dec 9.

Department of Neurology, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1111/dmcn.12976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864756PMC
April 2016

The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Brain 2015 Dec 23;138(Pt 12):3567-80. Epub 2015 Nov 23.

1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 4 Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK

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http://dx.doi.org/10.1093/brain/awv310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655345PMC
December 2015

Mutation in Atypical Rett Syndrome with Brain Iron Accumulation.

Mov Disord Clin Pract 2015 Mar 24;2(1):81-83. Epub 2015 Feb 24.

Department of Neurology Essex Center for Neurological Sciences Queen's Hospital Romford Essex United Kingdom.

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http://dx.doi.org/10.1002/mdc3.12120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353382PMC
March 2015

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.

Dev Med Child Neurol 2014 Nov 29;56(11):1124-8. Epub 2014 Mar 29.

Neurosciences Unit, Developmental Neurosciences, University College London, Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1111/dmcn.12450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230412PMC
November 2014

Comparison of 3D turbo spin-echo SPACE sequences with conventional 2D MRI sequences to assess the shoulder joint.

Eur J Radiol 2014 Oct 30;83(10):1843-9. Epub 2014 Jun 30.

Diagnostic and Interventional Radiology, University Hospital Heidelberg, Im Neuenheimer Feld 110, D-69120 Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejrad.2014.06.011DOI Listing
October 2014

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.

Dev Med Child Neurol 2014 Jul 31;56(7):642-8. Epub 2013 Oct 31.

MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1111/dmcn.12323DOI Listing
July 2014

Normalized metal artifact reduction in head and neck computed tomography.

Invest Radiol 2012 Jul;47(7):415-21

Department of Radiology, University of Erlangen, Erlangen, Germany.

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http://dx.doi.org/10.1097/RLI.0b013e3182532f17DOI Listing
July 2012

Frequency split metal artifact reduction (FSMAR) in computed tomography.

Med Phys 2012 Apr;39(4):1904-16

Institute of Medical Physics, University of Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1118/1.3691902DOI Listing
April 2012

Copy number profiling in von Hippel-Lindau disease renal cell carcinoma.

Genes Chromosomes Cancer 2011 Jul 31;50(7):479-88. Epub 2011 Mar 31.

Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, UK.

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http://dx.doi.org/10.1002/gcc.20865DOI Listing
July 2011

Exact dual energy material decomposition from inconsistent rays (MDIR).

Med Phys 2011 Feb;38(2):691-700

Institute of Medical Physics, University of Erlangen-Nürnberg, Henkestrasse 91, D-91052 Erlangen, Germany.

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http://doi.wiley.com/10.1118/1.3533686
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http://dx.doi.org/10.1118/1.3533686DOI Listing
February 2011

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.

Brain 2010 Oct 9;133(10):2964-70. Epub 2010 Sep 9.

Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, UK.

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http://dx.doi.org/10.1093/brain/awq238DOI Listing
October 2010

Empirical beam hardening correction (EBHC) for CT.

Med Phys 2010 Oct;37(10):5179-87

Institute of Medical Physics, University of Erlangen-Nürnberg, 91052 Erlangen, Germany.

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http://dx.doi.org/10.1118/1.3477088DOI Listing
October 2010

Normalized metal artifact reduction (NMAR) in computed tomography.

Med Phys 2010 Oct;37(10):5482-93

Institute of Medical Physics, University of Erlangen-Nürnberg, D-91052 Erlangen, Germany.

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http://dx.doi.org/10.1118/1.3484090DOI Listing
October 2010

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

Mol Vis 2010 Apr 13;16:650-64. Epub 2010 Apr 13.

Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2855733PMC
April 2010

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.

Mol Genet Metab 2010 Mar 16;99(3):325-8. Epub 2009 Nov 16.

Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1016/j.ymgme.2009.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852677PMC
March 2010

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

Mol Vis 2009 May 18;15:1014-9. Epub 2009 May 18.

Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684559PMC
May 2009

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

PLoS Genet 2009 Mar 20;5(3):e1000423. Epub 2009 Mar 20.

Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK.

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http://dx.plos.org/10.1371/journal.pgen.1000423
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http://dx.doi.org/10.1371/journal.pgen.1000423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650258PMC
March 2009

ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features.

J Pediatr Endocrinol Metab 2008 Jan;21(1):59-62

Institute of Human Genetics, RWTH Aachen, Germany.

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http://dx.doi.org/10.1515/jpem.2008.21.1.59DOI Listing
January 2008

No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.

J Pediatr Endocrinol Metab 2007 Dec;20(12):1329-31

Institute of Human Genetics, Technical University of Aachen, Germany.

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http://dx.doi.org/10.1515/jpem.2007.20.12.1329DOI Listing
December 2007

The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.

J Med Genet 2007 Jan 8;44(1):59-63. Epub 2006 Sep 8.

Institute of Human Genetics, Pauwelsstr 30, D-52074 Aachen, Germany.

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http://dx.doi.org/10.1136/jmg.2006.044370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597902PMC
January 2007

Diagnostic proceeding in Silver-Russell syndrome.

Mol Diagn 2005 ;9(4):205-9

Institute of Human Genetics, Aachen, Germany.

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http://dx.doi.org/10.1007/bf03260093DOI Listing
March 2006

Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients.

Mol Genet Metab 2004 Jul;82(3):246-50

Institute of Human Genetics, University Hospital, RWTH, Aachen, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2004.04.008DOI Listing
July 2004