Publications by authors named "Jana Vandrovcova"

57Publications

Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients With Movement Disorders.

Mov Disord 2020 Oct 7. Epub 2020 Oct 7.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.28302DOI Listing
October 2020

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.

Eur J Hum Genet 2020 Sep 15. Epub 2020 Sep 15.

William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.

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http://dx.doi.org/10.1038/s41431-020-00720-wDOI Listing
September 2020

GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.

Ann Neurol 2020 Jun 15. Epub 2020 Jun 15.

Department of Neuromuscular Diseases, Institute of Neurology, University College, London, UK.

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http://dx.doi.org/10.1002/ana.25818DOI Listing
June 2020

GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.

Brain 2020 Jul;143(7):e57

Department of Neuromuscular Diseases, Institute of Neurology, University College London, UK.

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http://dx.doi.org/10.1093/brain/awaa144DOI Listing
July 2020

Prevalence of familial cluster headache: a systematic review and meta-analysis.

J Headache Pain 2020 Apr 25;21(1):37. Epub 2020 Apr 25.

Headache and Facial Pain Group, UCL Institute of Neurology, Queen Square and The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://dx.doi.org/10.1186/s10194-020-01101-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183702PMC
April 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

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

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

FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency.

Br J Haematol 2019 09 6;186(6):e163-e165. Epub 2019 Jun 6.

Centre for Haematology, Faculty of Medicine, Imperial College London, London, UK.

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http://dx.doi.org/10.1111/bjh.15979DOI Listing
September 2019

loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Ann Clin Transl Neurol 2018 02 22;5(2):216-221. Epub 2018 Jan 22.

Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom.

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http://dx.doi.org/10.1002/acn3.522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817843PMC
February 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

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.

BMC Syst Biol 2017 04 12;11(1):47. Epub 2017 Apr 12.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, WC1N, UK.

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http://dx.doi.org/10.1186/s12918-017-0420-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389000PMC
April 2017

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis.

Mol Neurodegener 2016 Feb 24;11:21. Epub 2016 Feb 24.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Russell Square House, 9-12 Russell Square House, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1186/s13024-016-0085-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765225PMC
February 2016

α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders.

Circ Cardiovasc Genet 2014 Dec 4;7(6):920-9. Epub 2014 Nov 4.

From the Department of Medicine, Imperial College London, London, United Kingdom (M.R.W., J.W., C.J.R., S.R.); National Academy of Sciences of Kyrgyz Republic, Bishkek, Kyrgyz Republic (A.A.A.); Physiological Genomics and Medicine Group, MRC Clinical Sciences Centre, Hammersmith Hospital, London, United Kingdom (J.V., T.J.A.); NIHR BRC Clinical Genome Informatics Facility, Imperial College London, London, United Kingdom (D.K., S.G.B., M.M.); Cardiology Research, Bayer Pharma AG, Wuppertal, Germany (S.G., J.-P.S.); Department of Pharmacology, The School of Pharmacy, Martin-Luther-University, Halle, Germany (J.-P.S.); Department of Pulmonary Pharmacotherapy, University of Giessen and Marburg Lung Center, Giessen, Germany (B.K.); Department of Medicine, University of Cambridge, Cambridge, United Kingdom (N.W.M.); Department of Pharmacology, Toxicology, and Clinical Pharmacy, University of Braunschweig-Center of Pharmaceutical Engineering, Braunschweig, Germany (I.N., S.B.); and Department of Chemistry, The Scripps Research Institute, La Jolla, CA (N.B.S., M.A.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000763DOI Listing
December 2014

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.

Neurobiol Aging 2014 Jun 13;35(6):1514.e1-12. Epub 2014 Jan 13.

Reta Lila Weston Institute, UCL Institute of Neurology, London, UK; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104112PMC
June 2014

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Genet Med 2013 Dec 16;15(12):948-57. Epub 2013 May 16.

MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, UK.

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http://dx.doi.org/10.1038/gim.2013.55DOI Listing
December 2013

Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome.

Neurodegener Dis 2011 14;8(3):149-52. Epub 2010 Sep 14.

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1159/000319454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078284PMC
July 2011

Differential DJ-1 gene expression in Parkinson's disease.

Neurobiol Dis 2009 Nov 28;36(2):393-400. Epub 2009 Aug 28.

Reta Lila Weston Institute of Neurological Disease, Institute of Neurology, University College London, 1, Wakefield Street, WC1N 1PJ, UK.

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http://dx.doi.org/10.1016/j.nbd.2009.08.011DOI Listing
November 2009

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease.

Neurobiol Aging 2009 Sep 26;30(9):1477-82. Epub 2007 Dec 26.

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2007.11.019DOI Listing
September 2009

Somatic BRAF-V600E mutations in familial colorectal cancer.

Cancer Epidemiol Biomarkers Prev 2006 Nov;15(11):2270-3

Department of Molecular Medicine and Surgery, Karolinska Hospital, S-17176 Stockholm, Sweden.

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http://dx.doi.org/10.1158/1055-9965.EPI-06-0359DOI Listing
November 2006