Works matching AU Vandrovcova, Jana

Results: 54
    1
    2

    A loss‐of‐function homozygous mutation in <italic>DDX59</italic> implicates a conserved DEAD‐box RNA helicase in nervous system development and function.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 187, doi. 10.1002/humu.23368
    By:
    • Salpietro, Vincenzo;
    • Efthymiou, Stephanie;
    • Manole, Andreea;
    • Maurya, Bhawana;
    • Wiethoff, Sarah;
    • Ashokkumar, Balasubramaniem;
    • Cutrupi, Maria Concetta;
    • Dipasquale, Valeria;
    • Manti, Sara;
    • Botia, Juan A.;
    • Ryten, Mina;
    • Vandrovcova, Jana;
    • Bello, Oscar D.;
    • Bettencourt, Conceicao;
    • Mankad, Kshitij;
    • Mukherjee, Ashim;
    • Mutsuddi, Mousumi;
    • Houlden, Henry
    Publication type:
    Article
    3
    4
    5

    SORL1 mutation in a Greek family with Parkinson's disease and dementia.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 1961, doi. 10.1002/acn3.51433
    By:
    • Xiromerisiou, Georgia;
    • Bourinaris, Thomas;
    • Houlden, Henry;
    • Lewis, Patrick A.;
    • Senkevich, Konstantin;
    • Hammer, Monia;
    • Federoff, Monica;
    • Khan, Alaa;
    • Spanaki, Cleanthe;
    • Hadjigeorgiou, Georgios M.;
    • Bonstanjopoulou, Sevasti;
    • Fidani, Liana;
    • Ermolaev, Aleksey;
    • Gan‐Or, Ziv;
    • Singleton, Andrew;
    • Vandrovcova, Jana;
    • Hardy, John
    Publication type:
    Article
    6
    7
    8
    9
    10

    Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

    Published in:
    Genes, 2025, v. 16, n. 2, p. 169, doi. 10.3390/genes16020169
    By:
    • Rocca, Clarissa;
    • Murphy, David;
    • Clarkson, Chris;
    • Zanovello, Matteo;
    • Gagliardi, Delia;
    • Genomics, Queen Square;
    • Kaiyrzhanov, Rauan;
    • Alvi, Javeria;
    • Maroofian, Reza;
    • Efthymiou, Stephanie;
    • Sultan, Tipu;
    • Vandrovcova, Jana;
    • Polke, James;
    • Labrum, Robyn;
    • Houlden, Henry;
    • Tucci, Arianna
    Publication type:
    Article
    11

    Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

    Published in:
    Nature Genetics, 2011, v. 43, n. 7, p. 699, doi. 10.1038/ng.859
    By:
    • Höglinger, Günter U.;
    • Melhem, Nadine M.;
    • Dickson, Dennis W.;
    • Sleiman, Patrick M. A.;
    • Li-San Wang;
    • Klei, Lambertus;
    • Rademakers, Rosa;
    • de Silva, Rohan;
    • Litvan, Irene;
    • Riley, David E.;
    • van Swieten, John C.;
    • Heutink, Peter;
    • Wszolek, Zbigniew K.;
    • Uitti, Ryan J.;
    • Vandrovcova, Jana;
    • Hurtig, Howard I.;
    • Gross, Rachel G.;
    • Maetzler, Walter;
    • Goldwurm, Stefano;
    • Tolosa, Eduardo
    Publication type:
    Article
    12
    13

    A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.

    Published in:
    2018
    By:
    • Salpietro, Vincenzo;
    • Perez‐Dueñas, Belen;
    • Nakashima, Kosuke;
    • San Antonio‐Arce, Victoria;
    • Manole, Andreea;
    • Efthymiou, Stephanie;
    • Vandrovcova, Jana;
    • Bettencourt, Conceicao;
    • Mencacci, Niccolò E.;
    • Klein, Christine;
    • Kelly, Michy P.;
    • Davies, Ceri H.;
    • Kimura, Haruhide;
    • Macaya, Alfons;
    • Houlden, Henry;
    • Perez-Dueñas, Belen;
    • San Antonio-Arce, Victoria
    Publication type:
    journal article
    14

    Profiling complex repeat expansions in RFC1 in Parkinson's disease.

    Published in:
    NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00723-0
    By:
    • Alvarez Jerez, Pilar;
    • Daida, Kensuke;
    • Miano-Burkhardt, Abigail;
    • Iwaki, Hirotaka;
    • Malik, Laksh;
    • Cogan, Guillaume;
    • Makarious, Mary B.;
    • Sullivan, Roisin;
    • Vandrovcova, Jana;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Markham, Androo;
    • Nalls, Mike A.;
    • Kesharwani, Rupesh K.;
    • Sedlazeck, Fritz J.;
    • Casey, Bradford;
    • Hardy, John;
    • Houlden, Henry;
    • Blauwendraat, Cornelis;
    • Singleton, Andrew B.
    Publication type:
    Article
    15

    The South Asian Genome.

    Published in:
    PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0102645
    By:
    • Chambers, John C.;
    • Abbott, James;
    • Zhang, Weihua;
    • Turro, Ernest;
    • Scott, William R.;
    • Tan, Sian-Tsung;
    • Afzal, Uzma;
    • Afaq, Saima;
    • Loh, Marie;
    • Lehne, Benjamin;
    • O'Reilly, Paul;
    • Gaulton, Kyle J.;
    • Pearson, Richard D.;
    • Li, Xinzhong;
    • Lavery, Anita;
    • Vandrovcova, Jana;
    • Wass, Mark N.;
    • Miller, Kathryn;
    • Sehmi, Joban;
    • Oozageer, Laticia
    Publication type:
    Article
    16

    Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated <i>LRRK2</i> Locus.

    Published in:
    PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070724
    By:
    • Trabzuni, Daniah;
    • Ryten, Mina;
    • Emmett, Warren;
    • Ramasamy, Adaikalavan;
    • Lackner, Karl J.;
    • Zeller, Tanja;
    • Walker, Robert;
    • Smith, Colin;
    • Lewis, Patrick A.;
    • Mamais, Adamantios;
    • de Silva, Rohan;
    • Vandrovcova, Jana;
    • Hernandez, Dena;
    • Nalls, Michael A.;
    • Sharma, Manu;
    • Garnier, Sophie;
    • Lesage, Suzanne;
    • Simon-Sanchez, Javier;
    • Gasser, Thomas;
    • Heutink, Peter
    Publication type:
    Article
    17

    Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

    Published in:
    Brain Communications, 2024, v. 6, n. 6, p. 1, doi. 10.1093/braincomms/fcae342
    By:
    • Frezatti, Rodrigo Siqueira Soares;
    • Tomaselli, Pedro José;
    • Record, Christopher J;
    • Wilson, Lindsay A;
    • Alves, Gustavo Maximiano;
    • Dominik, Natalia;
    • Efthymiou, Stephanie;
    • Patel, Krutik;
    • Vandrovcova, Jana;
    • Männikkö, Roope;
    • Pitceathly, Robert D S;
    • Sobreira, Claudia Ferreira da Rosa;
    • McFarland, Robert;
    • Taylor, Robert W;
    • Houlden, Henry;
    • Hanna, Michael G;
    • Reilly, Mary M;
    • Marques, Wilson
    Publication type:
    Article
    18
    19

    Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.

    Published in:
    2020
    By:
    • Mencacci, Niccolò E;
    • Reynolds, Regina;
    • Ruiz, Sonia Garcia;
    • Vandrovcova, Jana;
    • Forabosco, Paola;
    • Sánchez-Ferrer, Alvaro;
    • Volpato, Viola;
    • Consortium, UK Brain Expression;
    • Consortium, International Parkinson's Disease Genomics;
    • Weale, Michael E;
    • Bhatia, Kailash P;
    • Webber, Caleb;
    • Hardy, John;
    • Botía, Juan A;
    • Ryten, Mina;
    • UK Brain Expression Consortium;
    • International Parkinson’s Disease Genomics Consortium
    Publication type:
    journal article
    20
    21
    22
    23
    24

    Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.

    Published in:
    2021
    By:
    • Poole, Olivia V.;
    • Pizzamiglio, Chiara;
    • Murphy, David;
    • Falabella, Micol;
    • Macken, William L.;
    • Bugiardini, Enrico;
    • Woodward, Cathy E.;
    • Labrum, Robyn;
    • Efthymiou, Stephanie;
    • Salpietro, Vincenzo;
    • Chelban, Viorica;
    • Kaiyrzhanov, Rauan;
    • Maroofian, Reza;
    • Amato, Anthony A.;
    • Gregory, Allison;
    • Hayflick, Susan J.;
    • Jonvik, Hallgeir;
    • Wood, Nicholas;
    • Houlden, Henry;
    • Vandrovcova, Jana
    Publication type:
    journal article
    25
    26
    27

    PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

    Published in:
    2019
    By:
    • Chelban, Viorica;
    • Wilson, Matthew P.;
    • Warman Chardon, Jodi;
    • Vandrovcova, Jana;
    • Zanetti, M. Natalia;
    • Zamba‐Papanicolaou, Eleni;
    • Efthymiou, Stephanie;
    • Pope, Simon;
    • Conte, Maria R.;
    • Abis, Giancarlo;
    • Liu, Yo‐Tsen;
    • Tribollet, Eloise;
    • Haridy, Nourelhoda A.;
    • Botía, Juan A.;
    • Ryten, Mina;
    • Nicolaou, Paschalis;
    • Minaidou, Anna;
    • Christodoulou, Kyproula;
    • Kernohan, Kristin D.;
    • Eaton, Alison
    Publication type:
    journal article
    28

    Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2007, v. 99, n. 4, p. 291, doi. 10.1093/jnci/djk051
    By:
    • Lagerstedt Robinson, Kristina;
    • Tao Liu;
    • Vandrovcova, Jana;
    • Halvarsson, Britta;
    • Clendenning, Mark;
    • Frebourg, Thierry;
    • Papadopoulos, Nickolas;
    • Kinzler, Kenneth W.;
    • Vogelstein, Bert;
    • Peitomäki, Pälvi;
    • Kolodner, Richard D.;
    • Nilbert, Mef;
    • Lindblom, Annika
    Publication type:
    Article
    29
    30
    31
    32
    33
    34
    35

    A glimpse of the genetics of young‐onset Parkinson's disease in Central Asia.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1671
    By:
    • Kaiyrzhanov, Rauan;
    • Aitkulova, Akbota;
    • Vandrovcova, Jana;
    • Murphy, David;
    • Zharkinbekova, Nazira;
    • Shashkin, Chingiz;
    • Akhmetzhanov, Vadim;
    • Kaishibayeva, Gulnaz;
    • Karimova, Altynay;
    • Myrzayev, Zhanybek;
    • Murray, Malgorzata;
    • Khaibullin, Talgat;
    • Hardy, John;
    • Houlden, Henry
    Publication type:
    Article
    36
    37

    MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 18, p. 4094, doi. 10.1093/hmg/dds238
    By:
    • Trabzuni, Daniah;
    • Wray, Selina;
    • Vandrovcova, Jana;
    • Ramasamy, Adaikalavan;
    • Walker, Robert;
    • Smith, Colin;
    • Luk, Connie;
    • Gibbs, J. Raphael;
    • Dillman, Allissa;
    • Hernandez, Dena G.;
    • Arepalli, Sampath;
    • Singleton, Andrew B.;
    • Cookson, Mark R.;
    • Pittman, Alan M.;
    • de Silva, Rohan;
    • Weale, Michael E.;
    • Hardy, John;
    • Ryten, Mina
    Publication type:
    Article
    38

    Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22262-5
    By:
    • Chen, Zhongbo;
    • Zhang, David;
    • Reynolds, Regina H.;
    • Gustavsson, Emil K.;
    • García-Ruiz, Sonia;
    • D'Sa, Karishma;
    • Fairbrother-Browne, Aine;
    • Vandrovcova, Jana;
    • International Parkinson's Disease Genomics Consortium (IPDGC);
    • Noyce, Alastair J.;
    • Kaiyrzhanov, Rauan;
    • Middlehurst, Ben;
    • Kia, Demis A.;
    • Tan, Manuela;
    • Morris, Huw R.;
    • Plun-Favreau, Helene;
    • Holmans, Peter;
    • Trabzuni, Daniah;
    • Bras, Jose;
    • Quinn, John
    Publication type:
    Article
    39
    40
    41
    42
    43

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

    Published in:
    Movement Disorders, 2021, v. 36, n. 1, p. 251, doi. 10.1002/mds.28302
    By:
    • Yau, Wai Yan;
    • Vandrovcova, Jana;
    • Sullivan, Roisin;
    • Chen, Zhongbo;
    • Zecchinelli, Anna;
    • Cilia, Roberto;
    • Stefano, Duga;
    • Murray, Malgorzata;
    • Carmona, Susana;
    • Chelban, Viorica;
    • Ishiura, Hiroyuki;
    • Tsuji, Shoji;
    • Jaunmuktane, Zane;
    • Turner, Chris;
    • Wood, Nicholas W.;
    • Houlden, Henry
    Publication type:
    Article
    44

    Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-14483-x
    By:
    • Guelfi, Sebastian;
    • D'Sa, Karishma;
    • Botía, Juan A.;
    • Vandrovcova, Jana;
    • Reynolds, Regina H.;
    • Zhang, David;
    • Trabzuni, Daniah;
    • Collado-Torres, Leonardo;
    • Thomason, Andrew;
    • Quijada Leyton, Pedro;
    • Gagliano Taliun, Sarah A.;
    • Nalls, Mike A.;
    • International Parkinson's Disease Genomics Consortium (IPDGC);
    • Noyce, Alastair J.;
    • Nicolas, Aude;
    • Cookson, Mark R.;
    • Bandres-Ciga, Sara;
    • Gibbs, J. Raphael;
    • Hernandez, Dena G.;
    • Singleton, Andrew B.
    Publication type:
    Article
    45

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

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10910-w
    By:
    • Salpietro, Vincenzo;
    • Dixon, Christine L.;
    • Guo, Hui;
    • Bello, Oscar D.;
    • Vandrovcova, Jana;
    • Efthymiou, Stephanie;
    • Maroofian, Reza;
    • Heimer, Gali;
    • Burglen, Lydie;
    • Valence, Stephanie;
    • Torti, Erin;
    • Hacke, Moritz;
    • Rankin, Julia;
    • Tariq, Huma;
    • Colin, Estelle;
    • Procaccio, Vincent;
    • Striano, Pasquale;
    • Mankad, Kshitij;
    • Lieb, Andreas;
    • Chen, Sharon
    Publication type:
    Article
    46

    Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03014-8
    By:
    • Bisschoff, Michelle;
    • Smuts, Izelle;
    • Dercksen, Marli;
    • Schoonen, Maryke;
    • Vorster, Barend C.;
    • van der Watt, George;
    • Spencer, Careni;
    • Naidu, Kireshnee;
    • Henning, Franclo;
    • Meldau, Surita;
    • McFarland, Robert;
    • Taylor, Robert W.;
    • Patel, Krutik;
    • Fassad, Mahmoud R.;
    • Vandrovcova, Jana;
    • Wanders, Ronald J. A.;
    • van der Westhuizen, Francois H.
    Publication type:
    Article
    47

    Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease.

    Published in:
    Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12186
    By:
    • Chelban, Viorica;
    • Breza, Marianthi;
    • Szaruga, Maria;
    • Vandrovcova, Jana;
    • Murphy, David;
    • Lee, Chia‐Ju;
    • Alikhwan, Sondos;
    • Bourinaris, Thomas;
    • Vavougios, George;
    • Ilyas, Muhammad;
    • Halim, Sobia Ahsan;
    • Al‐Harrasi, Ahmed;
    • Kartanou, Chrisoula;
    • Ronald, Coras;
    • Blumcke, Ingmar;
    • Alexoudi, Athanasia;
    • Gatzonis, Stylianos;
    • Stefanis, Leonidas;
    • Karadima, Georgia;
    • Wood, Nicholas W.
    Publication type:
    Article
    48
    49

    Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46354-0
    By:
    • Chelban, Viorica;
    • Aksnes, Henriette;
    • Maroofian, Reza;
    • LaMonica, Lauren C.;
    • Seabra, Luis;
    • Siggervåg, Anette;
    • Devic, Perrine;
    • Shamseldin, Hanan E.;
    • Vandrovcova, Jana;
    • Murphy, David;
    • Richard, Anne-Claire;
    • Quenez, Olivier;
    • Bonnevalle, Antoine;
    • Zanetti, M. Natalia;
    • Kaiyrzhanov, Rauan;
    • Salpietro, Vincenzo;
    • Efthymiou, Stephanie;
    • Schottlaender, Lucia V.;
    • Morsy, Heba;
    • Scardamaglia, Annarita
    Publication type:
    Article
    50

    Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

    Published in:
    Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1147-9
    By:
    • Jansen, Iris E.;
    • Hui Ye;
    • Heetveld, Sasja;
    • Lechler, Marie C.;
    • Michels, Helen;
    • Seinstra, Renée I.;
    • Lubbe, Steven J.;
    • Drouet, Valérie;
    • Lesage, Suzanne;
    • Majounie, Elisa;
    • Gibbs, J. Raphael;
    • Nalls, Mike A.;
    • Ryten, Mina;
    • Botia, Juan A.;
    • Vandrovcova, Jana;
    • Simon-Sanchez, Javier;
    • Castillo-Lizardo, Melissa;
    • Rizzu, Patrizia;
    • Blauwendraat, Cornelis;
    • Chouhan, Amit K.
    Publication type:
    Article