Search Results - Jana Vandrovcová

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  1. 1
    Applying genomic and transcriptomic advances to mitochondrial medicine

    Applying genomic and transcriptomic advances to mitochondrial medicine by William L. Macken, Jana Vandrovcová, Michael G. Hanna, Robert D. S. Pitceathly

    Published 2021
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  2. 2
    Novel L284R <i>MAPT </i>Mutation in a Family with an Autosomal Dominant Progressive Supranuclear Palsy Syndrome

    Novel L284R <i>MAPT </i>Mutation in a Family with an Autosomal Dominant Progressive Supranuclear Palsy Syndrome by Jonathan D. Rohrer, Dominic Paviour, Jana Vandrovcová, John R. Hodges, Rohan de Silva, Martin N. Rossor

    Published 2010
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  3. 3
    Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences

    Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences by Claudia Manzoni, Demis A. Kia, Jana Vandrovcová, John Hardy, Nicholas Wood, Patrick A. Lewis, Raffaele Ferrari

    Published 2016
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  4. 4
    An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

    An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks by Juan A. Botía, Jana Vandrovcová, Paola Forabosco, Sebastian Guelfi, Karishma D’Sa, John Hardy, Cathryn M. Lewis, Mina Ryten, Michael E. Weale

    Published 2017
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  5. 5
    Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

    Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis by Raffaele Ferrari, Paola Forabosco, Jana Vandrovcová, Juan A. Botía, Sebastian Guelfi, Jason D. Warren, Parastoo Momeni, Michael E. Weale, Mina Ryten, John Hardy

    Published 2016
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  6. 6
    The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

    The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia by Jana Vandrovcová, Ellen Thomas, Santosh S. Atanur, Penny J. Norsworthy, Clare Neuwirth, Yvonne Tan, Dalia Kasperavičiūtė, Jennifer Biggs, Laurence Gamé, Michael Mueller, Anne K. Soutar, Timothy J. Aitman

    Published 2013
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  7. 7
    Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?

    Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important? by Yaroslau Compta, Laura Parkkinen, Sean S. O’Sullivan, Jana Vandrovcová, Janice L. Holton, Claire Collins, Tammaryn Lashley, Constantinos Kallis, D. R. Williams, Rohan de Silva, A. J. Lees, T. Révész

    Published 2011
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  8. 8
    Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

    Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics by Kristina Lagerstedt‐Robinson, Thalia D. Liu, Jana Vandrovcová, B. Halvarsson, Mark Clendenning, Thierry Frébourg, Nikolaos G. Papadopoulos, K. W. Kinzler, Bert Vogelstein, Païvi Peltomäki, Richard D. Kolodner, Mef Nilbert, Annika Lindblom

    Published 2007
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  9. 9
    Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta

    Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta by Ruwan Weerakkody, David Ross, David Parry, Bulat A. Ziganshin, Jana Vandrovcová, Piyush Gampawar, Abdulshakur Abdullah, Jennifer Biggs, Julia Dumfarth, Yousef Ibrahim, Colin Bicknell, Mark Field, John A. Elefteriades, Nick Cheshire, Timothy J. Aitman

    Published 2018
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  10. 10
    Variation in tau isoform expression in different brain regions and disease states

    Variation in tau isoform expression in different brain regions and disease states by Elisa Majounie, William Cross, Victoria Newsway, Allissa Dillman, Jana Vandrovcová, Christopher M. Morris, Michael A. Nalls, Luigi Ferrucci, Michael J. Owen, Michael O’Donovan, Mark Cookson, Andrew Singleton, Rohan de Silva, Huw R. Morris

    Published 2013
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  11. 11
    Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study

    Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study by Penny J. Norsworthy, Jana Vandrovcová, Ellen Thomas, Archie Campbell, Shona M. Kerr, Jennifer Biggs, Laurence Gamé, Anne K. Soutar, Blair H. Smith, Anna F. Dominiczak, David J. Porteous, Andrew D. Morris, Generation Scotland, Timothy J. Aitman

    Published 2014
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  12. 12
    A homozygous<i>loss-of-function</i>mutation in<i>PDE2A</i>associated to early-onset hereditary chorea

    A homozygous<i>loss-of-function</i>mutation in<i>PDE2A</i>associated to early-onset hereditary chorea by Vincenzo Salpietro, Belén Pérez‐Dueñas, Kosuke Nakashima, Victoria San Antonio‐Arce, Andreea Manole, Stéphanie Efthymiou, Jana Vandrovcová, Conceição Bettencourt, Niccolò E. Mencacci, Christine Klein, Michy P. Kelly, Ceri H. Davies, Haruhide Kimura, Alfons Macaya, Henry Houlden

    Published 2018
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  13. 13
    Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

    Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination by Viorica Chelban, Nisha Patel, Jana Vandrovcová, M. Natalia Zanetti, David S. Lynch, Mina Ryten, Juan A. Botía, Oscar D. Bello, Eloise Tribollet, Stéphanie Efthymiou, Indran Davagnanam, Fahad A. Bashiri, Nicholas Wood, James E. Rothman, Fowzan S. Alkuraya, Henry Houlden

    Published 2017
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  14. 14
    MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

    MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies by Daniah Trabzuni, Selina Wray, Jana Vandrovcová, Adaikalavan Ramasamy, Robert Walker, Colin Smith, Connie Luk, J. Raphael Gibbs, Allissa Dillman, Dena Hernández, Sampath Arepalli, Andrew Singleton, Mark Cookson, Alan Pittman, Rohan de Silva, Michael E. Weale, John Hardy, Mina Ryten

    Published 2012
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  15. 15
    A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function

    A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function by Vincenzo Salpietro, Stéphanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A. Botía, Mina Ryten, Jana Vandrovcová, Oscar D. Bello, Conceição Bettencourt, Kshitij Mankad, Ashim Mukherjee, Mousumi Mutsuddi, Henry Houlden

    Published 2017
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  16. 16
    Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

    Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome by Ruwan Weerakkody, Jana Vandrovcová, Christina Kanonidou, Michael Mueller, Piyush Gampawar, Yousef Ibrahim, Penny J. Norsworthy, Jennifer Biggs, Abdulshakur Abdullah, David Ross, Holly A. Black, David Ferguson, Nicholas Cheshire, Hanadi Kazkaz, Rodney Grahame, Neeti Ghali, Anthony Vandersteen, F M Pope, Timothy J. Aitman

    Published 2016
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  17. 17
    Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans

    Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans by Seungbok Lee, Jihoon G. Yoon, Juhyeon Hong, T. Kim, Narae Kim, Jana Vandrovcová, Wai Yan Yau, Jaeso Cho, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jungmin Choi, Jangsup Moon, Jong‐Hee Chae

    Published 2024
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  18. 18
    The heritability and genetics of frontotemporal lobar degeneration

    The heritability and genetics of frontotemporal lobar degeneration by Jonathan D. Rohrer, Rita Guerreiro, Jana Vandrovcová, James Uphill, David Reiman, Jon Beck, Adrian M. Isaacs, Astrid Authier, Raffaele Ferrari, Nick C. Fox, Ian R. Mackenzie, Jason D. Warren, R. De Silva, Janice L. Holton, Tamás Révész, John Hardy, Simon Mead, Martin N. Rossor

    Published 2009
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  19. 19
    Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country

    Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country by Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Christopher J. Record, Lindsay A. Wilson, Gustavo Maximiano Alves, Natalia Dominik, Stéphanie Efthymiou, Krutik Patel, Jana Vandrovcová, Roope Männikkö, Robert D. S. Pitceathly, Cláudia Ferreira da Rosa Sobreira, Robert McFarland, Robert W. Taylor, Henry Houlden, Michael G. Hanna, Mary M. Reilly, Wilson Marques

    Published 2024
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  20. 20
    Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

    Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases by Raffaele Ferrari, Yunpeng Wang, Jana Vandrovcová, Sebastian Guelfi, Aree Witeolar, Celeste M. Karch, Andrew J. Schork, Chun Chieh Fan, James B. Brewer, Parastoo Momeni, Gerard D. Schellenberg, William P. Dillon, Leo P. Sugrue, Christopher P. Hess, Jennifer S. Yokoyama, Luke W. Bonham, Gil D. Rabinovici, Bruce L Miller, Ole A. Andreassen, Anders M. Dale, John Hardy, Rahul S. Desikan

    Published 2016
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