Works by Jacques, Martin

Results: 138
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    Climatological Aspects of Notable Tornado Events in Chile.

    Published in:
    Monthly Weather Review, 2024, v. 152, n. 8, p. 1803, doi. 10.1175/MWR-D-23-0249.1
    By:
    • Marín, Julio C.;
    • Gutiérrez, Felipe;
    • Gensini, Vittorio A.;
    • Barrett, Bradford S.;
    • Pozo, Diana;
    • Jacques-Coper, Martín;
    • Veloso-Aguila, Daniel
    Publication type:
    Article
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    Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis.

    Published in:
    Clinical Infectious Diseases, 2006, v. 42, n. 8, p. 1111, doi. 10.1086/501356
    By:
    • De Vriese, An S.;
    • Van Coster, Rudy;
    • Smet, Joél;
    • Seneca, Sara;
    • Lovering, Andrew;
    • Van Haute, Lindsey L.;
    • Vanopdenbosch, Ludo J.;
    • Martin, Jean-Jacques;
    • Ceuterick-de Groote, Chantal;
    • Vandecasteele, Stefaan;
    • Boelaert, Johan R.
    Publication type:
    Article
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    Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

    Published in:
    Nature, 2006, v. 442, n. 7105, p. 920, doi. 10.1038/nature05017
    By:
    • Cruts, Marc;
    • Gijselinck, Ilse;
    • van der Zee, Julie;
    • Engelborghs, Sebastiaan;
    • Wils, Hans;
    • Pirici, Daniel;
    • Rademakers, Rosa;
    • Vandenberghe, Rik;
    • Dermaut, Bart;
    • Martin, Jean-Jacques;
    • van Duijn, Cornelia;
    • Peeters, Karin;
    • Sciot, Raf;
    • Santens, Patrick;
    • De Pooter, Tim;
    • Mattheijssens, Maria;
    • Van den Broeck, Marleen;
    • Cuijt, Ivy;
    • Vennekens, Krist'l;
    • De Deyn, Peter P.
    Publication type:
    Article
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    Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion.

    Published in:
    JAMA Neurology, 2017, v. 74, n. 4, p. 445, doi. 10.1001/jamaneurol.2016.4847
    By:
    • Van Mossevelde, Sara;
    • van der Zee, Julie;
    • Gijselinck, Ilse;
    • Sleegers, Kristel;
    • De Bleecker, Jan;
    • Sieben, Anne;
    • Vandenberghe, Rik;
    • Van Langenhove, Tim;
    • Baets, Jonathan;
    • Deryck, Olivier;
    • Santens, Patrick;
    • Ivanoiu, Adrian;
    • Willems, Christiana;
    • Bäumer, Veerle;
    • Van den Broeck, Marleen;
    • Peeters, Karin;
    • Mattheijssens, Maria;
    • De Jonghe, Peter;
    • Cras, Patrick;
    • Martin, Jean-Jacques
    Publication type:
    Article
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    Neuropathology in classical and variant ataxia-telangiectasia.

    Published in:
    Neuropathology, 2012, v. 32, n. 3, p. 234, doi. 10.1111/j.1440-1789.2011.01263.x
    By:
    • Verhagen, Mijke M.M.;
    • Martin, Jean-Jacques;
    • van Deuren, Marcel;
    • Ceuterick-de Groote, Chantal;
    • Weemaes, Corry M.R.;
    • Kremer, Berry H.P.H.;
    • Taylor, Malcolm A.R.;
    • Willemsen, Michèl A.A.P.;
    • Lammens, Martin
    Publication type:
    Article
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    Mutations in dynamin 2 cause dominant centronuclear myopathy.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1207, doi. 10.1038/ng1657
    By:
    • Bitoun, Marc;
    • Maugenre, Svetlana;
    • Jeannet, Pierre-Yves;
    • Lacène, Emmanuelle;
    • Ferrer, Xavier;
    • Laforêt, Pascal;
    • Martin, Jean-Jacques;
    • Laporte, Jocelyn;
    • Lochmüller, Hanns;
    • Beggs, Alan H.;
    • Fardeau, Michel;
    • Eymard, Bruno;
    • Romero, Norma B.;
    • Guicheney, Pascale
    Publication type:
    Article
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    Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 602, doi. 10.1038/ng1354
    By:
    • Evgrafov, Oleg V.;
    • Mersiyanova, Irena;
    • Irobi, Joy;
    • Van Den Bosch, Ludo;
    • Dierick, Ines;
    • Leung, Conrad L.;
    • Schagina, Olga;
    • Verpoorten, Nathalie;
    • Van Impe, Katrien;
    • Fedotov, Valeriy;
    • Dadali, Elena;
    • Auer-Grumbach, Michaela;
    • Windpassinger, Christian;
    • Wagner, Klaus;
    • Mitrovic, Zoran;
    • Hilton-Jones, David;
    • Talbot, Kevin;
    • Martin, Jean-Jacques;
    • Vasserman, Natalia;
    • Tverskaya, Svetlana
    Publication type:
    Article
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    Increasing the dose of oral vitamin K prophylaxis and its effect on bleeding risk.

    Published in:
    2019
    By:
    • Löwensteyn, Yvette Nicole;
    • Jansen, Nicolaas Johannes Georgius;
    • van Heerde, Marc;
    • Klein, Richard Henryk;
    • Kneyber, Martin Christiaan Jacques;
    • Kuiper, Jan Willem;
    • Riedijk, Maaike Anne;
    • Verlaat, Carin Wilhelmus Maria;
    • Visser, Idse Hendrik Egbert;
    • van Waardenburg, Dirk Adriaan;
    • van Hasselt, Peter Marin
    Publication type:
    journal article
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    Mutations in the palmitoyl-protein thioesterase gene ( PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 2, p. 291, doi. 10.1093/hmg/7.2.291
    By:
    • Mitchison, Hannah M.;
    • Hofmann, Sandra L.;
    • Becerra, Carlos H. R.;
    • Munroe, Patricia B.;
    • Lake, Brian D.;
    • Crow, Yanick J.;
    • Stephenson, John B. P.;
    • Williams, Ruth E.;
    • Hofman, Irene L.;
    • Taschner, Peter E. M.;
    • Martin, Jean‐Jacques;
    • Philippart, Michel;
    • Andermann, Eva;
    • Andermann, Frederick;
    • Mole, Sara E.;
    • Gardiner, R. Mark;
    • O, Angela M.
    Publication type:
    Article
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    A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

    Published in:
    Brain: A Journal of Neurology, 2006, v. 129, n. 4, p. 841, doi. 10.1093/brain/awl029
    By:
    • Julie van der Zee;
    • Rosa Rademakers;
    • Sebastiaan Engelborghs;
    • Ilse Gijselinck;
    • Veerle Bogaerts;
    • Rik Vandenberghe;
    • Patrick Santens;
    • Jo Caekebeke;
    • Tim De Pooter;
    • Karin Peeters;
    • Ursula Lübke;
    • Marleen Van den Broeck;
    • Jean-Jacques Martin;
    • Marc Cruts;
    • Peter P. De Deyn;
    • Christine Van Broeckhoven;
    • Bart Dermaut
    Publication type:
    Article
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    Desmin-related myopathy with mallory body–like inclusions is caused by mutations of the selenoprotein N gene (Accession numbers are listed in the <APPR HREF="app1">Appendix</APPR> on the last page of this article.).

    Published in:
    Annals of Neurology, 2004, v. 55, n. 5, p. 676
    By:
    • Ana Ferreiro;
    • Chantal Ceuterick-de Groote;
    • Jared J. Marks;
    • Nathalie Goemans;
    • Gudrun Schreiber;
    • Folker Hanefeld;
    • Michel Fardeau;
    • Jean-Jacques Martin;
    • Hans H. Goebel;
    • Pascale Richard;
    • Pascale Guicheney;
    • Carsten G. Bönnemann
    Publication type:
    Article
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    Coenzyme Q- responsive Leigh's encephalopathy in two sisters.

    Published in:
    Annals of Neurology, 2002, v. 52, n. 6, p. 750, doi. 10.1002/ana.10371
    By:
    • Van Maldergem, Lionel;
    • Trijbels, Frans;
    • DiMauro, Salvatore;
    • Sindelar, Pavel J.;
    • Musumeci, Olimpia;
    • Janssen, Antoon;
    • Delberghe, Xavier;
    • Martin, Jean-Jacques;
    • Gillerot, Yves
    Publication type:
    Article
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    Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

    Published in:
    Annals of Neurology, 2002, v. 51, n. 6, p. 709, doi. 10.1002/ana.10213
    By:
    • Takashima, Hiroshi;
    • Boerkoel, Cornelius F.;
    • De Jonghe, Peter;
    • Ceuterick, Chantal;
    • Martin, Jean-Jacques;
    • Voit, Thomas;
    • Schröder, J.-Michael;
    • Williams, Anna;
    • Brophy, Peter J.;
    • Timmerman, Vincent;
    • Lupski, James R.
    Publication type:
    Article
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    Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-β concentrations.

    Published in:
    Annals of Neurology, 2000, v. 48, n. 5, p. 806, doi. 10.1002/1531-8249(200011)48:5&lt;806::AID-ANA18&gt;3.0.CO;2-F
    By:
    • Houlden, Henry;
    • Baker, Matt;
    • McGowan, Eileen;
    • Lewis, Patrick;
    • Hutton, Mike;
    • Crook, Richard;
    • Wood, Nicholas W.;
    • Kumar-Singh, Samir;
    • Geddes, Jennian;
    • Swash, Michael;
    • Scaravilli, Francesco;
    • Holton, Janice L.;
    • Lashley, Tammaryn;
    • Tomita, Taisuke;
    • Hashimoto, Tadafumi;
    • Verkkoniemi, Auli;
    • Kalimo, Hannu;
    • Somer, Mirja;
    • Paetau, Anders;
    • Martin, Jean-Jacques
    Publication type:
    Article
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