Works by Jacques, Martin


Results: 138
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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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    Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 3, p. 365, doi. 10.1001/2013.jamaneurol.181
    By:
    • Van Langenhove, Tim;
    • van der Zee, Julie;
    • Gijselinck, Ilse;
    • Engelborghs, Sebastiaan;
    • Vandenberghe, Rik;
    • Vandenbulcke, Mathieu;
    • De Bleecker, Jan;
    • Sieben, Anne;
    • Versijpt, Jan;
    • Ivanoiu, Adrian;
    • Deryck, Olivier;
    • Willems, Christiana;
    • Dillen, Lubina;
    • Philtjens, Stéphanie;
    • Maes, Githa;
    • Bäumer, Veerle;
    • Van Den Broeck, Marleen;
    • Mattheijssens, Maria;
    • Peeters, Karin;
    • Martin, Jean-Jacques
    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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    Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.

    Published in:
    2017
    By:
    • Schnitzler, Lukas J.;
    • Schreckenbach, Tobias;
    • Nadaj-Pakleza, Aleksandra;
    • Stenzel, Werner;
    • Rushing, Elisabeth J.;
    • Van Damme, Philip;
    • Ferbert, Andreas;
    • Petri, Susanne;
    • Hartmann, Christian;
    • Bornemann, Antje;
    • Meisel, Andreas;
    • Petersen, Jens A.;
    • Tousseyn, Thomas;
    • Thal, Dietmar R.;
    • Reimann, Jens;
    • De Jonghe, Peter;
    • Martin, Jean-Jacques;
    • Van den Bergh, Peter Y.;
    • Schulz, Jörg B.;
    • Weis, Joachim
    Publication type:
    journal article
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    Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 6, p. 1001, doi. 10.1007/s00401-020-02145-7
    By:
    • Martin, Shaun;
    • Smolders, Stefanie;
    • Van den Haute, Chris;
    • Heeman, Bavo;
    • van Veen, Sarah;
    • Crosiers, David;
    • Beletchi, Igor;
    • Verstraeten, Aline;
    • Gossye, Helena;
    • Gelders, Géraldine;
    • Pals, Philippe;
    • Hamouda, Norin Nabil;
    • Engelborghs, Sebastiaan;
    • Martin, Jean-Jacques;
    • Eggermont, Jan;
    • De Deyn, Peter Paul;
    • Cras, Patrick;
    • Baekelandt, Veerle;
    • Vangheluwe, Peter;
    • Van Broeckhoven, Christine
    Publication type:
    Article
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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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    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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    Ludo van Bogaert (1897–1989).

    Published in:
    Journal of Neurology, 2000, v. 247, n. 10, p. 814, doi. 10.1007/s004150070103
    By:
    • Martin, Jean-Jacques
    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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    Regnerischere Südseeinseln wegen Ozonloch.

    Published in:
    Physik in Unserer Zeit, 2017, v. 48, n. 5, p. 215, doi. 10.1002/piuz.201770505
    By:
    • Brönnimann, Stefan;
    • Coper, Martín Jacques;
    • Fischer, Andreas
    Publication type:
    Article
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