Works matching AU Jacques, Martin


Results: 138
    1
    2

    Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

    Published in:
    Human Mutation, 2008, v. 29, n. 5, p. 670, doi. 10.1002/humu.20696
    By:
    • Monnier, Nicole;
    • Marty, Isabelle;
    • Faure, Julien;
    • Castiglioni, Claudia;
    • Desnuelle, Claude;
    • Sacconi, Sabrina;
    • Estournet, Brigitte;
    • Ferreiro, Ana;
    • Romero, Norma;
    • Laquerriere, Annie;
    • Lazaro, Leila;
    • Martin, Jean-Jacques;
    • Morava, Eva;
    • Rossi, Annick;
    • Van der Kooi, Anneke;
    • de Visser, Marianne;
    • Verschuuren, Corien;
    • Lunardi, Joël
    Publication type:
    Article
    3

    Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

    Published in:
    Human Mutation, 2007, v. 28, n. 4, p. 416, doi. 10.1002/humu.9484
    By:
    • van der Zee, Julie;
    • Le Ber, Isabelle;
    • Maurer-Stroh, Sebastian;
    • Engelborghs, Sebastiaan;
    • Gijselinck, Ilse;
    • Camuzat, Agnès;
    • Brouwers, Nathalie;
    • Vandenberghe, Rik;
    • Sleegers, Kristel;
    • Hannequin, Didier;
    • Dermaut, Bart;
    • Schymkowitz, Joost;
    • Campion, Dominique;
    • Santens, Patrick;
    • Martin, Jean-Jacques;
    • Lacomblez, Lucette;
    • De Pooter, Tim;
    • Peeters, Karin;
    • Mattheijssens, Maria;
    • Vercelletto, Martine
    Publication type:
    Article
    4
    5
    6

    POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

    Published in:
    Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 4, doi. 10.1002/acn3.361
    By:
    • Van Maldergem, Lionel;
    • Besse, Arnaud;
    • De Paepe, Boel;
    • Blakely, Emma L.;
    • Appadurai, Vivek;
    • Humble, Margaret M.;
    • Piard, Juliette;
    • Craig, Kate;
    • He, Langping;
    • Hella, Pierre;
    • Debray, François‐Guillaume;
    • Martin, Jean‐Jacques;
    • Gaussen, Marion;
    • Laloux, Patrice;
    • Stevanin, Giovanni;
    • Van Coster, Rudy;
    • Taylor, Robert W.;
    • Copeland, William C.;
    • Mormont, Eric;
    • Bonnen, Penelope E.
    Publication type:
    Article
    7

    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
    8

    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
    9

    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
    10
    11
    12
    13
    14
    15
    16

    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
    17

    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
    18
    19
    20

    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
    21
    22
    23

    Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis.

    Published in:
    Acta Neuropathologica, 2014, v. 127, n. 6, p. 845, doi. 10.1007/s00401-014-1262-6
    By:
    • Götzl, Julia;
    • Mori, Kohji;
    • Damme, Markus;
    • Fellerer, Katrin;
    • Tahirovic, Sabina;
    • Kleinberger, Gernot;
    • Janssens, Jonathan;
    • Zee, Julie;
    • Lang, Christina;
    • Kremmer, Elisabeth;
    • Martin, Jean-Jacques;
    • Engelborghs, Sebastiaan;
    • Kretzschmar, Hans;
    • Arzberger, Thomas;
    • Broeckhoven, Christine;
    • Haass, Christian;
    • Capell, Anja
    Publication type:
    Article
    24

    The genetics and neuropathology of frontotemporal lobar degeneration.

    Published in:
    Acta Neuropathologica, 2012, v. 124, n. 3, p. 353, doi. 10.1007/s00401-012-1029-x
    By:
    • Sieben, Anne;
    • Van Langenhove, Tim;
    • Engelborghs, Sebastiaan;
    • Martin, Jean-Jacques;
    • Boon, Paul;
    • Cras, Patrick;
    • De Deyn, Peter-Paul;
    • Santens, Patrick;
    • Van Broeckhoven, Christine;
    • Cruts, Marc
    Publication type:
    Article
    25
    26
    27
    28
    29
    30
    31

    Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.

    Published in:
    Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01121-w
    By:
    • Smolders, Stefanie;
    • Philtjens, Stéphanie;
    • Crosiers, David;
    • Sieben, Anne;
    • Hens, Elisabeth;
    • Heeman, Bavo;
    • Van Mossevelde, Sara;
    • Pals, Philippe;
    • Asselbergh, Bob;
    • Dos Santos Dias, Roberto;
    • Vermeiren, Yannick;
    • Vandenberghe, Rik;
    • Engelborghs, Sebastiaan;
    • De Deyn, Peter Paul;
    • Martin, Jean-Jacques;
    • Cras, Patrick;
    • Annaert, Wim;
    • Van Broeckhoven, Christine;
    • BELNEU consortium;
    • van der Linden, Chris
    Publication type:
    Article
    32
    33
    34
    35
    36
    37
    38

    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
    39
    40
    41
    42
    43
    44
    45

    Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.

    Published in:
    2016
    By:
    • Van Mossevelde, Sara;
    • van der Zee, Julie;
    • Gijselinck, Ilse;
    • Engelborghs, Sebastiaan;
    • Sieben, Anne;
    • Van Langenhove, Tim;
    • De Bleecker, Jan;
    • Baets, Jonathan;
    • Vandenbulcke, Mathieu;
    • Van Laere, Koen;
    • Ceyssens, Sarah;
    • Van den Broeck, Marleen;
    • Peeters, Karin;
    • Mattheijssens, Maria;
    • Cras, Patrick;
    • Vandenberghe, Rik;
    • De Jonghe, Peter;
    • Martin, Jean-Jacques;
    • De Deyn, Peter P.;
    • Cruts, Marc
    Publication type:
    journal article
    46
    47

    A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 9, p. 2277, doi. 10.1093/brain/awm167
    By:
    • Veerle Bogaerts;
    • Sebastiaan Engelborghs;
    • Samir Kumar-Singh;
    • Dirk Goossens;
    • Barbara Pickut;
    • Julie van der Zee;
    • Kristel Sleegers;
    • Karin Peeters;
    • Jean-Jacques Martin;
    • Jurgen Del-Favero;
    • Thomas Gasser;
    • Dennis W. Dickson;
    • Zbigniew K. Wszolek;
    • Peter P. De Deyn;
    • Jessie Theuns;
    • Christine Van Broeckhoven
    Publication type:
    Article
    48
    49

    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
    50

    A family‐based genetic study identifies mutations in TLR9 impairing receptor activation: A role for innate immunity in AD pathogenesis: Developing topics.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.047212
    By:
    • Cacace, Rita;
    • Hoogmartens, Julie;
    • Hens, Elisabeth;
    • Buist, Arjan;
    • Cras, Patrick;
    • Sieben, Anne;
    • Vandenberghe, Rik;
    • Engelborghs, Sebastiaan;
    • De Deyn, Peter Paul;
    • Martin, Jean‐Jacques;
    • Moechars, Diederik;
    • Van Broeckhoven, Christine
    Publication type:
    Article