Works by Baets, Jonathan

Results: 69
    1

    Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2812, doi. 10.1093/brain/awaf111
    By:
    • Hengel, Holger;
    • Hannan, Shabab B;
    • Reich, Selina;
    • Beijer, Danique;
    • Roller, Johanna;
    • Gilsbach, Bernd K;
    • Gloeckner, Christian Johannes;
    • Greene, Daniel;
    • Timmann, Dagmar;
    • Depienne, Christel;
    • Mumford, Andrew;
    • O'Driscoll, Mary;
    • Nemeth, Andrea H;
    • Lundberg, Julie;
    • Rodan, Lance H;
    • Bruel, Ange-Line;
    • Delanne, Julian;
    • Deconinck, Tine;
    • Baets, Jonathan;
    • Gan-Or, Ziv
    Publication type:
    Article
    2
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    Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

    Published in:
    Neurogenetics, 2015, v. 16, n. 1, p. 33, doi. 10.1007/s10048-014-0422-0
    By:
    • Zimoń, Magdalena;
    • Battaloğlu, Esra;
    • Parman, Yesim;
    • Erdem, Sevim;
    • Baets, Jonathan;
    • Vriendt, Els;
    • Atkinson, Derek;
    • Almeida-Souza, Leonardo;
    • Deconinck, Tine;
    • Ozes, Burcak;
    • Goossens, Dirk;
    • Cirak, Sebahattin;
    • Damme, Philip;
    • Shboul, Mohammad;
    • Voit, Thomas;
    • Maldergem, Lionel;
    • Dan, Bernard;
    • El-Khateeb, Mohammed;
    • Guergueltcheva, Velina;
    • Lopez-Laso, Eduardo
    Publication type:
    Article
    4

    L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype.

    Published in:
    Neurogenetics, 2010, v. 11, n. 3, p. 357, doi. 10.1007/s10048-010-0237-6
    By:
    • Kabzińska, Dagmara;
    • Strugalska-Cynowska, Halina;
    • Kostera-Pruszczyk, Anna;
    • Ryniewicz, Barbara;
    • Posmyk, Renata;
    • Midro, Alina;
    • Seeman, Pavel;
    • Báranková, Lucia;
    • Zimoń, Magdalena;
    • Baets, Jonathan;
    • Timmerman, Vincent;
    • Guergueltcheva, Velina;
    • Tournev, Ivailo;
    • Sarafov, Stayko;
    • Jonghe, Peter;
    • Jordanova, Albena;
    • Hausmanowa-Petrusewicz, Irena;
    • Kochański, Andrzej
    Publication type:
    Article
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    Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases.

    Published in:
    Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae070
    By:
    • Beijer, Danique;
    • Marte, Sheila;
    • Li, Jiaxin C;
    • Ridder, Willem De;
    • Chen, Jessie Z;
    • Tadenev, Abigail L D;
    • Miers, Kathy E;
    • Deconinck, Tine;
    • Macdonell, Richard;
    • Marques, Wilson;
    • Jonghe, Peter De;
    • Pratt, Samia L;
    • Meyer-Schuman, Rebecca;
    • Züchner, Stephan;
    • Antonellis, Anthony;
    • Burgess, Robert W;
    • Baets, Jonathan
    Publication type:
    Article
    8
    9

    Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.

    Published in:
    Brain Pathology, 2024, v. 34, n. 1, p. 1, doi. 10.1111/bpa.13200
    By:
    • Bremer, Juliane;
    • Meinhardt, Axel;
    • Katona, Istvan;
    • Senderek, Jan;
    • Kämmerer‐Gassler, Elke K.;
    • Roos, Andreas;
    • Ferbert, Andreas;
    • Schröder, J. Michael;
    • Nikolin, Stefan;
    • Nolte, Kay;
    • Sellhaus, Bernd;
    • Popzhelyazkova, Klimentina;
    • Tacke, Frank;
    • Schara‐Schmidt, Ulrike;
    • Neuen‐Jacob, Eva;
    • de Groote, Chantal Ceuterick;
    • de Jonghe, Peter;
    • Timmerman, Vincent;
    • Baets, Jonathan;
    • Weis, Joachim
    Publication type:
    Article
    10

    The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.677551
    By:
    • Traschütz, Andreas;
    • Reich, Selina;
    • Adarmes, Astrid D.;
    • Anheim, Mathieu;
    • Ashrafi, Mahmoud Reza;
    • Baets, Jonathan;
    • Basak, A. Nazli;
    • Bertini, Enrico;
    • Brais, Bernard;
    • Gagnon, Cynthia;
    • Gburek-Augustat, Janina;
    • Hanagasi, Hasmet A.;
    • Heinzmann, Anna;
    • Horvath, Rita;
    • de Jonghe, Peter;
    • Kamm, Christoph;
    • Klivenyi, Peter;
    • Klopstock, Thomas;
    • Minnerop, Martina;
    • Münchau, Alexander
    Publication type:
    Article
    11

    HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.

    Published in:
    Autophagy, 2023, v. 19, n. 8, p. 2217, doi. 10.1080/15548627.2023.2179780
    By:
    • Tedesco, Barbara;
    • Vendredy, Leen;
    • Adriaenssens, Elias;
    • Cozzi, Marta;
    • Asselbergh, Bob;
    • Crippa, Valeria;
    • Cristofani, Riccardo;
    • Rusmini, Paola;
    • Ferrari, Veronica;
    • Casarotto, Elena;
    • Chierichetti, Marta;
    • Mina, Francesco;
    • Pramaggiore, Paola;
    • Galbiati, Mariarita;
    • Piccolella, Margherita;
    • Baets, Jonathan;
    • Baeke, Femke;
    • De Rycke, Riet;
    • Mouly, Vincent;
    • Laurenzi, Tommaso
    Publication type:
    Article
    12

    A de novo gain-of-function mutation in SCN11A causes loss of pain perception.

    Published in:
    Nature Genetics, 2013, v. 45, n. 11, p. 1399, doi. 10.1038/ng.2767
    By:
    • Leipold, Enrico;
    • Liebmann, Lutz;
    • Korenke, G Christoph;
    • Heinrich, Theresa;
    • Gießelmann, Sebastian;
    • Baets, Jonathan;
    • Ebbinghaus, Matthias;
    • Goral, R Oliver;
    • Stödberg, Tommy;
    • Hennings, J Christopher;
    • Bergmann, Markus;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Wetzel, Andrea;
    • Nürnberg, Peter;
    • Timmerman, Vincent;
    • De Jonghe, Peter;
    • Blum, Robert;
    • Schaible, Hans-Georg;
    • Weis, Joachim
    Publication type:
    Article
    13

    Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

    Published in:
    Nature Genetics, 2012, v. 44, n. 10, p. 1080, doi. 10.1038/ng.2406
    By:
    • Zimo?, Magdalena;
    • Baets, Jonathan;
    • Almeida-Souza, Leonardo;
    • De Vriendt, Els;
    • Nikodinovic, Jelena;
    • Parman, Yesim;
    • gcaron, Esra;
    • Matur, Zeliha;
    • Guergueltcheva, Velina;
    • Tournev, Ivailo;
    • Auer-Grumbach, Michaela;
    • De Rijk, Peter;
    • Petersen, Britt-Sabina;
    • Müller, Thomas;
    • Fransen, Erik;
    • Van Damme, Philip;
    • Löscher, Wolfgang N;
    • Bariši?, Nina;
    • Mitrovic, Zoran;
    • Previtali, Stefano C
    Publication type:
    Article
    14

    Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

    Published in:
    Nature Genetics, 2009, v. 41, n. 11, p. 1179, doi. 10.1038/ng.464
    By:
    • Kurth, Ingo;
    • Pamminger, Torsten;
    • Hennings, J. Christopher;
    • Soehendra, Désirée;
    • Huebner, Antje K.;
    • Rotthier, Annelies;
    • Baets, Jonathan;
    • Senderek, Jan;
    • Topaloglu, Haluk;
    • Farrell, Sandra A.;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • De Jonghe, Peter;
    • Gal, Andreas;
    • Kaether, Christoph;
    • Timmerman, Vincent;
    • Hübner, Christian A.
    Publication type:
    Article
    15
    16

    Cover Image, Volume 39, Issue 3.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. i, doi. 10.1002/humu.23405
    By:
    • Abbott, Jamie A.;
    • Meyer‐Schuman, Rebecca;
    • Lupo, Vincenzo;
    • Feely, Shawna;
    • Mademan, Inès;
    • Oprescu, Stephanie N.;
    • Griffin, Laurie B.;
    • Alberti, M. Antonia;
    • Casasnovas, Carlos;
    • Aharoni, Sharon;
    • Basel‐Vanagaite, Lina;
    • Züchner, Stephan;
    • De Jonghe, Peter;
    • Baets, Jonathan;
    • Shy, Michael E.;
    • Espinós, Carmen;
    • Demeler, Borries;
    • Antonellis, Anthony;
    • Francklyn, Christopher
    Publication type:
    Article
    17

    Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 415, doi. 10.1002/humu.23380
    By:
    • Abbott, Jamie A.;
    • Meyer‐Schuman, Rebecca;
    • Lupo, Vincenzo;
    • Feely, Shawna;
    • Mademan, Inès;
    • Oprescu, Stephanie N.;
    • Griffin, Laurie B.;
    • Alberti, M. Antonia;
    • Casasnovas, Carlos;
    • Aharoni, Sharon;
    • Basel‐Vanagaite, Lina;
    • Züchner, Stephan;
    • De Jonghe, Peter;
    • Baets, Jonathan;
    • Shy, Michael E.;
    • Espinós, Carmen;
    • Demeler, Borries;
    • Antonellis, Anthony;
    • Francklyn, Christopher
    Publication type:
    Article
    18

    TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

    Published in:
    Human Mutation, 2017, v. 38, n. 3, p. 297, doi. 10.1002/humu.23161
    By:
    • der Zee, Julie;
    • Gijselinck, Ilse;
    • Mossevelde, Sara;
    • Perrone, Federica;
    • Dillen, Lubina;
    • Heeman, Bavo;
    • Bäumer, Veerle;
    • Engelborghs, Sebastiaan;
    • Bleecker, Jan;
    • Baets, Jonathan;
    • Gelpi, Ellen;
    • Rojas‐García, Ricardo;
    • Clarimón, Jordi;
    • Lleó, Alberto;
    • Diehl‐Schmid, Janine;
    • Alexopoulos, Panagiotis;
    • Perneczky, Robert;
    • Synofzik, Matthis;
    • Just, Jennifer;
    • Schöls, Ludger
    Publication type:
    Article
    19
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    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

    Published in:
    Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0170-1
    By:
    • Johnson, Katherine;
    • Bertoli, Marta;
    • Phillips, Lauren;
    • Töpf, Ana;
    • Van den Bergh, Peter;
    • Vissing, John;
    • Witting, Nanna;
    • Nafissi, Shahriar;
    • Jamal-Omidi, Shirin;
    • Łusakowska, Anna;
    • Kostera-Pruszczyk, Anna;
    • Potulska-Chromik, Anna;
    • Deconinck, Nicolas;
    • Wallgren-Pettersson, Carina;
    • Strang-Karlsson, Sonja;
    • Colomer, Jaume;
    • Claeys, Kristl G.;
    • De Ridder, Willem;
    • Baets, Jonathan;
    • von der Hagen, Maja
    Publication type:
    Article
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    Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.

    Published in:
    Annals of Neurology, 2023, v. 94, n. 3, p. 470, doi. 10.1002/ana.26712
    By:
    • Traschütz, Andreas;
    • Adarmes‐Gómez, Astrid D.;
    • Anheim, Mathieu;
    • Baets, Jonathan;
    • Brais, Bernard;
    • Gagnon, Cynthia;
    • Gburek‐Augustat, Janina;
    • Doss, Sarah;
    • Hanağası, Haşmet A.;
    • Kamm, Christoph;
    • Klivenyi, Peter;
    • Klockgether, Thomas;
    • Klopstock, Thomas;
    • Minnerop, Martina;
    • Münchau, Alexander;
    • Renaud, Mathilde;
    • Santorelli, Filippo M.;
    • Schöls, Ludger;
    • Thieme, Andreas;
    • Vielhaber, Stefan
    Publication type:
    Article
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    Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.

    Published in:
    2016
    By:
    • Peeters, Kristien;
    • Palaima, Paulius;
    • Pelayo‐Negro, Ana L.;
    • García, Antonio;
    • Gallardo, Elena;
    • García‐Barredo, Rosario;
    • Mateiu, Ligia;
    • Baets, Jonathan;
    • Menten, Björn;
    • Vriendt, Els;
    • Jonghe, Peter;
    • Timmerman, Vincent;
    • Infante, Jon;
    • Berciano, José;
    • Jordanova, Albena
    Publication type:
    journal article
    29

    Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

    Published in:
    Journal of Neurology, 2025, v. 272, n. 2, p. 1, doi. 10.1007/s00415-025-12893-9
    By:
    • Iruzubieta, Pablo;
    • Verdú-Díaz, José;
    • Töpf, Ana;
    • Luce, Leonela;
    • Claeys, Kristl G.;
    • De Ridder, Willem;
    • González-Quereda, Lidia;
    • de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
    • Poza, Juan José;
    • Zulaica, Miren;
    • de Jonghe, Peter;
    • Duff, Jennifer;
    • Mroczek, Magdalena;
    • Martín-Jiménez, Paloma;
    • Hernández-Laín, Aurelio;
    • Domínguez-González, Cristina;
    • Baets, Jonathan;
    • Gallano, Pia;
    • Díaz-Manera, Jordi;
    • Straub, Volker
    Publication type:
    Article
    30

    Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

    Published in:
    Journal of Neurology, 2014, v. 261, n. 5, p. 970, doi. 10.1007/s00415-014-7289-8
    By:
    • Schabhüttl, Maria;
    • Wieland, Thomas;
    • Senderek, Jan;
    • Baets, Jonathan;
    • Timmerman, Vincent;
    • De Jonghe, Peter;
    • Reilly, Mary;
    • Stieglbauer, Karl;
    • Laich, Eva;
    • Windhager, Reinhard;
    • Erwa, Wolfgang;
    • Trajanoski, Slave;
    • Strom, Tim;
    • Auer-Grumbach, Michaela
    Publication type:
    Article
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    Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.

    Published in:
    Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-023-02675-w
    By:
    • Krumm, Laura;
    • Pozner, Tatyana;
    • Zagha, Naime;
    • Coras, Roland;
    • Arnold, Philipp;
    • Tsaktanis, Thanos;
    • Scherpelz, Kathryn;
    • Davis, Marie Y.;
    • Kaindl, Johanna;
    • Stolzer, Iris;
    • Süß, Patrick;
    • Khundadze, Mukhran;
    • Hübner, Christian A.;
    • Riemenschneider, Markus J.;
    • Baets, Jonathan;
    • Günther, Claudia;
    • Jayadev, Suman;
    • Rothhammer, Veit;
    • Krach, Florian;
    • Winkler, Jürgen
    Publication type:
    Article
    35

    C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.

    Published in:
    Acta Neuropathologica, 2023, v. 145, n. 6, p. 793, doi. 10.1007/s00401-023-02565-1
    By:
    • Ervilha Pereira, Pedro;
    • Schuermans, Nika;
    • Meylemans, Antoon;
    • LeBlanc, Pontus;
    • Versluys, Lauren;
    • Copley, Katie E.;
    • Rubien, Jack D.;
    • Altheimer, Christopher;
    • Peetermans, Myra;
    • Debackere, Elke;
    • Vanakker, Olivier;
    • Janssens, Sandra;
    • Baets, Jonathan;
    • Verhoeven, Kristof;
    • Lammens, Martin;
    • Symoens, Sofie;
    • De Paepe, Boel;
    • Barmada, Sami J.;
    • Shorter, James;
    • De Bleecker, Jan L.
    Publication type:
    Article
    36

    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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    First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.

    Published in:
    BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0200-3
    By:
    • Smets, Katrien;
    • Duarri, Anna;
    • Deconinck, Tine;
    • Ceulemans, Berten;
    • van de Warrenburg, Bart P.;
    • Züchner, Stephan;
    • Gonzalez, Michael Anthony;
    • Schüle, Rebecca;
    • Synofzik, Matthis;
    • Van der Aa, Nathalie;
    • De Jonghe, Peter;
    • Verbeek, Dineke S.;
    • Baets, Jonathan
    Publication type:
    Article
    39

    First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

    Published in:
    BMC Medical Genetics, 2015, v. 16, n. 1, p. 51, doi. 10.1186/s12881-015-0200-3
    By:
    • Smets, Katrien;
    • Duarri, Anna;
    • Deconinck, Tine;
    • Ceulemans, Berten;
    • van de Warrenburg, Bart P.;
    • Züchner, Stephan;
    • Gonzalez, Michael Anthony;
    • Schüle, Rebecca;
    • Synofzik, Matthis;
    • Van der Aa, Nathalie;
    • De Jonghe, Peter;
    • Verbeek, Dineke S.;
    • Baets, Jonathan
    Publication type:
    Article
    40

    A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A.

    Published in:
    Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 202, doi. 10.1111/jns.12621
    By:
    • Xu, Isaac R. L.;
    • Danzi, Matt C.;
    • Ruiz, Ariel;
    • Raposo, Jacquelyn;
    • De Jesus, Yeisha Arcia;
    • Reilly, Mary M.;
    • Cortese, Andrea;
    • Shy, Michael E.;
    • Scherer, Steven S.;
    • Herrmann, David N.;
    • Fridman, Vera;
    • Baets, Jonathan;
    • Saporta, Mario;
    • Seyedsadjadi, Reza;
    • Stojkovic, Tanya;
    • Claeys, Kristl G.;
    • Patel, Pooja;
    • Feely, Shawna;
    • Rebelo, Adriana P.;
    • Dohrn, Maike F.
    Publication type:
    Article
    41
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    HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.

    Published in:
    2022
    By:
    • Malcorps, Matilde;
    • Amor-Barris, Silvia;
    • Burnyte, Birute;
    • Vilimiene, Ramune;
    • Armirola-Ricaurte, Camila;
    • Grigalioniene, Kristina;
    • Ekshteyn, Alexandra;
    • Morkuniene, Ausra;
    • Vaitkevicius, Arunas;
    • De Vriendt, Els;
    • Baets, Jonathan;
    • Scherer, Steven S.;
    • Ambrozaityte, Laima;
    • Utkus, Algirdas;
    • Jordanova, Albena;
    • Peeters, Kristien
    Publication type:
    journal article
    43

    TBP Repeat Expansion Analysis in Patients Carrying Heterozygous STUB1 Variants.

    Published in:
    Movement Disorders, 2025, v. 40, n. 5, p. 980, doi. 10.1002/mds.30147
    By:
    • De Winter, Jonathan;
    • Van de Vondel, Liedewei;
    • Van Schil, Kristof;
    • Deconinck, Tine;
    • Storm, Katrien;
    • Geens, Karine;
    • Sommeling, Charlotte;
    • Crosiers, David;
    • Marechal, Emke;
    • De Ridder, Willem;
    • De Jonghe, Peter;
    • Baets, Jonathan
    Publication type:
    Article
    44

    Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.

    Published in:
    Movement Disorders, 2023, v. 38, n. 6, p. 1109, doi. 10.1002/mds.29397
    By:
    • Traschütz, Andreas;
    • Adarmes‐Gomez, Astrid D.;
    • Anheim, Mathieu;
    • Baets, Jonathan;
    • Falkenburger, Björn H.;
    • Gburek‐Augustat, Janina;
    • Doss, Sarah;
    • Kamm, Christoph;
    • Klivenyi, Peter;
    • Grobe‐Einsler, Marcus;
    • Klopstock, Thomas;
    • Minnerop, Martina;
    • Münchau, Alexander;
    • Pane, Chiara;
    • Renaud, Mathilde;
    • Santorelli, Filippo M.;
    • Schöls, Ludger;
    • Timmann, Dagmar;
    • Vielhaber, Stefan;
    • Haack, Tobias B.
    Publication type:
    Article
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