Works by Deconinck, Tine

Results: 33

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

The SCN1A variant database: a novel research and diagnostic tool.

Published in:

2009

By:

Claes, Lieve RF;
Deprez, Liesbet;
Suls, Arvid;
Baets, Jonathan;
Smets, Katrien;
Van Dyck, Tine;
Deconinck, Tine;
Jordanova, Albena;
De Jonghe, Peter

Publication type:

Other

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

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

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2218, doi. 10.1093/hmg/ddu740

By:

Hardies, Katia;
May, Patrick;
Djémié, Tania;
Tarta-Arsene, Oana;
Deconinck, Tine;
Craiu, Dana;
Helbig, Ingo;
Suls, Arvid;
Balling, Rudy;
Weckhuysen, Sarah;
De Jonghe, Peter;
Hirst, Jennifer

Publication type:

Article

Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging.

Published in:

Acta Neurologica Belgica, 2012, v. 112, n. 3, p. 287, doi. 10.1007/s13760-012-0064-7

By:

Schotsmans, Katlijn;
Cauwer, Harald;
Baets, Jonathan;
Ceyssens, Sarah;
den Hauwe, Luc;
Deconinck, Tine;
Helsen, Gregory

Publication type:

Article

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy.

Published in:

Annals of Neurology, 2012, v. 71, n. 1, p. 15, doi. 10.1002/ana.22644

By:

Weckhuysen, Sarah;
Mandelstam, Simone;
Suls, Arvid;
Audenaert, Dominique;
Deconinck, Tine;
Claes, Lieve R.F.;
Deprez, Liesbet;
Smets, Katrien;
Hristova, Dimitrina;
Yordanova, Iglika;
Jordanova, Albena;
Ceulemans, Berten;
Jansen, An;
Hasaerts, Danièle;
Roelens, Filip;
Lagae, Lieven;
Yendle, Simone;
Stanley, Thorsten;
Heron, Sarah E.;
Mulley, John C.

Publication type:

Article

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-07953-w

By:

Siekierska, Aleksandra;
Stamberger, Hannah;
Deconinck, Tine;
Oprescu, Stephanie N.;
Partoens, Michèle;
Zhang, Yifan;
Sourbron, Jo;
Adriaenssens, Elias;
Mullen, Patrick;
Wiencek, Patrick;
Hardies, Katia;
Lee, Jeong-Soo;
Giong, Hoi-Khoanh;
Distelmaier, Felix;
Elpeleg, Orly;
Helbig, Katherine L.;
Hersh, Joseph;
Isikay, Sedat;
Jordan, Elizabeth;
Karaca, Ender

Publication type:

Article

Pelizaeus-Merzbacher–Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 11, p. 1467, doi. 10.1177/0883073812463610

By:

Al-Yahyaee, Said Ali;
Al-Kindi, Mohammed;
Jonghe, Peter De;
Al-Asmi, Abdulah;
Al-Futaisi, Amna;
Vriendt, Els De;
Deconinck, Tine;
Chand, Pratap

Publication type:

Article

Epilepsy as part of the phenotype associated with ATP1A2 mutations.

Published in:

Epilepsia (Series 4), 2008, v. 49, n. 3, p. 500, doi. 10.1111/j.1528-1167.2007.01415.x

By:

Deprez, Liesbet;
Weckhuysen, Sarah;
Peeters, Katelijne;
Deconinck, Tine;
Claeys, Kristl G.;
Claes, Lieve R.F.;
Suls, Arvid;
Van Dyck, Tine;
Palmini, André;
Matthijs, Gert;
Van Paesschen, Wim;
De Jonghe, Peter

Publication type:

Article

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response.

Published in:

Life Science Alliance, 2021, v. 4, n. 11, p. 1, doi. 10.26508/lsa.202101057

By:

Beijer, Danique;
Agnew, Thomas;
Rack, Johannes Gregor Matthias;
Prokhorova, Evgeniia;
Deconinck, Tine;
Ceulemans, Berten;
Peric, Stojan;
Rasic, Vedrana Milic;
De Jonghe, Peter;
Ahel, Ivan;
Baets, Jonathan

Publication type:

Article

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

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

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 2, p. 538, doi. 10.1172/JCI60560

By:

Montenegro, Gladys;
Rebelo, Adriana P.;
Connell, James;
Allison, Rachel;
Babalini, Carla;
D'Aloia, Michela;
Montieri, Pasqua;
Schüle, Rebecca;
Ishiura, Hiroyuki;
Price, Justin;
Strickland, Alleene;
Gonzalez, Michael A.;
Baumbach-Reardon, Lisa;
Deconinck, Tine;
Jia Huang;
Bernardi, Giorgio;
Vance, Jeffery M.;
Rogers, Mark T.;
Tsuji, Shoji;
De Jonghe, Peter

Publication type:

Article

Diagnostic implications of genetic copy number variation in epilepsy plus.

Published in:

Epilepsia (Series 4), 2019, v. 60, n. 4, p. 689, doi. 10.1111/epi.14683

By:

Coppola, Antonietta;
Cellini, Elena;
Stamberger, Hannah;
Saarentaus, Elmo;
Cetica, Valentina;
Lal, Dennis;
Djémié, Tania;
Bartnik‐Glaska, Magdalena;
Ceulemans, Berten;
Helen Cross, J.;
Deconinck, Tine;
Masi, Salvatore De;
Dorn, Thomas;
Guerrini, Renzo;
Hoffman‐Zacharska, Dorotha;
Kooy, Frank;
Lagae, Lieven;
Lench, Nicholas;
Lemke, Johannes R.;
Lucenteforte, Ersilia

Publication type:

Article

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

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Published in:

Movement Disorders, 2022, v. 37, n. 6, p. 1175, doi. 10.1002/mds.28959

By:

Van de Vondel, Liedewei;
De Winter, Jonathan;
Beijer, Danique;
Coarelli, Giulia;
Wayand, Melanie;
Palvadeau, Robin;
Pauly, Martje G.;
Klein, Katrin;
Rautenberg, Maren;
Guillot‐Noël, Léna;
Deconinck, Tine;
Vural, Atay;
Ertan, Sibel;
Dogu, Okan;
Uysal, Hilmi;
Brankovic, Vesna;
Herzog, Rebecca;
Brice, Alexis;
Durr, Alexandra;
Klebe, Stephan

Publication type:

Article

Vitamin D<sub>3</sub> deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53057-5

By:

Ehnert, Sabrina;
Hauser, Stefan;
Hengel, Holger;
Höflinger, Philip;
Schüle, Rebecca;
Lindig, Tobias;
Baets, Jonathan;
Deconinck, Tine;
de Jonghe, Peter;
Histing, Tina;
Nüssler, Andreas K.;
Schöls, Ludger;
Rattay, Tim W.

Publication type:

Article

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Published in:

2017

By:

Hayer, Stefanie Nicole;
Deconinck, Tine;
Bender, Benjamin;
Smets, Katrien;
Züchner, Stephan;
Reich, Selina;
Schöls, Ludger;
Schüle, Rebecca;
De Jonghe, Peter;
Baets, Jonathan;
Synofzik, Matthis

Publication type:

journal article

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.

Published in:

2019

By:

Beijer, Danique;
Deconinck, Tine;
Bleecker, Jan L De;
Dotti, Maria Teresa;
Malandrini, Alessandro;
Urtizberea, J Andoni;
Zulaica, Miren;
Munain, Adolfo López de;
Asselbergh, Bob;
Jonghe, Peter De;
Baets, Jonathan;
De Bleecker, Jan L;
López de Munain, Adolfo;
De Jonghe, Peter

Publication type:

journal article

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Published in:

2019

By:

Rattay, Tim W;
Lindig, Tobias;
Baets, Jonathan;
Smets, Katrien;
Deconinck, Tine;
Söhn, Anne S;
Hörtnagel, Konstanze;
Eckstein, Kathrin N;
Wiethoff, Sarah;
Reichbauer, Jennifer;
Döbler-Neumann, Marion;
Krägeloh-Mann, Ingeborg;
Auer-Grumbach, Michaela;
Plecko, Barbara;
Münchau, Alexander;
Wilken, Bernd;
Janauschek, Marc;
Giese, Anne-Katrin;
Bleecker, Jan L De;
Ortibus, Els

Publication type:

journal article

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Published in:

2018

By:

Eidhof, Ilse;
Baets, Jonathan;
Kamsteeg, Erik-Jan;
Deconinck, Tine;
Ninhuijs, Lisa van;
Martin, Jean-Jacques;
Schüle, Rebecca;
Züchner, Stephan;
Jonghe, Peter De;
Schenck, Annette;
van Ninhuijs, Lisa;
De Jonghe, Peter;
van de Warrenburg, Bart P

Publication type:

journal article

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Published in:

2017

By:

Schöls, Ludger;
Rattay, Tim W.;
Martus, Peter;
Meisner, Christoph;
Baets, Jonathan;
Fischer, Imma;
Jägle, Christine;
Fraidakis, Matthew J.;
Martinuzzi, Andrea;
Saute, Jonas Alex;
Scarlato, Marina;
Antenora, Antonella;
Stendel, Claudia;
Höflinger, Philip;
Lourenco, Charles Marques;
Abreu, Lisa;
Smets, Katrien;
Paucar, Martin;
Deconinck, Tine;
Bis, Dana M.

Publication type:

journal article

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Published in:

2016

By:

Hardies, Katia;
Yiying Cai;
Jardel, Claude;
Jansen, Anna C.;
Mian Cao;
May, Patrick;
Djémié, Tania;
Le Camus, Caroline Hachon;
Keymolen, Kathelijn;
Deconinck, Tine;
Bhambhani, Vikas;
Long, Catherine;
Sajan, Samin A.;
Helbig, Katherine L.;
Suls, Arvid;
Balling, Rudi;
Helbig, Ingo;
De Jonghe, Peter;
Depienne, Christel;
De Camilli, Pietro

Publication type:

journal article

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

Published in:

2016

By:

Mademan, Inès;
Harmuth, Florian;
Giordano, Ilaria;
Timmann, Dagmar;
Magri, Stefania;
Deconinck, Tine;
Claaβen, Jens;
Jokisch, Daniel;
Genc, Gencer;
Di Bella, Daniela;
Romito, Silvia;
Schüle, Rebecca;
Züchner, Stephan;
Taroni, Franco;
Klockgether, Thomas;
Schöls, Ludger;
De Jonghe, Peter;
Bauer, Peter;
Baets, Jonathan;
Synofzik, Matthis

Publication type:

Letter

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Published in:

2016

By:

Denora, Paola S.;
Smets, Katrien;
Zolfanelli, Federica;
Ceuterick-de Groote, Chantal;
Casali, Carlo;
Deconinck, Tine;
Sieben, Anne;
Gonzales, Michael;
Zuchner, Stephan;
Darios, Frédéric;
Peeters, Dirk;
Brice, Alexis;
Malandrini, Alessandro;
De Jonghe, Peter;
Santorelli, Filippo M.;
Stevanin, Giovanni;
Martin, Jean-Jacques;
El Hachimi, Khalid H.

Publication type:

journal article

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

Published in:

2016

By:

Synofzik, Matthis;
Smets, Katrien;
Mallaret, Martial;
Di Bella, Daniela;
Gallenmüller, Constanze;
Baets, Jonathan;
Schulze, Martin;
Magri, Stefania;
Sarto, Elisa;
Mustafa, Mona;
Deconinck, Tine;
Haack, Tobias;
Züchner, Stephan;
Gonzalez, Michael;
Timmann, Dagmar;
Stendel, Claudia;
Klopstock, Thomas;
Durr, Alexandra;
Tranchant, Christine;
Sturm, Marc

Publication type:

journal article

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

Published in:

2015

By:

Hardies, Katia;
de Kovel, Carolien G. F.;
Weckhuysen, Sarah;
Asselbergh, Bob;
Geuens, Thomas;
Deconinck, Tine;
Azmi, Abdelkrim;
May, Patrick;
Brilstra, Eva;
Becker, Felicitas;
Barisic, Nina;
Craiu, Dana;
Braun, Kees P. J.;
Lal, Dennis;
Thiele, Holger;
Schubert, Julian;
Weber, Yvonne;
van 't Slot, Ruben;
Nürnberg, Peter;
Balling, Rudi

Publication type:

journal article

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Published in:

2015

By:

Brozkova, Dana Safka;
Deconinck, Tine;
Griffin, Laurie Beth;
Ferbert, Andreas;
Haberlova, Jana;
Mazanec, Radim;
Lassuthova, Petra;
Roth, Christian;
Pilunthanakul, Thanita;
Rautenstrauss, Bernd;
Janecke, Andreas R.;
Zavadakova, Petra;
Chrast, Roman;
Rivolta, Carlo;
Zuchner, Stephan;
Antonellis, Anthony;
Beg, Asim A.;
De Jonghe, Peter;
Senderek, Jan;
Seeman, Pavel

Publication type:

journal article

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 3, p. 683, doi. 10.1093/brain/awt357

By:

Kornak, Uwe;
Mademan, Inès;
Schinke, Marte;
Voigt, Martin;
Krawitz, Peter;
Hecht, Jochen;
Barvencik, Florian;
Schinke, Thorsten;
Gießelmann, Sebastian;
Beil, F. Timo;
Pou-Serradell, Adolf;
Vílchez, Juan J.;
Beetz, Christian;
Deconinck, Tine;
Timmerman, Vincent;
Kaether, Christoph;
De Jonghe, Peter;
Hübner, Christian A.;
Gal, Andreas;
Amling, Michael

Publication type:

Article

Genetic spectrum of hereditary neuropathies with onset in the first year of life.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. 2664, doi. 10.1093/brain/awr184

By:

Baets, Jonathan;
Deconinck, Tine;
De Vriendt, Els;
Zimoń, Magdalena;
Yperzeele, Laetitia;
Van Hoorenbeeck, Kim;
Peeters, Kristien;
Spiegel, Ronen;
Parman, Yesim;
Ceulemans, Berten;
Van Bogaert, Patrick;
Pou-Serradell, Adolf;
Bernert, Günther;
Dinopoulos, Argirios;
Auer-Grumbach, Michaela;
Sallinen, Satu-Leena;
Fabrizi, Gian Maria;
Pauly, Fernand;
Van den Bergh, Peter;
Bilir, Birdal

Publication type:

Article

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1217

By:

Ines Dierick;
Jonathan Baets;
Joy Irobi;
An Jacobs;
Els De Vriendt;
Tine Deconinck;
Luciano Merlini;
Peter Van den Bergh;
Vedrana Milic Rasic;
Wim Robberecht;
Dirk Fischer;
Raul Juntas Morales;
Zoran Mitrovic;
Pavel Seeman;
Radim Mazanec;
Andrzej Kochanski;
Albena Jordanova;
Michaela Auer-Grumbach;
A. T. J. M. Helderman-van den Enden;
John H. J. Wokke

Publication type:

Article

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. 1078, doi. 10.1093/brain/awn026

By:

Christian Beetz;
Rebecca Schüle;
Tine Deconinck;
Khanh-Nhat Tran-Viet;
Hui Zhu;
Berry P.H. Kremer;
Suzanna G.M. Frints;
Wendy A.G. van Zelst-Stams;
Paula Byrne;
Susanne Otto;
Anders O.H. Nygren;
Jonathan Baets;
Katrien Smets;
Berten Ceulemans;
Bernard Dan;
Narasimhan Nagan;
Jan Kassubek;
Sven Klimpe;
Thomas Klopstock;
Henning Stolze

Publication type:

Article