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

Por Hayer, Stefanie Nicole, Deconinck, Tine, Bender, Benjamin, Smets, Katrien, Züchner, Stephan, Reich, Selina, Schöls, Ludger, Schüle, Rebecca, De Jonghe, Peter, Baets, Jonathan, Synofzik, Matthis
Publicado no Orphanet J Rare Dis (2017)

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

Por Eidhof, Ilse, Baets, Jonathan, Kamsteeg, Erik-Jan, Deconinck, Tine, van Ninhuijs, Lisa, Martin, Jean-Jacques, Schüle, Rebecca, Züchner, Stephan, De Jonghe, Peter, Schenck, Annette, van de Warrenburg, Bart P
Publicado no Brain (2018)

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

Por 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
Publicado no BMC Med Genet (2015)

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

Por Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck, Tine, DeJonghe, Peter, Mandich, Paola, Casari, Giorgio, Maltecca, Francesca
Publicado no J Med Genet (2019)

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

Por 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.
Publicado no Brain (2016)

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

Por Mademan, Inès, Harmuth, Florian, Giordano, Ilaria, Timmann, Dagmar, Magri, Stefania, Deconinck, Tine, Claaßen, 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, Consortium, EOA, Baets, Jonathan, Synofzik, Matthis
Publicado no Brain (2016)

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Por Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R., Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, Manuel B., Roda, Ricardo H., Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C.
Publicado no Neurol Genet (2016)

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

Por Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, 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, Baets, Jonathan
Publicado no Brain (2015)

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Por Synofzik, Matthis, Helbig, Katherine L., Harmuth, Florian, Deconinck, Tine, Tanpaiboon, Pranoot, Sun, Bo, Guo, Wenting, Wang, Ruiwu, Palmaer, Erika, Tang, Sha, Schaefer, G. Bradley, Gburek-Augustat, Janina, Züchner, Stephan, Krägeloh-Mann, Ingeborg, Baets, Jonathan, de Jonghe, Peter, Bauer, Peter, Chen, S. R. Wayne, Schöls, Ludger, Schüle, Rebecca
Publicado no Eur J Hum Genet (2018)

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Por Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza, Andrés Caballero, Durr, Alexandra, Martin, Jean-Jacques, Schöls, Ludger, Mhiri, Chokri, Lamari, Foudil, Züchner, Stephan, De Jonghe, Peter, Kabashi, Edor, Brice, Alexis, Stevanin, Giovanni
Publicado em 2013

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

Por Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C., Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, 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, Weckhuysen, Sarah
Publicado no Brain (2016)

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

Por Salter, Claire G., Beijer, Danique, Hardy, Holly, Barwick, Katy E.S., Bower, Matthew, Mademan, Ines, De Jonghe, Peter, Deconinck, Tine, Russell, Mark A., McEntagart, Meriel M., Chioza, Barry A., Blakely, Randy D., Chilton, John K., De Bleecker, Jan, Baets, Jonathan, Baple, Emma L., Walk, David, Crosby, Andrew H.
Publicado no Neurol Genet (2018)

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

Por Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hölker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan, Wirth, Brunhilde
Publicado no Am J Hum Genet (2020)

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

Por Stendel, Claudia , Roos, Andreas , Deconinck, Tine , Pereira, Jorge , Castagner, François , Niemann, Axel , Kirschner, Janbernd , Korinthenberg, Rudolf , Ketelsen, Uwe-Peter , Battaloglu, Esra , Parman, Yesim , Nicholson, Garth , Ouvrier, Robert , Seeger, Jürgen , Jonghe, Peter De , Weis, Joachim , Krüttgen, Alexander , Rudnik-Schöneborn, Sabine , Bergmann, Carsten , Suter, Ueli , Zerres, Klaus , Timmerman, Vincent , Relvas, João B. , Senderek, Jan 
Publicado em 2007

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

Por Johnson, Katherine, De Ridder, Willem, Töpf, Ana, Bertoli, Marta, Phillips, Lauren, De Jonghe, Peter, Baets, Jonathan, Deconinck, Tine, Rakocevic Stojanovic, Vidosava, Perić, Stojan, Durmus, Hacer, Jamal-Omidi, Shirin, Nafissi, Shahriar, Mongini, Tiziana, Łusakowska, Anna, Busby, Mark, Miller, James, Norwood, Fiona, Hudson, Judith, Barresi, Rita, Lek, Monkol, MacArthur, Daniel G, Straub, Volker
Publicado no J Neurol Neurosurg Psychiatry (2019)

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

Por 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, Huang, Jia, Bernardi, Giorgio, Vance, Jeffery M., Rogers, Mark T., Tsuji, Shoji, De Jonghe, Peter, Pericak-Vance, Margaret A., Schöls, Ludger, Orlacchio, Antonio, Reid, Evan, Züchner, Stephan
Publicado em 2012

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

Por Zimoń, Magdalena, Battaloǧlu, Esra, Parman, Yesim, Erdem, Sevim, Baets, Jonathan, De Vriendt, Els, Atkinson, Derek, Almeida-Souza, Leonardo, Deconinck, Tine, Ozes, Burcak, Goossens, Dirk, Cirak, Sebahattin, Van Damme, Philip, Shboul, Mohammad, Voit, Thomas, Van Maldergem, Lionel, Dan, Bernard, El-Khateeb, Mohammed S., Guergueltcheva, Velina, Lopez-Laso, Eduardo, Goemans, Nathalie, Masri, Amira, Züchner, Stephan, Timmerman, Vincent, Topaloǧlu, Haluk, De Jonghe, Peter, Jordanova, Albena
Publicado no Neurogenetics (2014)

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

Por 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, Hamza, Wahiba, Nanetti, Lorenzo, Mariotti, Caterina, Koenig, Michel, Schöls, Ludger, Schüle, Rebecca, de Jonghe, Peter, Anheim, Mathieu, Taroni, Franco, Bauer, Peter
Publicado no Brain (2016)

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

Por 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, Battaloglu, Esra, Madrid, Ricardo E., Kabzińska, Dagmara, Kochanski, Andrzej, Topaloglu, Haluk, Miller, Geoffrey, Jordanova, Albena, Timmerman, Vincent, De Jonghe, Peter
Publicado em 2011

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Por 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, De Bleecker, Jan L, Ortibus, Els, Debyser, Martine, Lopez de Munain, Adolfo, Pujol, Aurora, Bassi, Maria Teresa, D’Angelo, Maria Grazia, De Jonghe, Peter, Züchner, Stephan, Bauer, Peter, Schöls, Ludger, Schüle, Rebecca
Publicado no Brain (2019)