A novel AARS mutation in a family with dominant myeloneuropathy

Por Motley, William W., Griffin, Laurie B., Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S.
Publicado no Neurology (2015)

Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10

Por Verhoeven, Kristien, De Jonghe, Peter, Van de Putte, Tom, Nelis, Eva, Zwijsen, An, Verpoorten, Nathalie, De Vriendt, Els, Jacobs, An, Van Gerwen, Veerle, Francis, Annick, Ceuterick, Chantal, Huylebroeck, Danny, Timmerman, Vincent
Publicado em 2003

Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35

Por Jordanova, Albena, Thomas, Florian P., Guergueltcheva, Velina, Tournev, Ivailo, Gondim, Francisco A. A., Ishpekova, Borjana, De Vriendt, Els, Jacobs, An, Litvinenko, Ivan, Ivanova, Neviana, Buzhov, Borjan, De Jonghe, Peter, Kremensky, Ivo, Timmerman, Vincent
Publicado em 2003

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

Por Peeters, Kristien, Litvinenko, Ivan, Asselbergh, Bob, Almeida-Souza, Leonardo, Chamova, Teodora, Geuens, Thomas, Ydens, Elke, Zimoń, Magdalena, Irobi, Joy, De Vriendt, Els, De Winter, Vicky, Ooms, Tinne, Timmerman, Vincent, Tournev, Ivailo, Jordanova, Albena
Publicado em 2013

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy

Por Atkinson, Derek, Nikodinovic Glumac, Jelena, Asselbergh, Bob, Ermanoska, Biljana, Blocquel, David, Steiner, Regula, Estrada-Cuzcano, Alejandro, Peeters, Kristien, Ooms, Tinne, De Vriendt, Els, Yang, Xiang-Lei, Hornemann, Thorsten, Milic Rasic, Vedrana, Jordanova, Albena
Publicado no Neurology (2017)

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Por Verhoeven, Kristien, De Jonghe, Peter, Coen, Katrien, Verpoorten, Nathalie, Auer-Grumbach, Michaela, Kwon, Jennifer M., FitzPatrick, David, Schmedding, Eric, De Vriendt, Els, Jacobs, An, Van Gerwen, Veerle, Wagner, Klaus, Hartung, Hans-Peter, Timmerman, Vincent
Publicado em 2003

De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease

Por Motley, William W., Palaima, Paulius, Yum, Sabrina W., Gonzalez, Michael A., Tao, Feifei, Wanschitz, Julia V., Strickland, Alleene V., Löscher, Wolfgang N., De Vriendt, Els, Koppi, Stefan, Medne, Livija, Janecke, Andreas R., Jordanova, Albena, Zuchner, Stephan, Scherer, Steven S.
Publicado no Brain (2016)

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Por Rotthier, Annelies, Auer-Grumbach, Michaela, Janssens, Katrien, Baets, Jonathan, Penno, Anke, Almeida-Souza, Leonardo, Van Hoof, Kim, Jacobs, An, De Vriendt, Els, Schlotter-Weigel, Beate, Löscher, Wolfgang, Vondráček, Petr, Seeman, Pavel, De Jonghe, Peter, Van Dijck, Patrick, Jordanova, Albena, Hornemann, Thorsten, Timmerman, Vincent
Publicado em 2010

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

Por Claeys, Kristl G., Züchner, Stephan, Kennerson, Marina, Berciano, José, Garcia, Antonio, Verhoeven, Kristien, Storey, Elsdon, Merory, John R., Bienfait, Henriette M. E., Lammens, Martin, Nelis, Eva, Baets, Jonathan, De Vriendt, Els, Berneman, Zwi N., De Veuster, Ilse, Vance, Jefferey M., Nicholson, Garth, Timmerman, Vincent, De Jonghe, Peter
Publicado em 2009

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Por Zhang, Feng, Seeman, Pavel, Liu, Pengfei, Weterman, Marian A.J., Gonzaga-Jauregui, Claudia, Towne, Charles F., Batish, Sat Dev, De Vriendt, Els, De Jonghe, Peter, Rautenstrauss, Bernd, Krause, Klaus-Henning, Khajavi, Mehrdad, Posadka, Jan, Vandenberghe, Antoon, Palau, Francesc, Van Maldergem, Lionel, Baas, Frank, Timmerman, Vincent, Lupski, James R.
Publicado em 2010

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)

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