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Staff at EMBL

CP-60018776

Magdalena Zimon

Postdoctoral Fellow (EIPOD)
Pepperkok Team Spitz Group

EMBL Heidelberg, Meyerhofstraße 1, 69117 Heidelberg, Germany

Tel: +49 6221 387-8232
E-mail: send a mail

Publications

Total: 10 publication(s)

2014

Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, Van Maldergem L, Dan B, El-Khateeb MS, Guergueltcheva V, Lopez-Laso E, Goemans N, Masri A, Züchner S, Timmerman V, Topaloğlu H, De Jonghe P, Jordanova A. (2014)
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Neurogenetics doi:10.1007/s10048-014-0422-0
Europe PMC | doi

Caetano JS, Costa C, Baets J, Zimon Phd M, Venâncio Phd M, Saraiva Phd J, Negrão L, Fineza I. (2014)
Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.
Pediatr. Neurol. 50(1):104-107. doi:10.1016/j.pediatrneurol.2013.08.028
Europe PMC | doi


2013

Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. (2013)
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
Hum. Mol. Genet. 22(15):2975-2983. doi:10.1093/hmg/ddt149
Europe PMC | doi

Peeters K, Litvinenko I, Asselbergh B, Almeida-Souza L, Chamova T, Geuens T, Ydens E, Zimoń M, Irobi J, De Vriendt E, De Winter V, Ooms T, Timmerman V, Tournev I, Jordanova A. (2013)
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
Am. J. Hum. Genet. 92(6):955-964. doi:10.1016/j.ajhg.2013.04.013
Europe PMC | doi


2012

Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A. (2012)
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Nat. Genet. 44(10):1080-1083. doi:10.1038/ng.2406
Europe PMC | doi


2011

Baets J, Deconinck T, De Vriendt E, Zimoń M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzińska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, Timmerman V, De Jonghe P. (2011)
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Brain 134(Pt 9):2664-2676. doi:10.1093/brain/awr184
Europe PMC | doi

Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A. (2011)
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
Neurology 77(6):540-548. doi:10.1212/wnl.0b013e318228fc70
Europe PMC | doi

Berciano J, Baets J, Gallardo E, Zimoń M, García A, López-Laso E, Combarros O, Infante J, Timmerman V, Jordanova A, De Jonghe P. (2011)
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
J. Neurol. 258(8):1413-1421. doi:10.1007/s00415-011-5947-7
Europe PMC | doi


2010

Kabzińska D, Strugalska-Cynowska H, Kostera-Pruszczyk A, Ryniewicz B, Posmyk R, Midro A, Seeman P, Báranková L, Zimoń M, Baets J, Timmerman V, Guergueltcheva V, Tournev I, Sarafov S, De Jonghe P, Jordanova A, Hausmanowa-Petrusewicz I, Kochański A. (2010)
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Neurogenetics 11(3):357-366. doi:10.1007/s10048-010-0237-6
Europe PMC | doi

Zimoń M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD. (2010)
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Brain 133(Pt 6):1798-1809. doi:10.1093/brain/awq109
Europe PMC | doi