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Verslag – Rapport – Bericht – Report - GSKE - FMRE

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<strong>–</strong> Montenegro,G., Rebelo,A.P., Connell,J., Allison,R., Babalini,C., D?Aloia,M., Montieri,P., Schüle-Freyer,R., Ishiura,H.,<br />

Price,J., Strickland,A., Gonzalez,M.A., Baumbach-Reardon,L., Deconinck,T, Huang,J., Bernardi,G., Vance,J., Rogers,M.T.,<br />

Tsuji,S., De Jonghe,P., Pericak-Vance,M., Schöls,L., Orlacchio,A., Reid,E., Züchner,S.: Mutations in the ER-shaping protein<br />

reticulon2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. Journal of Clinical Investigation<br />

122(2): 538-544 (2012) Epub: 09-Jan-2012 (PMID: 22232211) (I.F.: 13.069)<br />

<strong>–</strong> Beetz,C., Pieber,T., Hertel,N., Schabhüttl,M., Fischer,C., Trajanoski,S., Graf,E., Keiner,S., Kurth,I., Wieland,T., Varga,R.-E.,<br />

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distal hereditary motor neuropathy type V. American Journal of Human Genetics 91(1): 139-145 (2012) Epub: 14-Jun-2012<br />

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Scientific Prizes:<br />

<strong>–</strong> P. De Jonghe and V. Timmerman: Medical Foundation Queen Elisabeth, <strong>GSKE</strong>-Valine De Spoelberch Prize, Brussels,<br />

Belgium, May 15, 2012<br />

<strong>–</strong> J. Baets: Koninklijke Academie voor Geneeskunde van België, Prijs voor Klinisch Wetenschappelijk Onderzoek in de<br />

Geneeskunde 2012, ‘Genotype-phenotype correlations in hereditary neuropathies: a systematic approach’, November<br />

17, 2012<br />

Awards and fellowships:<br />

<strong>–</strong> J. Baets: Peripheral Nerve Society, Arthur K. Asbury Travel Grant, 2012 PNS <strong>–</strong> INC Congress, Rotterdam, The Netherlands,<br />

June 24 <strong>–</strong> 27, 2012<br />

<strong>–</strong> J. Baets: 2012 FWO travel grant, American Society of Human Genetics meeting, San Francisco, USA.<br />

<strong>–</strong> E. Ydens: Peripheral Nerve Society, Rabobank Travel Grant, 2012 PNS-INC Congress, Rotterdam, The Netherlands, June<br />

24-27, 2012<br />

PhD theses:<br />

<strong>–</strong> A. Holmgren: “Molecular biology of small heat shock protein mutations associated with Charcot-Marie-Tooth and distal<br />

hereditary”, Promotor: Timmerman V., Irobi J., September 10 th 2012<br />

Master theses:<br />

<strong>–</strong> D. Atkinson: “Characterization of a Drosophila model for Charcot-Marie-Tooth type 2B”, Supervisor: K. Janssens,<br />

Technician: B. Asselbergh (Academic MSc Thesis, UA)<br />

Bachelor theses:<br />

<strong>–</strong> E. Lefèvere: “Genetische analyse van REEP1 in distale HMN cohorten”, Supervisor: J. Baets, Technician: T. Deconinck<br />

(Academic BSc Thesis)<br />

<strong>–</strong> W. Benoey: “Moleculair en celbiologisch onderzoek van de ziekte van Charcot-Marie-Tooth”, Supervisor: V. Timmerman,<br />

A. Holmgren, Technician: V. De Winter (Academic BSc Thesis)<br />

Chair and organizational activities<br />

<strong>–</strong> V. Timmerman and P. De Jonghe: Inherited Neuropathies Consortium (INC), Rare Disease Clinical Research Consortium<br />

(RDCRC), EAB meeting in Miami, USA, February 15-17, 2012, Member of the External Advisory Board<br />

Invited Lectures:<br />

<strong>–</strong> P. De Jonghe: “Hereditary Neuropathies, an overview”. 4. Neuromuskuläres Symposium, Neuropathien bei Kindern und<br />

Erwachsenen’, Zürich, November 22, 2012 (Plenary Lecture)<br />

<strong>–</strong> V. Timmerman: “Understanding the pathomechanisms of Charcot-Marie-Tooth neuropathies”, Thomas Wahlig Foundation,<br />

Köln, Germany, March 16, 2012 (Plenary Lecture)<br />

<strong>–</strong> V. Timmerman: “Understanding the pathomechanisms of inherited peripheral neuropathies”, European Society of Human<br />

Genetics (ESHG) meeting 2012, Nürnberg, Germany, June 24-26, 2012 (Educational Lecture)<br />

98<br />

<strong>Verslag</strong> <strong>–</strong> <strong>Rapport</strong> <strong>–</strong> <strong>Report</strong> 2012

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