Verslag – Rapport – Bericht – Report - GSKE - FMRE

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whole genome sequencing. European Journal of Human Genetics - Supplement ESHG P12.163: (2012) (I.F.: 4.4) – van der Zee,J., Gijselinck,I., Dillen,L., Van Langenhove,T., Sieben,A., Martin,J.J., Cruts,M., Van Broeckhoven,C., European EOD Consortium: A Pan-European study of the C9orf72 expansion associated with FTLD and ALS. International Conference on Frontotemporal dementia, Manchester, UK, September 5-7 (2012) Dementia and Geriatric Cognitive Disorders 34(S1): 78 – van der Zee,J., Gijselinck,I., Dillen,L., Van Langenhove,T., Sieben,A., Martin,J-J., Cruts,M., Van Broeckhoven,C., EOD Consortium,: Geographical frequency of the FTLD-ALS causing C9Orf72 repeat expansion mutation in an extended cohort ascertained within the European Consortium on early-onset dementia. Alzheimer’s & Dementia - Supplement AAIC : (2012) (I.F.: 6.373) – Van Langenhove,T., van der Zee,J., Gijselinck,I., Engelborghs,S., Vandenberghe,R., Vandenbulcke,M., De Bleecker,J., Sieben,A., Ivanoiu,A., Deryck,O., Willems,C., Martin,J-J., Michotte,A., Santens,P., De Jonghe,P., Cras,P., De Deyn,P., Cruts,M., Van Broeckhoven,C.: Distinct clinical characteristics of C9orf72 expansion carriers compared to GRN, MAPT and non-mutation carries in a Flanders-Belgian FTLD cohort. International Conference on Frontotemporal dementia, Manchester, UK, September 5-7 (2012) Dementia and Geriatric Cognitive Disorders 34(S1): 226 – Van Langenhove,T., van der Zee,J., Gijselinck,I., Engelborghs,S., Vandenberghe,R., Sieben,A., Santens,P., De Jonghe,P., Cras,P., De Deyn,P., Cruts,M., Van Broeckhoven,C., The Flanders Belgian Neurology network,: The clinical presentation of C9Orf72-associated frontotemporal lobar degeneration in an extended Flanders-Belgian cohort. Alzheimer’s & Dementia - Supplement AAIC: (2012) (I.F.: 6.373) Administrative Report Honors, prizes & awards Prizes – Cruts M.: Medical Foundation Queen Elisabeth (GSKE), Solvay Prize, May 15, 2012 Travel awards – Gijselinck I.: Alzheimer’s Association International Conference (AAIC) 2012 Travel Fellowship Committee, AAIC Travel Award for participation to an international meeting: Alzheimers’s Association International Conference 2012, Vancouver, British Columbia, July 14-19, 2012 – Gijselinck I.: Research Foundation-Flanders (FWO), FWO Travel Award for participation to an international meeting: Alzheimer’s Association International Conference 2012, Vancouver, British Columbia, July 14-19, 2012 – van der Zee J.: Alzheimer’s Association International Conference (AAIC) 2012 Travel Fellowship Committee, AAIC Travel Award A for participation to an international meeting: Alzheimer’s Association International Conference 2012, Vancouver, British Columbia, July 14-19, 2012 Presentations Invited lectures International – Cruts M.: ‘Weeding Mendel’s Garden: Can We Hoe Dubious Genetic Associations?’, Alzforum Webinar Panel Discussion, July 31, 2012 National – Janssens J.: “Visualising angiogenesis in the context of frontotemporal lobar degeneration” Bio Imaging Lab core day, University of Antwerp, Antwerp, Belgium, October 1, 2012 – van der Zee J.: “Recent advances in Genetics of dementia”, Interuniversity neurology course, Université Libre de Bruxelles - Hôpital Erasme, Brussels, Belgium, June 16, 2012 Oral presentations – slide sessions International – Philtjens S.: “Identification of novel causal genes for frontotemporal lobar degeneration using whole genome sequencing”, 8th International Conference on Frontotemporal Dementias, Manchester, UK, September 5-7, 2012 38 Verslag – Rapport – Report 2012
– van der Zee J.: “A European consortium for high-profile translational research on early-onset dementia – a prevalence study of the FTLD-ALS causing C9orf72 repeat expansion mutation in an extended European cohort”, American Academy of Neurology 64th Annual Meeting 2012, New Orleans, LA, USA, April 21-28, 2012 – van der Zee J.: “Geographical frequency of the FTLD-ALS causing C9Orf72 repeat expansion mutation in an extended cohort ascertained within the European Consortium on early-onset dementia”, Alzheimer’s Association International Conference 2012, Vancouver, British Columbia, July 14-19, 2012 – Van Langenhove T.: “The clinical presentation of C9Orf72-associated frontotemporal lobar degeneration in an extended Flanders-Belgian cohort”, Alzheimer’s Association International Conference 2012, Vancouver, British Columbia, July 14- 19, 2012 National – Philtjens S.: “Identification of novel genes for frontotemporal lobar degeneration using whole-genome sequencing”, Capita Selecta in Complex Disease Analysis (CSCDA) 2012, Liège, Belgium, May 31 – June 1, 2012 – Philtjens S.: “In search of genetic defects in unrelated frontotemporal lobar degeneration patients using whole genome sequencing”, VIB Seminar 2012, Blankenberge, Belgium, April 18-20, 2012 Poster presentations International – Gijselinck I.: “Genomic characterization of the C9Orf72 promoter repeat in FTLD and ALS patients”, Alzheimer’s Association International Conference 212, Vancouver, British-Columbia, July 14-19, 2012 – Gijselinck I.: “Genomic characterization of the C9orf72 repeat region associated with FTLD and ALS”, 8th International Conference on Frontotemporal Dementias, Manchester, UK, September 5-7, 2012 – Janssens J.: “Overexpression of human p.M337V TDP-43 in mice worsens disease features of ALS/FTLD compared to wild-type mice”, 8th International Conference on Frontotemporal Dementias, Manchester, UK, September 5-7, 2012 – Janssens J.: “Overexpression of human p.M337V TDP-43 in mice worsens disease features of ALS/FTLD compared to wild-type mice”, 12th Eibsee Meeting on Cellular Mechanisms of Neurodegeneration, Grainau, Germany, November 21- 24, 2012 – Kleinberger G.: “Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin”, 8th International Conference on Frontotemporal Dementias, Manchester, UK, September 5-7, 2012 – Philtjens S.: “Identification of novel causal genes for frontotemporal lobar degeneration using whole genome sequencing”, 8th International Conference on Frontotemporal Dementias, Manchester, UK, September 5-7, 2012 – Philtjens S.: “In search of genetic defects in unrelated frontotemporal lobar degeneration patients using whole genome sequencing”, European Society of Human Genetics (ESHG2012), Nürnberg, Germany, June 23-26, 2012 – van der Zee J.: “A Pan-European study of the C9orf72 expansion associated with FTLD and ALS”, 8th International Conference on Frontotemporal Dementias, Manchester, UK, September 5-7, 2012 – van der Zee J.: “A Pan-European study of the pathological C9orf72 hexanucleotide (G C ) expansion associated with 4 2 frontotemporal lobar degeneration and amyotrophic lateral sclerosis”, American Society of Human Genetics (ASHG) Annual Meeting, San Francisco, November 6-10, 2012 – Van Langenhove T.: “Distinct clinical characteristics of C9orf72 expansion carriers compared to GRN, MAPT and nonmutation carriers in a Flanders-Belgian cohort”, 8th International Conference on Frontotemporal Dementias, Manchester, UK, September 5-7, 2012 National – Gijselinck I.: “Genomic characterization of the C9orf72 promoter repeat in FTLD and ALS patients”, VIB Seminar 2012, Blankenberge, Belgium, April 18-20, 2012 – Janssens J.: “Overexpression of mutant human TDP-43 in mice worsens disease features of ALS/FTLD compared to wild-type human TDP-43 overexpression mice”, VIB Seminar 2012, Blankenberge, Belgium, April 18-20, 2012 – Van Langenhove T.: “Phenotypic presentation of C9orf72-associated frontotemporal lobar degeneration”, VIB Seminar 2012, Blankenberge, Belgium, April 18-20, 2012 Societal activities – J. van der Zee: Lay public presentation: “Dementie en het genetisch onderzoek”, Davidsfonds, Ieper, Belgium, March 27, 2012 – J. van der Zee: Lay public presentation: “De Ziekte van Alzheimer, nieuwe wetenschappelijke inzichten rond dementie”, Beurs 55+, Deurne, Belgium, May 30, 2012 – J. van der Zee: Lay public presentation: “Wetenschappelijk onderzoek naar Dementie”, Openbare ouderenraad, Deurne, Belgium, October 15, 2012 Verslag – Rapport – Report 2012 39
Page 1 and 2: Verslag - Rapport - Bericht - Repor
Page 3 and 4: Fondation Médicale Reine Elisabeth
Page 5 and 6: Onderzoeksprogramma’s gefinancier
Page 7 and 8: Progress reports of the university
Page 9 and 10: Progress report of the research gro
Page 11 and 12: ß-actin in neural crest cell migra
Page 13 and 14: In addition whole mount in situ hyb
Page 15 and 16: In summary we show an essential rol
Page 19 and 20: mRNA metabolism at synapses and spi
Page 21 and 22: eIF4E upon DHPG stimulation, but Ra
Page 23 and 24: REFERENCES - Bagni, C., Tassone, F.
Page 27 and 28: Role of DMRT transcription factors
Page 29 and 30: References - Borello U, Pierani A (
Page 33 and 34: Molecular Genetics and Functional G
Page 35 and 36: Granulin (GRN) Loss-of-function mut
Page 37: Publications Acknowledging G.S.K.E.
Page 43 and 44: Developmental origin of multiple de
Page 45 and 46: additional experiments, which meanw
Page 47 and 48: using Sip1-deficient, Cre-activated
Page 49 and 50: Hirschsprung disease-mental retarda
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Page 55 and 56: Characterization of Human Sleep/Wak
Page 57 and 58: delivery. These detected sounds wer
Page 61 and 62: Unravelling the roles of lysine ace
Page 63 and 64: candidate-based approach with a pro
Page 65 and 66: Bibliography - Akella, J.S., Wloga,
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Page 71 and 72: Roles of Specific Neuronal Populati
Page 73 and 74: clamp recording and optogenetics ha
Page 75 and 76: 2 Regulation of striatal neurons ex
Page 77 and 78: patch clamp recordings, presynaptic
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Page 83 and 84: Unveiling the role of the cystine/g
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- 5 Development of new x research t
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Verslag - Rapport - Report 2012 91
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Progress report of the research gro
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Charcot-Marie-Tooth neuropathies; f
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Reference List 1. Rotthier,A., Baet
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Slide presentations selected at int
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Celsr genes in brain development an
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cells sometimes pointed to, or oppo
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Study of the role of the NF-kB regu
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Since A20 is a key negative regulat
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References - De Jager, P.L. et al.
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From stem cells to cortical network
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We have thus generated a unique exp
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Publications resulting from work pe
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