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Items: 1 to 20 of 30

1.

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.

Krols M, Asselbergh B, De Rycke R, De Winter V, Seyer A, Müller FJ, Kurth I, Bultynck G, Timmerman V, Janssens S.

Hum Mol Genet. 2018 Oct 18. doi: 10.1093/hmg/ddy352. [Epub ahead of print]

PMID:
30339187
2.

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease.

Gusareva ES, Twizere JC, Sleegers K, Dourlen P, Abisambra JF, Meier S, Cloyd R, Weiss B, Dermaut B, Bessonov K, van der Lee SJ, Carrasquillo MM, Katsumata Y, Cherkaoui M, Asselbergh B, Ikram MA, Mayeux R, Farrer LA, Haines JL, Pericak-Vance MA, Schellenberg GD; Genetic and Environmental Risk in Alzheimer's Disease 1 consortium (GERAD1); Alzheimer's Disease Genetics Consortium (ADGC); European Alzheimer Disease Initiative Investigators (EADI1 Consortium), Sims R, Williams J, Amouyel P, van Duijn CM, Ertekin-Taner N, Van Broeckhoven C, Dequiedt F, Fardo DW, Lambert JC, Van Steen K.

Neurobiol Aging. 2018 Dec;72:188.e3-188.e12. doi: 10.1016/j.neurobiolaging.2018.08.001. Epub 2018 Aug 9.

PMID:
30201328
3.

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.

Krols M, Detry S, Asselbergh B, Almeida-Souza L, Kremer A, Lippens S, De Rycke R, De Winter V, Müller FJ, Kurth I, McMahon HT, Savvides SN, Timmerman V, Janssens S.

Cell Rep. 2018 May 15;23(7):2026-2038. doi: 10.1016/j.celrep.2018.04.071.

4.

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.

Bouhy D, Juneja M, Katona I, Holmgren A, Asselbergh B, De Winter V, Hochepied T, Goossens S, Haigh JJ, Libert C, Ceuterick-de Groote C, Irobi J, Weis J, Timmerman V.

Acta Neuropathol. 2018 Jan;135(1):131-148. doi: 10.1007/s00401-017-1756-0. Epub 2017 Aug 5.

5.

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, Asselbergh B, Klein C, Zuchner S, Jordanova A, Vangheluwe P, Tournev I, Schüle R.

Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307.

6.

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

Atkinson D, Nikodinovic Glumac J, Asselbergh B, Ermanoska B, Blocquel D, Steiner R, Estrada-Cuzcano A, Peeters K, Ooms T, De Vriendt E, Yang XL, Hornemann T, Milic Rasic V, Jordanova A.

Neurology. 2017 Feb 7;88(6):533-542. doi: 10.1212/WNL.0000000000003595. Epub 2017 Jan 11.

7.

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.

Geuens T, De Winter V, Rajan N, Achsel T, Mateiu L, Almeida-Souza L, Asselbergh B, Bouhy D, Auer-Grumbach M, Bagni C, Timmerman V.

Acta Neuropathol Commun. 2017 Jan 11;5(1):5. doi: 10.1186/s40478-016-0407-3.

8.

Mitochondria-associated membranes as hubs for neurodegeneration.

Krols M, van Isterdael G, Asselbergh B, Kremer A, Lippens S, Timmerman V, Janssens S.

Acta Neuropathol. 2016 Apr;131(4):505-23. doi: 10.1007/s00401-015-1528-7. Epub 2016 Jan 7. Review.

9.

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium.

Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17.

PMID:
26384929
10.

Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations.

Bettens K, Vermeulen S, Van Cauwenberghe C, Heeman B, Asselbergh B, Robberecht C, Engelborghs S, Vandenbulcke M, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K.

Mol Neurodegener. 2015 Jul 16;10:30. doi: 10.1186/s13024-015-0024-9.

11.

Developing 3D SEM in a broad biological context.

Kremer A, Lippens S, Bartunkova S, Asselbergh B, Blanpain C, Fendrych M, Goossens A, Holt M, Janssens S, Krols M, Larsimont JC, Mc Guire C, Nowack MK, Saelens X, Schertel A, Schepens B, Slezak M, Timmerman V, Theunis C, VAN Brempt R, Visser Y, Guérin CJ.

J Microsc. 2015 Aug;259(2):80-96. doi: 10.1111/jmi.12211. Epub 2015 Jan 26.

12.

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.

Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A.

Neurobiol Dis. 2014 Aug;68:180-9. doi: 10.1016/j.nbd.2014.04.020. Epub 2014 May 5.

13.

Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.

Janssens K, Goethals S, Atkinson D, Ermanoska B, Fransen E, Jordanova A, Auer-Grumbach M, Asselbergh B, Timmerman V.

Neurobiol Dis. 2014 May;65:211-9. doi: 10.1016/j.nbd.2014.01.021. Epub 2014 Feb 9.

PMID:
24521780
14.

HSPB1 facilitates the formation of non-centrosomal microtubules.

Almeida-Souza L, Asselbergh B, De Winter V, Goethals S, Timmerman V, Janssens S.

PLoS One. 2013 Jun 24;8(6):e66541. doi: 10.1371/journal.pone.0066541. Print 2013.

15.

Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.

Holmgren A, Bouhy D, De Winter V, Asselbergh B, Timmermans JP, Irobi J, Timmerman V.

Acta Neuropathol. 2013 Jul;126(1):93-108. doi: 10.1007/s00401-013-1133-6. Epub 2013 Jun 1.

16.

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.

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.

Am J Hum Genet. 2013 Jun 6;92(6):955-64. doi: 10.1016/j.ajhg.2013.04.013. Epub 2013 May 9.

17.

Diffusion kurtosis imaging to detect amyloidosis in an APP/PS1 mouse model for Alzheimer's disease.

Vanhoutte G, Pereson S, Delgado Y Palacios R, Guns PJ, Asselbergh B, Veraart J, Sijbers J, Verhoye M, Van Broeckhoven C, Van der Linden A.

Magn Reson Med. 2013 Apr;69(4):1115-21. doi: 10.1002/mrm.24680. Epub 2013 Mar 11.

18.

Caspase-14-deficient mice are more prone to the development of parakeratosis.

Hoste E, Denecker G, Gilbert B, Van Nieuwerburgh F, van der Fits L, Asselbergh B, De Rycke R, Hachem JP, Deforce D, Prens EP, Vandenabeele P, Declercq W.

J Invest Dermatol. 2013 Mar;133(3):742-750. doi: 10.1038/jid.2012.350. Epub 2012 Sep 27.

19.

Acute injury in the peripheral nervous system triggers an alternative macrophage response.

Ydens E, Cauwels A, Asselbergh B, Goethals S, Peeraer L, Lornet G, Almeida-Souza L, Van Ginderachter JA, Timmerman V, Janssens S.

J Neuroinflammation. 2012 Jul 20;9:176. doi: 10.1186/1742-2094-9-176.

20.

Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients.

Irobi J, Holmgren A, De Winter V, Asselbergh B, Gettemans J, Adriaensen D, Ceuterick-de Groote C, Van Coster R, De Jonghe P, Timmerman V.

Neuromuscul Disord. 2012 Aug;22(8):699-711. doi: 10.1016/j.nmd.2012.04.005. Epub 2012 May 15.

PMID:
22595202

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