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Joy Irobi

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Joy Irobi; Dirk Adriaensen; Bob Asselbergh; Jan Gettemans; Anne Holmgren; Chantal Ceuterick-de Groote; Peter De Jonghe; Vicky De Winter; Rudy Van Coster; Vincent Timmerman
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients.
Leonardo Almeida-Souza; Bob Asselbergh; Abdelkrim Azmi; Vicky de Winter; Constantin d'Ydewalle; Kris Gevaert; Sofie Goethals; Joy Irobi; Kristof Moonens; Han Remaut; Vincent Timmerman; Jean-Pierre Timmermans; Ludo Van Den Bosch; Sophie Janssens
Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.
Constantin d'Ydewalle; Joy Irobi; Alan P Kozikowski; Jyothsna Krishnan; Wim Robberecht; Vincent Timmerman; Philip Van Damme; Driss M Chiheb; Pieter Vanden Berghe; Ludo Van Den Bosch
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease.

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All Publications

2012: Joy Irobi; Dirk Adriaensen; Bob Asselbergh; Jan Gettemans; Anne Holmgren; Chantal Ceuterick-de Groote; Peter De Jonghe; Vicky De Winter; Rudy Van Coster; Vincent Timmerman
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients.
Neuromuscular disorders : NMD 2012;22(8):699-711.
2011: Leonardo Almeida-Souza; Bob Asselbergh; Abdelkrim Azmi; Vicky de Winter; Constantin d'Ydewalle; Kris Gevaert; Sofie Goethals; Joy Irobi; Kristof Moonens; Han Remaut; Vincent Timmerman; Jean-Pierre Timmermans; Ludo Van Den Bosch; Sophie Janssens
Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2011;31(43):15320-8.
2011: Constantin d'Ydewalle; Joy Irobi; Alan P Kozikowski; Jyothsna Krishnan; Wim Robberecht; Vincent Timmerman; Philip Van Damme; Driss M Chiheb; Pieter Vanden Berghe; Ludo Van Den Bosch
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease.
Nature medicine 2011;17(8):968-74.
2010: Joy Irobi; Leonardo Almeida-Souza; Bob Asselbergh; Vicky De Winter; Sofie Goethals; Ines Dierick; Jyothsna Krishnan; Jean-Pierre Timmermans; Wim Robberecht; Peter De Jonghe; Ludo Van Den Bosch; Sophie Janssens; Vincent Timmerman
Mutant HSPB8 causes motor neuron-specific neurite degeneration.
Human molecular genetics 2010;19(16):3254-65.
2010: Leonardo Almeida-Souza; Sofie Goethals; Vicky de Winter; Ines Dierick; Rodrigo Gallardo; Joost Van Durme; Joy Irobi; Jan Gettemans; Frederic Rousseau; Joost Schymkowitz; Vincent Timmerman; Sophie Janssens
Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.
The Journal of biological chemistry 2010;285(17):12778-86.
2008: Ines Dierick; Jonathan Baets; Joy Irobi; An Jacobs; Els De Vriendt; Tine Deconinck; Luciano Merlini; P Y K Van Den Bergh; Vedrana Milic Rasic; Wim Robberecht; Dirk Fischer; Raul Juntas Morales; Zoran Mitrovic; Pavel Seeman; Radim Mazanec; Andrzej Kochanski; Albena Jordanova; Michaela Auer-Grumbach; A T J M Helderman-van den Enden; John H J Wokke; Eva Nelis; Peter De Jonghe; Vincent Timmerman
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Brain : a journal of neurology 2008;131(Pt 5):1217-27.
2007: Ines Dierick; Joy Irobi; Sophie Janssens; Jessie Theuns; Robin Lemmens; An Jacobs; Ellen Corsmit; Nicole Hersmus; Ludo Van Den Bosch; Wim Robberecht; Peter De Jonghe; Christine Van Broeckhoven; Vincent Timmerman
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response.
Human mutation 2007;28(8):830.
2006: Albena Jordanova; Joy Irobi; Florian P Thomas; Patrick Van Dijck; Kris Meerschaert; Maarten Dewil; Ines Dierick; An Jacobs; Els De Vriendt; Velina Guergueltcheva; Chitharanjan V Rao; Ivailo Tournev; F A A Gondim; Marc D'Hooghe; Veerle Van Gerwen; Patrick Callaerts; Ludo Van Den Bosch; Jean-Pierre Timmermans; Wim Robberecht; Jan Gettemans; Johan M Thevelein; Peter De Jonghe; Ivo Kremensky; Vincent Timmerman
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Nature genetics 2006;38(2):197-202.
2006: Joy Irobi; Ines Dierick; Albena Jordanova; Kristl G Claeys; Peter De Jonghe; Vincent Timmerman
Unraveling the genetics of distal hereditary motor neuronopathies.
Neuromolecular medicine 2006;8(1-2):131-46.
2005: Gregor Kuhlenbäumer; Mark C Hannibal; Eva Nelis; Anja Schirmacher; Nathalie Verpoorten; Jan Meuleman; Giles D J Watts; Els De Vriendt; Peter Young; Florian Stögbauer; Hartmut Halfter; Joy Irobi; Dirk Goossens; Jurgen Del-Favero; Benjamin G Betz; Hyun Hor; Gerhard Kurlemann; Thomas D Bird; Eila Airaksinen; Tarja Mononen; Adolfo Pou Serradell; José M Prats; Christine Van Broeckhoven; Peter De Jonghe; Vincent Timmerman; E Bernd Ringelstein; Phillip F Chance
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Nature genetics 2005;37(10):1044-6.
2005: Ines Dierick; Joy Irobi; Peter De Jonghe; Vincent Timmerman
Small heat shock proteins in inherited peripheral neuropathies.
Annals of medicine 2005;37(6):413-22.
2004: Joy Irobi; Peter De Jonghe; Vincent Timmerman
Molecular genetics of distal hereditary motor neuropathies.
Human molecular genetics 2004;13 Spec No 2():R195-202.
2004: Joy Irobi; P Y K Van Den Bergh; Luciano Merlini; Christine Verellen; Lionel Van Maldergem; Ines Dierick; Nathalie Verpoorten; Albena Jordanova; Christian Windpassinger; Els De Vriendt; Veerle Van Gerwen; Michaela Auer-Grumbach; Klaus Wagner; Vincent Timmerman; Peter De Jonghe
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
Brain : a journal of neurology 2004;127(Pt 9):2124-30.
2004: Oleg V Evgrafov; Irina V Mersiyanova; Joy Irobi; Ludo Van Den Bosch; Ines Dierick; Conrad L Leung; Olga Schagina; Nathalie Verpoorten; Katrien Van Impe; Valeriy Fedotov; Elena L Dadali; Michaela Auer-Grumbach; Christian Windpassinger; Klaus Wagner; Zoran Mitrovic; David Hilton-Jones; Kevin Talbot; Jean-Jacques Martin; Natalia Vasserman; Svetlana Tverskaya; Alexander V Polyakov; Ronald K H Liem; Jan Gettemans; Wim Robberecht; Peter De Jonghe; Vincent Timmerman
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nature genetics 2004;36(6):602-6.
2004: Joy Irobi; Katrien Van Impe; Pavel Seeman; Albena Jordanova; Ines Dierick; Nathalie Verpoorten; Andrej Michalik; Els De Vriendt; An Jacobs; Veerle Van Gerwen; Krist'l Vennekens; Radim Mazanec; Ivailo Tournev; David Hilton-Jones; Kevin Talbot; Ivo Kremensky; Ludo Van Den Bosch; Wim Robberecht; Joël Van Vandekerckhove; Christine Van Broeckhoven; Jan Gettemans; Peter De Jonghe; Vincent Timmerman
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Nature genetics 2004;36(6):597-601.
2004: Ying-Zhang Chen; Craig L Bennett; Huy M Huynh; Ian P Blair; Imke Puls; Joy Irobi; Ines Dierick; Annette Abel; Marina L Kennerson; Bruce A Rabin; Garth A Nicholson; Michaela Auer-Grumbach; Klaus Wagner; Peter De Jonghe; John W Griffin; Kenneth H Fischbeck; Vincent Timmerman; David R Cornblath; Phillip F Chance
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
American journal of human genetics 2004;74(6):1128-35.
2004: Christian Windpassinger; Michaela Auer-Grumbach; Joy Irobi; Heema Patel; Erwin Petek; Gerd Hörl; Roland Malli; Johanna A Reed; Ines Dierick; Nathalie Verpoorten; Thomas T Warner; christos proukakis; P Y K Van Den Bergh; Christine Verellen; Lionel Van Maldergem; Luciano Merlini; Peter De Jonghe; Vincent Timmerman; Andrew H Crosby; Klaus Wagner
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Nature genetics 2004;36(3):271-6.
2003: Ercan Demir; Joy Irobi; Sevim Erdem; Mehmet Demirci; Ersin Tan; Vincent Timmerman; Peter De Jonghe; Haluk Topaloglu
Andermann syndrome in a Turkish patient.
Journal of child neurology 2003;18(1):76-9.
2002: Joy Irobi; Eva Nelis; Kristien Verhoeven; Els De Vriendt; Ines Dierick; Peter De Jonghe; Christine Van Broeckhoven; Vincent Timmerman
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.
Journal of the peripheral nervous system : JPNS 2002;7(2):87-95.
2002: Peter De Jonghe; Michaela Auer-Grumbach; Joy Irobi; Klaus Wagner; Barbara Plecko; Marina L Kennerson; D Zhu; Els De Vriendt; Veerle Van Gerwen; G Nicholson; H-P Hartung; Vincent Timmerman
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
Brain : a journal of neurology 2002;125(Pt 6):1320-5.
2001: Joy Irobi; Eva Nelis; Jan Meuleman; Katrien Venken; Peter De Jonghe; Christine Van Broeckhoven; Vincent Timmerman
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.
Annals of human genetics 2001;65(Pt 6):517-29.
2001: Katrien Venken; Jan Meuleman; Joy Irobi; Chantal Ceuterick; R Martini; Peter De Jonghe; Vincent Timmerman
Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies.
Neuroreport 2001;12(11):2609-14.
2000: Joy Irobi; F Tissir; Peter De Jonghe; Els De Vriendt; Christine Van Broeckhoven; Vincent Timmerman; J Beuten
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene.
Genomics 2000;65(1):34-43.
1999: Joy Irobi; AG Schoofs; Herman Goossens
Genetic identification of Candida species in HIV-positive patients using the polymerase chain reaction and restriction fragment length polymorphism analysis of its DNA.
Molecular and cellular probes 1999;13(6):401-6.
1999: Joy Irobi; Vincent Timmerman; Peter De Jonghe; Els De Vriendt; Christine Van Broeckhoven; J Beuten
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24.
Annals of the New York Academy of Sciences 1999;883():463-5.
1999: Vincent Timmerman; J Beuten; Joy Irobi; Peter De Jonghe; Jean-Jacques Martin; Christine Van Broeckhoven
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics.
Annals of the New York Academy of Sciences 1999;883():60-4.