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Ines Dierick

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DNA Mutational Analysis

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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.
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.
Jonathan Baets; Ines Dierick; Chantal Ceuterick-de Groote; Jenneke van den Ende; Jean-Jacques Martin; Karin Geens; Wim Robberecht; Eva Nelis; Vincent Timmerman; Peter De Jonghe
Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.

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All Publications

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.
2009: Jonathan Baets; Ines Dierick; Chantal Ceuterick-de Groote; Jenneke van den Ende; Jean-Jacques Martin; Karin Geens; Wim Robberecht; Eva Nelis; Vincent Timmerman; Peter De Jonghe
Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.
Neuromuscular disorders : NMD 2009;19(2):172-5.
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: 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; 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: Eva Nelis; J Berciano; Nathalie Verpoorten; Katrien Coen; Ines Dierick; Veerle Van Gerwen; O Combarros; Peter De Jonghe; Vincent Timmerman
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.
Journal of medical genetics 2004;41(3):193-7.
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.
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.