1 to 10 of 14 literature results

• Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.

  Charcot-Marie-Tooth (CMT) neuropathies are common disorders of the peripheral nervous system caused by demyelination or axonal degeneration, or a comb…

  Authors: Albena Jordanova, Joy Irobi, Florian P Thomas, Patrick Van Dijck, Kris Meerschaert, Maarten Dewil, Ines Dierick, An Jacobs, Els De Vriendt, Velina Guergueltcheva,…

  Source: Nature genetics. 2006 Feb

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• Mutations in SEPT9 cause hereditary neuralgic amyotrophy.

  Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental f…

  Authors: Gregor Kuhlenbäumer, Mark C Hannibal, Eva Nelis, Anja Schirmacher, Nathalie Verpoorten, Jan Meuleman, Giles D J Watts, Els De Vriendt, Peter Young, Florian Stögbauer,…

  Source: Nature genetics. 2005 Oct

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• Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

  Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an a…

  Authors: Christian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, Heema Patel, Erwin Petek, Gerd Hörl, Roland Malli, Johanna A Reed, Ines Dierick, Nathalie Verpoorten,…

  Source: Nature genetics. 2004 Mar

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• Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

  Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disease and is characterized by considerable clinical and genetic heterog…

  Authors: Oleg V Evgrafov, Irena Mersiyanova, Joy Irobi, Ludo Van Den Bosch, Ines Dierick, Conrad L Leung, Olga Schagina, Nathalie Verpoorten, Katrien Van Impe, Valeriy Fedotov,…

  Source: Nature genetics. 2004 Jun

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• Molecular genetics of distal hereditary motor neuropathies.

  Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neu…

  Authors: Joy Irobi, Peter De Jonghe, Vincent Timmerman

  Source: Human molecular genetics. 2004 Oct 1

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• Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.

  Distal hereditary motor neuropathies are pure motor disorders of the peripheral nervous system resulting in severe atrophy and wasting of distal limb …

  Authors: Joy Irobi, Katrien Van Impe, Pavel Seeman, Albena Jordanova, Ines Dierick, Nathalie Verpoorten, Andrej Michalik, Els De Vriendt, An Jacobs, Veerle Van Gerwen,…

  Source: Nature genetics. 2004 Jun

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• DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

  Juvenile amyotrophic lateral sclerosis (ALS4) is a rare autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS) characterized by dista…

  Authors: 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,…

  Source: American journal of human genetics. 2004 Jun

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• Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response.

  The 27 kDa heat shock protein 1 (HSP27) is a member of the ubiquitously expressed small heat shock protein family and has pleiotropic cytoprotective f…

  Authors: Ines Dierick, Joy Irobi, Sophie Janssens, Jessie Theuns, Robin Lemmens, An Jacobs, Ellen Corsmit, Nicole Hersmus, Ludo Van Den Bosch, Wim Robberecht,…

  Source: Human mutation. 2007 Aug

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• Unraveling the genetics of distal hereditary motor neuronopathies.

  The hereditary motor neuronopathies (HMN [MIM 158590]) are a heterogeneous group of disorders characterized by an exclusive involvement of the motor p…

  Authors: Joy Irobi, Ines Dierick, Albena Jordanova, Kristl G Claeys, Peter De Jonghe, Vincent Timmerman

  Source: Neuromolecular medicine. 2006

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• Small heat shock proteins in inherited peripheral neuropathies.

  Small heat shock proteins (small HSPs) are molecular chaperones that protect cells against stress by assisting in the correct folding of denatured pro…

  Authors: Ines Dierick, Joy Irobi, Peter De Jonghe, Vincent Timmerman

  Source: Annals of medicine. 2005

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