Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Ines Dierick"'
Autor:
Claudia Meyer, Ines Dierick, Glenn Gauderat, Jurgen Langenhorst, Céline Sarr, Emilie Leroux, Marylore Chenel, Sylvain Fouliard, Paul Passier
Publikováno v:
Clinical Pharmacology & Therapeutics. 113:310-320
During development of a drug, the requirement of evaluating the proarrhythmic risk and delayed repolarization needs to be fulfilled. Would it be possible to create an alternative to a thorough QT (TQT) study or is there a need to perform a dedicated
Autor:
Radim Mazanec, Luciano Merlini, Eva Nelis, Peter Van den Bergh, Anne-Marie Jacobs, Andrzej Kochański, Joy Irobi, Vincent Timmerman, Dirk Fischer, Jonathan Baets, Wim Robberecht, Tine Deconinck, Albena Jordanova, Pavel Seeman, Els De Vriendt, Raul Juntas Morales, Michaela Auer-Grumbach, Zoran Mitrović, John H. J. Wokke, Ines Dierick, Vedrana Milic Rasic, A. T. J. M. Helderman-van den Enden, Peter De Jonghe
Publikováno v:
Brain
Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal alpha-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN ; glyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e645225795d20a3d550af3d87b80df
http://doc.rero.ch/record/299093/files/awn029.pdf
http://doc.rero.ch/record/299093/files/awn029.pdf
Publikováno v:
NeuroMolecular Medicine. 8:131-146
The hereditary motor neuronopathies (HMN [MIM 158590]) are a heterogeneous group of disorders characterized by an exclusive involvement of the motor part of the peripheral nervous system. They are usually subdivided in proximal HMN, i.e., the classic
Autor:
Veerle Van Gerwen, Vincent Timmerman, Klaus Wagner, Luciano Merlini, Christian Windpassinger, Christine Verellen, Albena Jordanova, Peter Van den Bergh, Ines Dierick, Michaela Auer-Grumbach, Nathalie Verpoorten, Lionel Van Maldergem, Els De Vriendt, Joy Irobi, Peter De Jonghe
Publikováno v:
Brain
Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and spasticity in the lower limbs. The locus for Silver syndrome (SPG17) was assigned to a 13 cM region on c
Autor:
Vincent Timmerman, P. De Jonghe, Ines Dierick, V. Milić-Rašić, Sanja Pavlovic, Vidosava Rakocevic-Stojanovic, Jonathan Baets, Stojan Peric
Publikováno v:
Journal of the neurological sciences
Background Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 ( BSCL2 ) gene or Seipin . Aim To repo
Autor:
Ines Dierick, Leonardo Almeida-Souza, Joost Van Durme, Sofie Goethals, Jan Gettemans, Sophie Janssens, Vicky De Winter, Rodrigo Gallardo, Vincent Timmerman, Joost Schymkowitz, Frederic Rousseau, Joy Irobi
Publikováno v:
Journal of biological chemistry
The Journal of Biological Chemistry
The Journal of Biological Chemistry
Small heat shock proteins are molecular chaperones capable of maintaining denatured proteins in a folding-competent state. We have previously shown that missense mutations in the small heat shock protein HSPB1 (HSP27) cause distal hereditary motor ne
Autor:
Vincent Timmerman, Jean-Pierre Timmermans, Leonardo Almeida-Souza, Peter De Jonghe, J. Krishnan, Sofie Goethals, Ludo Van Den Bosch, Wim Robberecht, Sophie Janssens, Bob Asselbergh, Vicky De Winter, Ines Dierick, Joy Irobi
Publikováno v:
Human molecular genetics
Human Molecular Genetics
Human Molecular Genetics
Missense mutations (K141N and K141E) in the {alpha}-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which m
Autor:
Karin Geens, Jenneke van den Ende, Chantal Ceuterick-de Groote, Jean-Jacques Martin, Jonathan Baets, Wim Robberecht, Peter De Jonghe, Vincent Timmerman, Ines Dierick, Eva Nelis
Publikováno v:
Neuromuscular disorders
Gonadal dysgenesis with normal male karyotype (46XY) is a sexual differentiation disorder. So far three patients have been reported presenting the association of 46XY gonadal dysgenesis with peripheral neuropathy. Examination of sural nerves revealed
Autor:
Ines Dierick, Stephen W. Reddel, Vincent Timmerman, Monique M. Ryan, Joy Irobi, Robert A. Ouvrier, Garth A. Nicholson
Publikováno v:
Neuromuscular disorders
We describe a kindred with an unusual congenital lower motor neuron disorder with significant but static muscle weakness predominantly affecting the lower limbs. The proband had talipes equinovarus and congenital hip contractures and did not walk unt
Autor:
Christine Van Broeckhoven, Joy Irobi, Robin Lemmens, Ellen Corsmit, Wim Robberecht, Jessie Theuns, Ines Dierick, Sophie Janssens, An Jacobs, Nicole Hersmus, Ludo Van Den Bosch, Vincent Timmerman, Peter De Jonghe
Publikováno v:
Human mutation
The 27kDa heat shock protein 1 (HSP27) is a member of the ubiquitously expressed small heat shock protein family and has pleiotropic cytoprotective functions. Since HSP27 may act as a motor neuron survival factor, we analyzed the genetic contribution