1 to 10 of 26 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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• The SCN1A variant database: a novel research and diagnostic tool.

  The neuronal voltage-gated sodium channel Na(v)1.1 encoded by the SCN1A gene plays an important role in the generation and propagation of action poten…

  Authors: Lieve R F Claes, Liesbet Deprez, Arvid Suls, Jonathan Baets, Katrien Smets, Tine Van Dyck, Tine Deconinck, Albena Jordanova, Peter De Jonghe

  Source: Human mutation. 2009 Oct

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• Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

  Absence epilepsies of childhood are heterogeneous with most cases following complex inheritance. Those cases with onset before 4 years of age represen…

  Authors: Arvid Suls, Saul A Mullen, Yvonne G Weber, Kristien Verhaert, Berten Ceulemans, Renzo Guerrini, Thomas V Wuttke, Alberto Salvo-Vargas, Liesbet Deprez, Lieve R F Claes,…

  Source: Annals of neurology. 2009 Sep

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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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• Surface properties and behavior of lipid extracts from plasma membranes of cells cultured as monolayer and in tissue-like conditions.

  The differences in the surface active properties of native lipids extracted from plasma membranes of cells cultured as a monolayer and in three-dimens…

  Authors: Albena Jordanova, Nadezhda Stefanova, Galya Staneva, Roumen Pankov, Albena Momchilova, Zdravko Lalchev

  Source: Cell biochemistry and biophysics. 2009

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• L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.

  Over 40 mutations in the GDAP1 gene have been shown to segregate with Charcot-Marie-Tooth disease (CMT). Among these, only two mutations, i.e., S194X …

  Authors: Dagmara Kabzińska, Halina Strugalska-Cynowska, Anna Kostera-Pruszczyk, Barbara Ryniewicz, Renata Posmyk, Alina Midro, Pavel Seeman, Lucia Báranková, Magdalena Zimoń, Jonathan Baets,…

  Source: Neurogenetics. 2010 Mar 16

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• Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

  OBJECTIVE: Charcot-Marie-Tooth (CMT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor and sensory neurop…

  Authors: Stephan Züchner, Peter De Jonghe, Albena Jordanova, Kristl G Claeys, Velina Guergueltcheva, Sylvia Cherninkova, Steven R Hamilton, Greg Van Stavern, Karen M Krajewski, Jeffery Stajich,…

  Source: Annals of neurology. 2006 Feb

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• Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

  Genetic generalized epilepsy with febrile seizures plus (GEFS+) is an idiopathic generalized epileptic syndrome of heterogeneous phenotype. The cases …

  Authors: Petia S Dimova, Iglika Yordanova, Veneta Bojinova, Albena Jordanova, Ivo Kremenski

  Source: Pediatric neurology. 2010 Feb

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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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• Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.

  Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy is a genetic and phenotypic variant of classical CMT, characterized by intermediate nerv…

  Authors: Albena Jordanova, Florian P Thomas, Velina Guergueltcheva, Ivailo Tournev, Francisco A A Gondim, Borjana Ishpekova, Els De Vriendt, An Jacobs, Ivan Litvinenko, Neviana Ivanova,…

  Source: American journal of human genetics. 2003 Dec

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