| Title : Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ - Barbeau_2023_Int.J.Mol.Sci_24_ |
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| Abstract : |
| PubMedSearch : Barbeau_2023_Int.J.Mol.Sci_24_ |
| PubMedID: 38003406 |
| Title : Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families - Kediha_2023_Rev.Neurol.(Paris)__ |
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| Ref : Rev Neurol (Paris) , : , 2023 |
| Abstract : |
| PubMedSearch : Kediha_2023_Rev.Neurol.(Paris)__ |
| PubMedID: 36764859 |
| Title : Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ - Barbeau_2020_Stem.Cell.Res_49_102106 |
| Author(s) : Barbeau S , Desprat R , Eymard B , Martinat C , Lemaitre JM , Legay C |
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| Abstract : |
| PubMedSearch : Barbeau_2020_Stem.Cell.Res_49_102106 |
| PubMedID: 33370874 |
| Title : Marathons and myasthenia gravis: a case report - Birnbaum_2018_BMC.Neurol_18_145 |
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| PubMedSearch : Birnbaum_2018_BMC.Neurol_18_145 |
| PubMedID: 30227849 |
| Title : Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea - Bauche_2016_Am.J.Hum.Genet_99_753 |
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| PubMedID: 27569547 |
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| PubMedSearch : Eymard_2014_Rev.Med.Interne_35_421 |
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| Title : Diagnostic and clinical classification of autoimmune myasthenia gravis - Berrih-Aknin_2014_J.Autoimmun_48-49_143 |
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| Abstract : |
| PubMedSearch : Berrih-Aknin_2014_J.Autoimmun_48-49_143 |
| PubMedID: 24530233 |
| Title : Antibodies to clustered acetylcholine receptor: expanding the phenotype - Devic_2014_Eur.J.Neurol_21_130 |
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| Ref : Eur Journal of Neurology , 21 :130 , 2014 |
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| PubMedSearch : Devic_2014_Eur.J.Neurol_21_130 |
| PubMedID: 24112557 |
| Title : Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome - Bauche_2013_Neuromuscul.Disord_23_998 |
| Author(s) : Bauche S , Boerio D , Davoine CS , Bernard V , Stum M , Bureau C , Fardeau M , Romero NB , Fontaine B , Koenig J , Hantai D , Gueguen A , Fournier E , Eymard B , Nicole S |
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| Abstract : |
| PubMedSearch : Bauche_2013_Neuromuscul.Disord_23_998 |
| PubMedID: 24011702 |
| Title : [Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy - The French national Congenital Myasthenic Syndrome network experience] - Eymard_2013_Rev.Neurol.(Paris)_169 Suppl 1_S45 |
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| PubMedSearch : Eymard_2013_Rev.Neurol.(Paris)_169 Suppl 1_S45 |
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| Title : Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations - Wargon_2012_Neuromuscul.Disord_22_318 |
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| Title : Identification of an agrin mutation that causes congenital myasthenia and affects synapse function - Huze_2009_Am.J.Hum.Genet_85_155 |
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| PubMedID: 19631309 |
| Title : The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa - Richard_2008_Neurology_71_1967 |
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| PubMedSearch : Richard_2008_Neurology_71_1967 |
| PubMedID: 19064877 |
| Title : Congenital myasthenic syndrome caused by decreased receptor channel openings due to a novel mutation in the nAChR e-subunit - |
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| Title : Mutations in MUSK cause congenital myasthenic syndrome - |
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| Title : The origin of tubular aggregates in human myopathies - Chevessier_2005_J.Pathol_207_313 |
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| PubMedSearch : Chevessier_2005_J.Pathol_207_313 |
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| Title : Congenital myasthenic syndromes - Hantai_2004_Curr.Opin.Neurol_17_539 |
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| PubMedSearch : Hantai_2004_Curr.Opin.Neurol_17_539 |
| PubMedID: 15367858 |
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| PubMedSearch : Andreux_2004_Rev.Neurol.(Paris)_160_163 |
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| Title : Accumulation of acetylcholine receptors is a necessary condition for normal accumulation of acetylcholinesterase during in vitro neuromuscular synaptogenesis - De La Porte_1998_Eur.J.Neurosci_10_1631 |
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| Ref : European Journal of Neuroscience , 10 :1631 , 1998 |
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| PubMedSearch : De La Porte_1998_Eur.J.Neurosci_10_1631 |
| PubMedID: 9751136 |
| Title : Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic) - Donger_1998_Am.J.Hum.Genet_63_967 |
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| Ref : American Journal of Human Genetics , 63 :967 , 1998 |
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| PubMedSearch : Donger_1998_Am.J.Hum.Genet_63_967 |
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| PubMedSearch : De la Porte_1993_J.Neurol.Sci_117_92 |
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| Title : Neonatal myasthenia gravis: antigenic specificities of antibodies in sera from mothers and their infants - Tzartos_1990_Clin.Exp.Immunol_80_376 |
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| PubMedSearch : Tzartos_1990_Clin.Exp.Immunol_80_376 |
| PubMedID: 1695559 |