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References (9)

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_
Author(s) : Barbeau S , Semprez F , Dobbertin A , Merriadec L , Roussange F , Eymard B , Sternberg D , Fournier E , Karasoy H , Martinat C , Legay C
Ref : Int J Mol Sci , 24 : , 2023
Abstract : Barbeau_2023_Int.J.Mol.Sci_24_
ESTHER : Barbeau_2023_Int.J.Mol.Sci_24_
PubMedSearch : Barbeau_2023_Int.J.Mol.Sci_24_
PubMedID: 38003406

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
Author(s) : Eymard B , Stojkovic T , Sternberg D , Richard P , Nicole S , Fournier E , Behin A , Laforet P , Servais L , Romero N , Fardeau M , Hantai D
Ref : Rev Neurol (Paris) , 169 Suppl 1 :S45 , 2013
Abstract : Eymard_2013_Rev.Neurol.(Paris)_169 Suppl 1_S45
ESTHER : Eymard_2013_Rev.Neurol.(Paris)_169 Suppl 1_S45
PubMedSearch : Eymard_2013_Rev.Neurol.(Paris)_169 Suppl 1_S45
PubMedID: 23452772

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
Ref : Neuromuscular Disorders , 23 :998 , 2013
Abstract : Bauche_2013_Neuromuscul.Disord_23_998
ESTHER : Bauche_2013_Neuromuscul.Disord_23_998
PubMedSearch : Bauche_2013_Neuromuscul.Disord_23_998
PubMedID: 24011702

Title : Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations - Wargon_2012_Neuromuscul.Disord_22_318
Author(s) : Wargon I , Richard P , Kuntzer T , Sternberg D , Nafissi S , Gaudon K , Lebail A , Bauche S , Hantai D , Fournier E , Eymard B , Stojkovic T
Ref : Neuromuscular Disorders , 22 :318 , 2012
Abstract : Wargon_2012_Neuromuscul.Disord_22_318
ESTHER : Wargon_2012_Neuromuscul.Disord_22_318
PubMedSearch : Wargon_2012_Neuromuscul.Disord_22_318
PubMedID: 22088788

Title : Severe and prolonged neurologic toxicity following subcutaneous chlorpyrifos self-administration: a case report - Soummer_2011_Clin.Toxicol.(Phila)_49_124
Author(s) : Soummer A , Megarbane B , Boroli F , Arbelot C , Saleh M , Moesch C , Fournier E , Rouby JJ
Ref : Clinical Toxicology (Phila) , 49 :124 , 2011
Abstract : Soummer_2011_Clin.Toxicol.(Phila)_49_124
ESTHER : Soummer_2011_Clin.Toxicol.(Phila)_49_124
PubMedSearch : Soummer_2011_Clin.Toxicol.(Phila)_49_124
PubMedID: 21370952

Title : Genomic analysis of the necrotrophic fungal pathogens Sclerotinia sclerotiorum and Botrytis cinerea - Amselem_2011_PLoS.Genet_7_e1002230
Author(s) : Amselem J , Cuomo CA , van Kan JA , Viaud M , Benito EP , Couloux A , Coutinho PM , de Vries RP , Dyer PS , Fillinger S , Fournier E , Gout L , Hahn M , Kohn L , Lapalu N , Plummer KM , Pradier JM , Quevillon E , Sharon A , Simon A , ten Have A , Tudzynski B , Tudzynski P , Wincker P , Andrew M , Anthouard V , Beever RE , Beffa R , Benoit I , Bouzid O , Brault B , Chen Z , Choquer M , Collemare J , Cotton P , Danchin EG , Da Silva C , Gautier A , Giraud C , Giraud T , Gonzalez C , Grossetete S , Guldener U , Henrissat B , Howlett BJ , Kodira C , Kretschmer M , Lappartient A , Leroch M , Levis C , Mauceli E , Neuveglise C , Oeser B , Pearson M , Poulain J , Poussereau N , Quesneville H , Rascle C , Schumacher J , Segurens B , Sexton A , Silva E , Sirven C , Soanes DM , Talbot NJ , Templeton M , Yandava C , Yarden O , Zeng Q , Rollins JA , Lebrun MH , Dickman M
Ref : PLoS Genet , 7 :e1002230 , 2011
Abstract : Amselem_2011_PLoS.Genet_7_e1002230
ESTHER : Amselem_2011_PLoS.Genet_7_e1002230
PubMedSearch : Amselem_2011_PLoS.Genet_7_e1002230
PubMedID: 21876677
Gene_locus related to this paper: botci-cutas , botci-q6rki2 , botf4-g2y7k8 , botfb-dapb , botfu-g2xyd8 , botfu-g2ynh8 , scls1-a7e814 , scls1-a7edc9 , scls1-a7edh1 , scls1-a7emm0 , scls1-a7eti8 , scls1-a7eu48 , scls1-a7f208 , scls1-dapb , botf4-g2xqp7 , scls1-a7eqq8 , botf4-g2xqc6 , scls1-a7ebs4 , botf4-g2xn51 , scls1-a7f5m9 , botf4-g2xti4 , botf4-g2xtu7 , botf4-g2yfp1 , scls1-a7f534 , botf4-g2yys3 , scls1-a7erz9 , botf4-g2y037 , botf4-g2y0e1 , scls1-a7f706 , scls1-a7ewt6 , botf4-g2yuj6 , botf1-m7u3d1 , botf1-m7u430 , botf1-m7tei8 , botf1-m7u0w9 , botf1-m7tij6 , botf1-m7u819 , botf1-m7u6d8 , botf1-m7tzd4 , botf1-m7tqd7 , botf1-m7tyz9 , botf1-m7unl9 , botf1-m7u429 , botf1-m7u4s5 , botf1-m7ul92 , botf1-m7tx42 , botf1-m7u9h4 , botf1-m7u187 , botf1-m7uz64 , botf1-m7u4q4 , botf1-m7u2f6 , botf1-m7tt59 , botf1-m7v3h2 , botf1-m7u6c9 , botf1-m7tud9 , botf1-m7u309 , scls1-a7et87 , botf4-g2ylt4 , scls1-a7f5a0 , scls1-a7f900 , botf4-g2yib9 , scls1-a7f3m9 , scls1-a7er46 , botf4-g2y3y4 , botf4-g2xyy5 , botf1-m7uct5 , scls1-a7ea78 , scls1-kex1 , scls1-cbpya , botfb-cbpya , scls1-a7ecx1

Title : Identification of an agrin mutation that causes congenital myasthenia and affects synapse function - Huze_2009_Am.J.Hum.Genet_85_155
Author(s) : Huze C , Bauche S , Richard P , Chevessier F , Goillot E , Gaudon K , Ben Ammar A , Chaboud A , Grosjean I , Lecuyer HA , Bernard V , Rouche A , Alexandri N , Kuntzer T , Fardeau M , Fournier E , Brancaccio A , Ruegg MA , Koenig J , Eymard B , Schaeffer L , Hantai D
Ref : American Journal of Human Genetics , 85 :155 , 2009
Abstract : Huze_2009_Am.J.Hum.Genet_85_155
ESTHER : Huze_2009_Am.J.Hum.Genet_85_155
PubMedSearch : Huze_2009_Am.J.Hum.Genet_85_155
PubMedID: 19631309

Title : Mutations in MUSK cause congenital myasthenic syndrome -
Author(s) : Chevessier F , Faraut B , Ravel-Chapuis A , Richard P , Gaudon K , Bauche S , Prioleau C , Herbst R , Goillot E , Ioos C , Azulay J-P , Attarian S , Leroy J-P , Fournier E , Legay C , Schaeffer L , Koenig J , Fardeau M , Eymard B , Pouget J , Hantai D
Ref : Journal de Physiologie (Paris) , 99 :256 , 2006
PubMedID:

Title : [Reactivation by 1-hydroxyimino-4-methyl-2-pentamone of plasma cholinesterases in the dog inhibited by different orgenophosphates]. [French] - Fournier_1975_Eur.J.Toxicol.Environ.Hyg_8_220
Author(s) : Fournier E , Quan DQ , Sonnier M , Lecorsier A , Bernadou J
Ref : European Journal of Toxicology & Environmental Hygiene Journal Europeen de Toxicologie , 8 :220 , 1975
Abstract : Fournier_1975_Eur.J.Toxicol.Environ.Hyg_8_220
ESTHER : Fournier_1975_Eur.J.Toxicol.Environ.Hyg_8_220
PubMedSearch : Fournier_1975_Eur.J.Toxicol.Environ.Hyg_8_220
PubMedID: 1175698