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| Author(s) : Thimm A , Rahal A , Schoen U , Abicht A , Klebe S , Kleinschnitz C , Hagenacker T , Stettner M |
| Ref : J Peripher Nerv Syst , : , 2020 |
| Abstract : |
| PubMedSearch : Thimm_2020_J.Peripher.Nerv.Syst__ |
| PubMedID: 32077159 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Congenital myasthenic syndrome caused by novel COL13A1 mutations - Dusl_2019_J.Neurol_266_1107 |
| Author(s) : Dusl M , Moreno T , Munell F , Macaya A , Gratacos M , Abicht A , Strom TM , Lochmuller H , Senderek J |
| Ref : Journal of Neurology , 266 :1107 , 2019 |
| Abstract : |
| PubMedSearch : Dusl_2019_J.Neurol_266_1107 |
| PubMedID: 30767057 |
| Title : KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors - Natera-de Benito_2016_J.Neurol_263_517 |
| Author(s) : Natera-de Benito D , Nascimento A , Abicht A , Ortez C , Jou C , Muller JS , Evangelista T , Topf A , Thompson R , Jimenez-Mallebrera C , Colomer J , Lochmuller H |
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| Abstract : |
| PubMedSearch : Natera-de Benito_2016_J.Neurol_263_517 |
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| Ref : Journal of Neurology , 259 :838 , 2012 |
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| PubMedSearch : Guergueltcheva_2012_J.Neurol_259_838 |
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| Abstract : |
| PubMedSearch : Schara_2010_Eur.J.Paediatr.Neurol_14_326 |
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| Title : Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes - |
| Author(s) : Mihaylova V , Salih MA , Mukhtar MM , Abuzeid HA , El-Sadig SM , von der Hagen M , Huebner A , Nurnberg G , Abicht A , Muller JS , Lochmuller H , Guergueltcheva V |
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| Abstract : |
| PubMedSearch : Mihaylova_2008_Brain_131_747 |
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| Author(s) : Colomer J , Muller JS , Vernet A , Nascimento A , Pons M , Gonzalez V , Abicht A , Lochmuller H |
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| Abstract : |
| PubMedSearch : Colomer_2006_Neuromuscul.Disord_16_329 |
| PubMedID: 16621558 |
| Title : Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene - Muller_2004_Neuropediatrics_35_183 |
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| PubMedSearch : Muller_2004_Neuropediatrics_35_183 |
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| Title : Mutation history of the roma\/gypsies - Morar_2004_Am.J.Hum.Genet_75_596 |
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| Abstract : |
| PubMedSearch : Morar_2004_Am.J.Hum.Genet_75_596 |
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| Abstract : |
| PubMedSearch : Abicht_2002_Brain_125_1005 |
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| Author(s) : Abicht A , Muller-Felber W , Fischer P , Jakob I , Kurz L , Rudel R , Mortier W , Pongratz D , Lochmuller H |
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| Abstract : |
| PubMedSearch : Abicht_1997_Eur.J.Med.Res_2_515 |
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