Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family

Rius Rocio; Gonzalez-del Angel Ariadna; Velazquez-Aragon Jose A.; Cordero-Guzman Luz M.; Munoz-Hernandez Silvia E.; Alcantara-Ortigoza Miguel A.

首页> 外文期刊>Neurology India. >Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family

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Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family

机译：鉴定与遗传马达和感官神经病变相关的新型SLC12A6病原变异，具有非法国人（HMSN / ACC）在非法国加拿大家族中的验证

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来源
《Neurology India.》 |2018年第4期|共4页
作者
Rius Rocio; Gonzalez-del Angel Ariadna; Velazquez-Aragon Jose A.; Cordero-Guzman Luz M.; Munoz-Hernandez Silvia E.; Alcantara-Ortigoza Miguel A.;
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作者单位

Inst Nacl Pediat Lab Biol Mol Dept Genet Humana Mexico City DF Mexico;

Inst Nacl Pediat Lab Biol Mol Dept Genet Humana Mexico City DF Mexico;

Inst Nacl Pediat Lab Biol Mol Dept Genet Humana Mexico City DF Mexico;

Inst Nacl Pediat Serv Neurofisiol Mexico City DF Mexico;

Inst Nacl Pediat Serv Neurofisiol Mexico City DF Mexico;

Inst Nacl Pediat Lab Biol Mol Dept Genet Humana Mexico City DF Mexico;

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正文语种 eng
中图分类神经病学与精神病学;
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1. Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family [J] . Rius Rocio, Gonzalez-del Angel Ariadna, Velazquez-Aragon Jose A., Neurology India. . 2018,第4期

机译：鉴定与遗传马达和感官神经病变相关的新型SLC12A6病原变异，具有非法国人（HMSN / ACC）在非法国加拿大家族中的验证
2. Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum [J] . Adèle Salin-Cantegrel, Jean-Baptiste Rivière, Masoud Shekarabi, The Journal of biological chemistry . 2011,第32期

机译：氯化钾共转运蛋白的过渡缺陷是遗传运动和感官神经病变的主要致病机制，具有胼calloSum的验证
3. Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum [J] . ShekarabiM., MoldrichR.X., RasheedS., The Journal of Neuroscience: The Official Journal of the Society for Neuroscience . 2012,第11期

机译：神经元钾/氯化物共转运蛋白3（KCC3）的丧失是遗传性运动和与call体发育不全相关的感觉神经病的条件小鼠模型中的退化表型的原因
4. Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum [O] . Adèle Salin-Cantegrel, Jean-Baptiste Rivière, Masoud Shekarabi, 2011

机译：氯化钾共转运蛋白3的运输缺陷是遗传性运动和感觉神经病伴the体发育的主要致病机制。
5. Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum [O] . Shekarabi Masoud, Moldrich Randal X., Rasheed Sarah, 2012

机译：神经元钾/氯化物共转运蛋白3（KCC3）的丧失是遗传性运动和call体发育不全相关的感觉神经病的条件小鼠模型中的退化表型的原因

Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family

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