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Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation

机译：遗传运动感觉神经病变（1型）呈现出瞬态和持续的中枢神经系统表现：一种新的遗传突变

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Michael Absoud; Louise Brueton; Rajat Gupta; Ros Quinlivan; Evangeline Wassmer;
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年度 2011
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1. Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation [J] . Michael Absoud Louise Brueton Rajat Gupta Developmental Medicine and Child Neurology . 2011 ,第4期

机译：遗传性运动感觉神经病（1型），表现为短暂性和持续性中枢神经系统表现：一种新的基因突变
2. Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation. [J] . Absoud M, Brueton L, Gupta R, Developmental Medicine and Child Neurology . 2011 ,第4期

机译：遗传性运动感觉神经病（1型），表现为短暂性和持续性中枢神经系统表现：一种新的基因突变。
3. The Evaluation of Autonomic Nervous Function in a Patient with Hereditary Sensory and Autonomic Neuropathy Type IV with Novel Mutations of the TRKA Gene. [J] . Ohto T, Iwasaki N, Fujiwara J, Neuropediatrics . 2004 ,第5期

机译：遗传性感官和自主神经病IV型伴有TRKA基因新突变的患者的自主神经功能评估。
4. Chronic Lymphocytic Leukemia with the Peripheral Neuropathy After Efficient Treatment of Central Nervous System Involvement [C] . M. Kowal, A. Dmoszynska, A. Fidor, European Haematology Association . 2002

机译：慢性淋巴细胞白血病与周围神经病变后有效治疗中枢神经系统的参与
5. Glycyl-tRNA synthetase mutations cause Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V: A potentially novel disease mechanism for human peripheral neuropathies. [D] . Antonellis, Anthony. 2005

机译：糖基-tRNA合成酶突变导致2D型Charcot-Marie-Tooth病和V型远端脊髓性肌萎缩症：人类周围神经病的潜在新型疾病机制。
6. Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II [O] . Masoud Shekarabi, Nathalie Girard, Jean-Baptiste Rivière, 2008

机译：WNK1的神经系统特定HSN2外显子突变导致遗传性感觉神经病II型
7. Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II [O] . Shekarabi, Masoud, Girard, Nathalie, Rivière, Jean-Baptiste, 2008

机译：WNK1的神经系统特定HSN2外显子突变导致遗传性感觉神经病II型

Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation

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