TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.

TétreaultM.; PutortiM.L.; ThiffaultI.; SylvainM.; VenderverA.; SchiffmannR.; BraisB.; BernardG.

首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.

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TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.

机译：TACH白细胞营养不良：基因座细化到染色体10q22.3-23.1。

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Leukodystrophies are a heterogeneous group of neuro-degenerative disorders affecting preferentially the central nervous system white matter. These disorders lead to progressive spasticity and other upper motor neuron signs, as Well as developmental and/or cognitive regression. In some instances, patients may have cerebellar ataxia, peripheral nerve involvement, psychiatric symptoms, and movement disorders1. We recently described a new form of childhood-onset leukodystrophy TACH (Tremor-ataxia with central hypomyelination) and mapped its locus to chromosome 10q22.3-10q23.31.

机译：白细胞营养不良是神经退行性疾病的异质性组，其优先影响中枢神经系统白质。这些疾病导致进行性痉挛和其他上运动神经元体征，以及发育和/或认知退化。在某些情况下，患者可能患有小脑性共济失调，周围神经受累，精神病症状和运动障碍。我们最近描述了一种新形式的儿童期白细胞营养不良TACH（Tremor-共济失调伴中央性髓鞘减少），并将其基因座定位于染色体10q22.3-10q23.31。

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《The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques》 |2012年第1期|共2页
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TétreaultM.; PutortiM.L.; ThiffaultI.; SylvainM.; VenderverA.; SchiffmannR.; BraisB.; BernardG.;
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中图分类神经病学与精神病学;
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1. TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1. [J] . TétreaultM., PutortiM.L., ThiffaultI., The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques . 2012,第1期

机译：TACH白细胞营养不良：基因座细化到染色体10q22.3-23.1。
2. Refinement of the dentinogenesis imperfecta type II locus to an interval of less than 2 centiMorgans at chromosome 4q21 and the creation of a yeast artificial chromosome contig of the critical region. [J] . Aplin HM, Hirst KL, Dixon MJ Journal of Dental Research: Official Publication of the International Association for Dental Research . 1999,第6期

机译：将II型牙本质不全缺陷基因座细化到4q21染色体上小于2厘摩的间隔，并在关键区域创建酵母人工染色体重叠群。
3. Refinement of the dentinogenesis imperfecta type II locus to an interval of less than 2 centiMorgans at chromosome 4q21 and the creation of a yeast artificial chromosome contig of the critical region. [J] . Aplin HM, Hirst KL, Dixon MJ Journal of Dental Research: Official Publication of the International Association for Dental Research . 1999,第6期

机译：将II型牙本质不全缺陷基因座细化到4q21染色体上小于2厘摩的间隔，并在关键区域创建酵母人工染色体重叠群。
4. Image Analysis of Gene Locus Positions Within Chromosome Territories in Human Lymphocytes [C] . Karel Stepka, Martin Falk International doctoral workshop on mathematical and engineering methods in computer science . 2014

机译：人类淋巴细胞染色体区域内基因位点位置的图像分析
5. Mapping and Characterization of a Wheat Drought Tolerance Locus in Near Isogenic 1RS Chromosome Arm Translocations [D] . Howell, Tyson Ronald. 2016

机译：近代染色体1RS染色体臂换向麦片耐耐受轨迹的映射和表征
6. Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31 [O] . Geneviève Bernard, Isabelle Thiffault, Martine Tetreault, -1

机译：震颤与中枢性低聚（TACH）Leukodystrophy地图到染色体10Q22.3-10Q23.31
7. TACH Leukodystrophy: Locus Refinement to Chromosome 10q22.3-23.1 [O] . Martine Tétreault, Maria Lisa Putorti, Isabelle Thiffault, 2012

机译：Tach Leukodystrophy：染色体的基因座细化10Q22.3-23.1

TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.

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