The C9ORF72 syndrome: implications for clinical practice.

Neil P Robertson

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The C9ORF72 syndrome: implications for clinical practice.

机译：C9ORF72综合征：对临床实践的影响。

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Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are part of a clinical spectrum associated with specific pathological findings and kindreds which variably express ALS, FTD, or overlapping features of both these disorders. Until recently, only two groups of mutations had been described associated with these kindreds; firstly mutations in the microtubule-associated protein tau gene (MAPT) in FTD with tauopathy in 1998, and secondly progranulin (PGRN) mutations in FTD in 2006.

机译：额颞叶痴呆（FTD）和肌萎缩性侧索硬化症（ALS）是与特定病理学发现和种类有关的临床谱的一部分，这些病理表现和种类多样地表达ALS，FTD或这两种疾病的重叠特征。直到最近，仅描述了与这些亲缘族相关的两组突变。首先是1998年患有tau病的FTD中的微管相关蛋白tau基因（MAPT）突变，其次是2006年FTD中的前颗粒蛋白（PGRN）突变。

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《Journal of neurology》 |2012年第4期|共3页
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Neil P Robertson;
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1. The C9ORF72 syndrome: implications for clinical practice. [J] . Neil P Robertson Journal of neurology . 2012,第4期

机译：C9ORF72综合征：对临床实践的影响。
2. Cognitive and behavioral outcomes of epileptic syndromes: implications for education and clinical practice. [J] . Besag FM Epilepsia: Journal of the International League against Epilepsy . 2006,第Suppla2期

机译：癫痫综合征的认知和行为结果：对教育和临床实践的影响。
3. Growth curves in Down syndrome: implications for clinical practice. [J] . Fabio Bertapelli, Juan Eduardo Samur-San Martin, Ezequiel Moreira Gon?alves, American journal of medical genetics, Part A . 2014,第3期

机译：唐氏综合症的生长曲线：对临床实践的影响。
4. Early and long term clinical outcomes from the treatment of proximal LAD stenoses with drug-eluting stents, in real-world clinical practice. [C] . Graidis C., Dimitriadis D., Ntatsios A., International Congress on Coronary Artery Disease . 2009

机译：早期和长期的临床结果从近端小伙子的近端狭窄与毒品洗脱支架，在现实世界临床实践中。
5. Modeling the patient and anesthesia machine system: Implications for equipment design and clinical practice. [D] . Beams, David Michael. 1997

机译：对患者和麻醉机系统建模：对设备设计和临床实践的影响。
6. Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease [O] . Mark T. W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, 2018

机译：跨C9orf72GGGGCC的长读测序重复扩展：对人类疾病的临床应用和基因发现工作的意义
7. Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72 [O] . Marka van Blitterswijk, Tania F. Gendron, Matthew C. Baker, 2015

机译：具有特定C9ORF72转录物的新型临床关联，在C9ORF72中重复扩展患者

The C9ORF72 syndrome: implications for clinical practice.

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