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Early Infantile Onset Non-5q Spinal Muscular Atrophies: A Diagnostic Odyssey.

作者信息

Suthar Renu, Bhagwat Chandana, Paria Pradip, Aggarwal Divya, Kumar Namita Ravi, Chatterjee Debajyoti, Saini Arushi G, Angurana Suresh Kumar, Sankhyan Naveen

机构信息

Department of Pediatrics, Pediatric Neurology Unit, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Ann Indian Acad Neurol. 2021 Nov-Dec;24(6):995-997. doi: 10.4103/aian.AIAN_680_20. Epub 2021 Feb 10.

DOI:10.4103/aian.AIAN_680_20
PMID:35359517
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8965950/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b04/8965950/88cc78e1fb8c/AIAN-24-995-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b04/8965950/cf2d22195996/AIAN-24-995-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b04/8965950/1d00b65ea81b/AIAN-24-995-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b04/8965950/88cc78e1fb8c/AIAN-24-995-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b04/8965950/cf2d22195996/AIAN-24-995-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b04/8965950/1d00b65ea81b/AIAN-24-995-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b04/8965950/88cc78e1fb8c/AIAN-24-995-g003.jpg

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Am J Med Genet A. 2019 Aug;179(8):1580-1584. doi: 10.1002/ajmg.a.61198. Epub 2019 May 18.
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Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.CCP1 微管谷氨酰胺酶缺失导致婴儿起病的神经退行性变。
EMBO J. 2018 Dec 3;37(23). doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.
3
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
靶向测序结合扩展基因谱可提高非 5q-脊髓性肌萎缩症的诊断产量。
Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25.
4
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.遗传性小儿运动神经元疾病：超越脊髓性肌萎缩症
Neural Plast. 2017;2017:6509493. doi: 10.1155/2017/6509493. Epub 2017 May 28.
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Old measures and new scores in spinal muscular atrophy patients.脊髓性肌萎缩症患者的旧有指标与新评分
Muscle Nerve. 2015 Sep;52(3):435-7. doi: 10.1002/mus.24748. Epub 2015 Jul 24.
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