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The nosology of the spinal muscular atrophies.

作者信息

Emery A E

出版信息

J Med Genet. 1971 Dec;8(4):481-95. doi: 10.1136/jmg.8.4.481.

DOI:10.1136/jmg.8.4.481
PMID:4948374
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1469097/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/0ef660ed16a6/jmedgene00367-0096-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/a72f533543b1/jmedgene00367-0087-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/bff881b795ff/jmedgene00367-0088-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/b80c0ba485b3/jmedgene00367-0089-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/f789625b2599/jmedgene00367-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/936d3d245827/jmedgene00367-0092-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/0ef660ed16a6/jmedgene00367-0096-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/a72f533543b1/jmedgene00367-0087-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/bff881b795ff/jmedgene00367-0088-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/b80c0ba485b3/jmedgene00367-0089-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/f789625b2599/jmedgene00367-0090-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/936d3d245827/jmedgene00367-0092-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3a8/1469097/0ef660ed16a6/jmedgene00367-0096-a.jpg

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Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.儿科患者的 5q- 和非 5q- 脊髓性肌萎缩症的临床和遗传特征。
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Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?

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Course and symptoms of progressive infantile muscular atrophy; a follow-up study of 112 cases in Denmark.进行性婴儿型肌肉萎缩的病程及症状；丹麦112例病例的随访研究
Arch Neurol Psychiatry. 1950 Feb;63(2):218-28. doi: 10.1001/archneurpsyc.1950.02310200026003.
2
Infantile progressive spinal muscular atrophy in identical Negro twins.同卵黑人双胞胎中的婴儿进行性脊髓性肌萎缩症。
N Engl J Med. 1962 Aug 23;267:386-8. doi: 10.1056/NEJM196208232670804.
3
Familial progressive bulbar-spinal muscular atrophy.家族性进行性延髓-脊髓性肌萎缩症
SMA 型 2 和 3 的感觉功能障碍——适应机制还是伴随的损伤靶标？
Orphanet J Rare Dis. 2024 Sep 3;19(1):321. doi: 10.1186/s13023-024-03339-y.
4
Case Report: gene mutation causing neuronopathy, distal hereditary motor, type VIII.病例报告：导致VIII型远端遗传性运动神经元病的基因突变。
Front Pediatr. 2024 Mar 18;12:1327742. doi: 10.3389/fped.2024.1327742. eCollection 2024.
5
Motor fiber function in spinal muscular atrophy-analysis of conduction velocity distribution.脊髓性肌萎缩症中运动纤维功能——传导速度分布分析
Front Neurol. 2023 Dec 7;14:1305497. doi: 10.3389/fneur.2023.1305497. eCollection 2023.
6
Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment.脊髓性肌萎缩症：疾病修饰治疗时代功能性运动量表的应用
Child Neurol Open. 2021 Apr 27;8:2329048X211008725. doi: 10.1177/2329048X211008725. eCollection 2021 Jan-Dec.
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Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents.运动神经元疾病的模型系统作为研究致病机制和寻找治疗药物的平台。
Acta Naturae. 2015 Jan-Mar;7(1):19-36.
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J Comp Neurol. 2012 Jun 1;520(8):1737-50. doi: 10.1002/cne.23010.
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Pes cavus and hereditary neuropathies: when a relationship should be suspected.高弓足与遗传性周围神经病：当怀疑存在某种关系时。
J Orthop Traumatol. 2010 Dec;11(4):195-201. doi: 10.1007/s10195-010-0114-y. Epub 2010 Oct 21.
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Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.优势型脊髓性肌萎缩伴下肢优势：与 14q32 连锁。
Neurology. 2010 Aug 10;75(6):539-46. doi: 10.1212/WNL.0b013e3181ec800c.
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4
Neurogenic muscular atrophy simulating muscular dystrophy.模拟肌营养不良的神经源性肌肉萎缩
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5
Electrocardiographic patterns in the differential diagnosis of progressive muscular dystrophy.
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6
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7
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