Adult onset spinal muscular atrophy with atrophic testes: report of two cases.
作者信息
Richert J R, Antel J P, Canary J J, Maxted W C, Groothuis D
出版信息
J Neurol Neurosurg Psychiatry. 1986 May;49(5):606-8. doi: 10.1136/jnnp.49.5.606-a.
Abstract
摘要
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Adult onset spinal muscular atrophy with atrophic testes: report of two cases.成人起病型脊髓性肌萎缩症伴睾丸萎缩：两例报告。
J Neurol Neurosurg Psychiatry. 1986 May;49(5):606-8. doi: 10.1136/jnnp.49.5.606-a.
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[Associated signs and laboratory findings in bulbar spinal muscular atrophy in adult (author's transl)].
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A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure.一个患有成人脊髓和延髓性肌萎缩症、X连锁遗传并伴有睾丸功能衰竭的家族。
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[Oculopharyngeal involvement in neurogenic muscular atrophy].[眼咽肌受累于神经源性肌肉萎缩]
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Chronic spinal muscular atrophy in adults. 2. Other forms.
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[Huntington's chorea and chronic-progressive spinal muscular atrophy].
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Spinal muscular atrophy is also a disorder of spermatogenesis.脊髓性肌萎缩症也是一种精子发生障碍。
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Systemic nature of spinal muscular atrophy revealed by studying insurance claims.通过研究保险索赔揭示了脊髓性肌萎缩症的系统性本质。
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SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities.脊髓性肌萎缩症中SMN的调控及对应激的反应：新范式与治疗可能性
Hum Genet. 2017 Sep;136(9):1173-1191. doi: 10.1007/s00439-017-1835-2. Epub 2017 Aug 29.
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Gender-Specific Amelioration of SMA Phenotype upon Disruption of a Deep Intronic Structure by an Oligonucleotide.通过寡核苷酸破坏内含子深处结构后，脊髓性肌萎缩症表型的性别特异性改善
Mol Ther. 2017 Jun 7;25(6):1328-1341. doi: 10.1016/j.ymthe.2017.03.036. Epub 2017 Apr 13.
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Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy.在低SMN表达的脊髓性肌萎缩症小鼠模型中雄性生殖器官发育的严重受损
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本文引用的文献
1
Amyotrophic lateral sclerosis.肌萎缩侧索硬化症
J Nerv Ment Dis. 1950 Jan;111(1):1-18. doi: 10.1097/00005053-195011110-00001.
2
Familial progressive bulbar-spinal muscular atrophy.家族性进行性延髓-脊髓性肌萎缩症
Neurology. 1960 Mar;10:295-305. doi: 10.1212/wnl.10.3.295.
3
A syndrome clinically resembling amyotrophic lateral sclerosis following chronic mercurialism.慢性汞中毒后临床上类似肌萎缩侧索硬化症的一种综合征。
Neurology. 1961 Jul;11:639-44. doi: 10.1212/wnl.11.7.639.
4
Hereditary proximal spinal and bulbar motor neuron disease of late onset. A report of six cases.迟发性遗传性近端脊髓和延髓运动神经元病。6例报告。
Arch Neurol. 1982 Feb;39(2):112-6. doi: 10.1001/archneur.1982.00510140046012.
5
Late progressive muscular atrophy and antecedent poliomyelitis.迟发性进行性肌肉萎缩与既往脊髓灰质炎病史。
Adv Neurol. 1982;36:303-9.
6
Chronic asymmetrical spinal muscular atrophy.慢性非对称性脊髓性肌萎缩症
J Neurol Sci. 1983 Apr;59(1):69-83. doi: 10.1016/0022-510x(83)90082-5.
7
X-linked adult form of spinal muscular atrophy.X连锁成人型脊髓性肌萎缩症
J Neurol. 1983;229(3):175-88. doi: 10.1007/BF00313741.
8
Motor neurone disease as a manifestation of neoplasm (with a note on the course of classical motor neurone disease).作为肿瘤表现形式的运动神经元病（附关于经典运动神经元病病程的说明）
Brain. 1965 Sep;88(3):479-500. doi: 10.1093/brain/88.3.479.
9
A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity.成人起病型脊髓性肌萎缩症的临床与遗传学研究：常染色体隐性遗传型作为一种独立的疾病实体
Brain. 1978 Dec;101(4):591-606. doi: 10.1093/brain/101.4.591.
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