特罗耶综合征。一种伴有远端肌肉萎缩的隐性痉挛性截瘫形式。 - Suppr

The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting.

作者信息

Cross H E, McKusick V A

出版信息

Arch Neurol. 1967 May;16(5):473-85. doi: 10.1001/archneur.1967.00470230025003.

DOI:10.1001/archneur.1967.00470230025003

PMID:6022528

Abstract

摘要

相似文献

The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting.

Arch Neurol. 1967 May;16(5):473-85. doi: 10.1001/archneur.1967.00470230025003.

Troyer syndrome: a recessively inherited form of spastic paraplegia with distal muscle wasting.

Birth Defects Orig Artic Ser. 1971 Feb;7(1):211-3.

Familial spastic paraplegia with amyotrophy of the hands.

Ann Hum Genet. 1966 Jul;30(1):69-75. doi: 10.1111/j.1469-1809.1966.tb00007.x.

Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome.

Clin Genet. 1976 Mar;9(3):315-23. doi: 10.1111/j.1399-0004.1976.tb01580.x.

[Hereditary spastic paraplegia associated with peroneal muscular atrophy].

Med Clin (Barc). 1982 Apr 16;78(8):329-31.

Familial spastic paraplegia.

Proc Aust Assoc Neurol. 1973;10(0):31-3.

Hereditary spastic paraplegia in Western Norway.

Clin Genet. 1974;6(3):165-83. doi: 10.1111/j.1399-0004.1974.tb00647.x.

[Differential diagnosis of hereditary spastic spinal paralysis. Simultaneously a report on genetically independent type of recessive hereditary infantile spastic spinal paralysis].

Nervenarzt. 1976 Nov;47(11):661-8.

Two distinct types of autosomal dominant spastic paraplegia.

Birth Defects Orig Artic Ser. 1971 Feb;7(1):216-8.

Recessively inherited 'pure' spastic paraplegia: case study.

Clin Neurol Neurosurg. 1982;84(4):247-53. doi: 10.1016/0303-8467(82)90026-9.

引用本文的文献

Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases.

Neurogenetics. 2025 Aug 9;26(1):58. doi: 10.1007/s10048-025-00841-8.

Spastic paraplegia with short stature: Think of Troyer syndrome.

Acta Neurol Belg. 2025 Aug;125(4):1113-1115. doi: 10.1007/s13760-025-02810-2. Epub 2025 May 17.

Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.

Neurol Genet. 2025 Feb 28;11(2):e200250. doi: 10.1212/NXG.0000000000200250. eCollection 2025 Apr.

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.

Open Biol. 2023 Jul;13(7):230040. doi: 10.1098/rsob.230040. Epub 2023 Jul 12.

Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39.

J Neurol. 2022 Dec;269(12):6476-6482. doi: 10.1007/s00415-022-11313-6. Epub 2022 Aug 10.

13q Deletion Syndrome Involving : Characterization of a New Minimal Critical Region for Psychomotor Delay.

Genes (Basel). 2021 Aug 26;12(9):1318. doi: 10.3390/genes12091318.

Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons.

Int J Mol Sci. 2019 Aug 7;20(16):3848. doi: 10.3390/ijms20163848.

The role of TGF-β superfamily signaling in neurological disorders.

Acta Biochim Biophys Sin (Shanghai). 2018 Jan 1;50(1):106-120. doi: 10.1093/abbs/gmx124.

Novel SPG20 mutation in an extended family with Troyer syndrome.

Metab Brain Dis. 2017 Dec;32(6):2155-2159. doi: 10.1007/s11011-017-0104-3. Epub 2017 Sep 5.

mutation in three siblings with familial hereditary spastic paraplegia.

Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). doi: 10.1101/mcs.a001537. Print 2017 Jul.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献