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juvenile hereditary spinal ataxia相关文献:
Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration.
Bennett CL, La Spada AR.
Adv Neurobiol. 2018;20:265-281. doi: 10.1007/978-3-319-89689-2_10.
PMID:29916023
Genetic disorders affecting proteins of iron metabolism: clinical implications.
Sheth S, Brittenham GM.
Annu Rev Med. 2000;51:443-64. doi: 10.1146/annurev.med.51.1.443.
PMID:10774476
The neuropathology of late-onset Friedreich's ataxia.
Koeppen AH, Morral JA, McComb RD, Feustel PJ.
Cerebellum. 2011 Mar;10(1):96-103. doi: 10.1007/s12311-010-0235-0.
PMID:21128039
[What is the role of the genetic survey in amyotrophic lateral sclerosis?].
Camu W.
Rev Neurol (Paris). 2006 Jun;162 Spec No 2:4S91-4S95.
PMID:17128094
Genetics of movement disorders: an abbreviated overview.
Thyagarajan D.
Stereotact Funct Neurosurg. 2001;77(1-4):48-60. doi: 10.1159/000064597.
PMID:12378057
Lessons for clinical trial design in Friedreich's ataxia.
Savelieff MG, Feldman EL.
Lancet Neurol. 2021 May;20(5):330-332. doi: 10.1016/S1474-4422(21)00064-8. Epub 2021 Mar 23.
PMID:33770529
Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.
Li J, Tang S, Li J, Huang X, Liu Y, Zeng J, Fan Y.
Orphanet J Rare Dis. 2025 Apr 8;20(1):163. doi: 10.1186/s13023-025-03704-5.
PMID:40200352
Case of Early Friedreich's Ataxia (Shown for Comparison with the Case of Juvenile Tabes Dorsalis.
Worster-Drought C.
Proc R Soc Med. 1924;17(Sect Study Dis Child):19. doi: 10.1177/003591572401702112.
PMID:19984064
The clinical spectrum of hexosaminidase deficiency diseases.
Johnson WG.
Neurology. 1981 Nov;31(11):1453-6. doi: 10.1212/wnl.31.11.1453.
PMID:7198192
Deficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegeneration.
Balastik M, Ferraguti F, Pires-da Silva A, Lee TH, Alvarez-Bolado G, Lu KP, Gruss P.
Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):12016-21. doi: 10.1073/pnas.0802261105. Epub 2008 Aug 7.
PMID:18687884
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