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congenital hypermyotonia相关文献:
MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.
Levin BL, Varga E.
J Genet Couns. 2016 Oct;25(5):901-11. doi: 10.1007/s10897-016-9956-7. Epub 2016 Apr 30.
PMID:27130656
Congenital familial hypertonia.
DeLuca CF, Cashore WJ.
Clin Pediatr (Phila). 2002 Sep;41(7):529-32. doi: 10.1177/000992280204100713.
PMID:12365318
Genetic cerebellar ataxias.
Storey E.
Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5.
PMID:25192506
Congenital stiff-man syndrome.
Sander JE, Layzer RB, Goldsobel AB.
Ann Neurol. 1980 Aug;8(2):195-7. doi: 10.1002/ana.410080212.
PMID:7425575
[Surgical procedures for treatment of spasticity].
Hurth H, Morgalla M, Heinzel J, Daigeler A, Kolbenschlag J, Schuhmann M.
Nervenarzt. 2023 Dec;94(12):1116-1122. doi: 10.1007/s00115-023-01568-3. Epub 2023 Nov 13.
PMID:37955654
Sacsinopathies: sacsin-related ataxia.
Takiyama Y.
Cerebellum. 2007;6(4):353-9. doi: 10.1080/14734220701230466. Epub 2007 Feb 28.
PMID:17853117
Congenital and acquired brain injury. 2. Brain injury rehabilitation: medical management.
Burnett DM, Watanabe TK, Greenwald BD.
Arch Phys Med Rehabil. 2003 Mar;84(3 Suppl 1):S8-11. doi: 10.1053/apmr.2003.50046.
PMID:12708552
A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report.
Zhou L, Yang Q.
Neurocase. 2022 Aug;28(4):388-392. doi: 10.1080/13554794.2022.2132870. Epub 2022 Oct 11.
PMID:36219783
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.
Wang M, Yang H, Lin Z, Li X, Liu L, Huang S, Zhao H, Zhu X, Xiao Q, Duan R, Wang J, Zuchner S, Tang B, Zhang R.
J Neurol. 2023 Oct;270(10):4959-4967. doi: 10.1007/s00415-023-11821-z. Epub 2023 Jun 26.
PMID:37365282
Silver syndrome.
Silver JR.
BMJ. 2007 Sep 1;335(7617):422-3. doi: 10.1136/bmj.39210.408414.AD.
PMID:17762032
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