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X-linked recessive ataxia相关文献:
The hereditary spastic paraplegias.
Fink JK.
Handb Clin Neurol. 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3.
PMID:37620092
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA.
Metabolism. 2018 Sep;86:124-134. doi: 10.1016/j.metabol.2017.10.012. Epub 2017 Nov 3.
PMID:29108899
Immunodeficiency.
Justiz Vaillant AA, Qurie A.
2023 Jun 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:29763203
X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.
Di Lazzaro G, Magrinelli F, Estevez-Fraga C, Valente EM, Pisani A, Bhatia KP.
Mov Disord. 2021 Jul;36(7):1511-1525. doi: 10.1002/mds.28565. Epub 2021 May 7.
PMID:33960519
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
Rudaks LI, Yeow D, Ng K, Deveson IW, Kennerson ML, Kumar KR.
Cerebellum. 2024 Oct;23(5):2152-2168. doi: 10.1007/s12311-024-01703-z. Epub 2024 May 18.
PMID:38760634
Pelizaeus-Merzbacher Disease.
Singh R, Samanta D.
2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:32809357
X-linked olivopontocerebellar atrophy.
Lutz R, Bodensteiner J, Schaefer B, Gay C.
Clin Genet. 1989 Jun;35(6):417-22. doi: 10.1111/j.1399-0004.1989.tb02966.x.
PMID:2661059
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E.
Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8.
PMID:29891079
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
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
Ganassi M, Zammit PS.
Eur J Transl Myol. 2022 Mar 18;32(1):10064. doi: 10.4081/ejtm.2022.10064.
PMID:35302338
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