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cerebellar ataxia-hypogonadism相关文献:
Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association.
Erdem E, Kiratli H, Erbaş T, Varli K, Eldem B, Akalin S, Tan E, Topaloglu H, Gedikoglu G.
Clin Neurol Neurosurg. 1994 Feb;96(1):86-91. doi: 10.1016/0303-8467(94)90036-1.
PMID:8187389
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism.
Neuhäuser G, Opitz JM.
Clin Genet. 1975 May-Jun;7(5):426-34. doi: 10.1111/j.1399-0004.1975.tb00353.x.
PMID:1149314
Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian family.
Rizzi R, Carelli V, Monari L, Mochi M, Liguori R, Sensi M, Cocozza S, Filla A, Montagna P.
Ital J Neurol Sci. 1998 Feb;19(1):41-4. doi: 10.1007/BF03028811.
PMID:10935859
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
Liampas A, Nicolaou P, Votsi C, Georghiou A, Christodoulou K, Tanteles GA, Pantzaris M.
Mol Biol Rep. 2024 Apr 29;51(1):590. doi: 10.1007/s11033-024-09515-4.
PMID:38683245
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
Emekli AS, Samanci B, Şimşir G, Hanagasi HA, Gürvit H, Bilgiç B, Başak AN.
Neurol Sci. 2021 Apr;42(4):1535-1539. doi: 10.1007/s10072-020-04869-6. Epub 2020 Nov 18.
PMID:33210227
Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.
Langdahl JH, Frederiksen AL, Nguyen N, Brusgaard K, Juhl CB.
Eur J Med Genet. 2017 Feb;60(2):105-109. doi: 10.1016/j.ejmg.2016.11.003. Epub 2016 Nov 16.
PMID:27866050
Multiple pituitary hormone deficiencies in a patient with spinocerebellar ataxia: magnetic resonance imaging and hormonal studies.
Bhatia E, Shukla R, Gupta RK, Misra UK.
J Endocrinol Invest. 1993 Sep;16(8):639-42. doi: 10.1007/BF03347686.
PMID:8258653
Prominent expression of spinocerebellar ataxia type-1 (SCA1) gene encoding ataxin-1 in LH-producing cells, LbetaT2.
Ogawa S, Aikawa S, Kato T, Tomizawa K, Tsukamura H, Maeda K, Petric N, Elsaesser F, Kato Y.
J Reprod Dev. 2004 Oct;50(5):557-63. doi: 10.1262/jrd.50.557.
PMID:15514462
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