Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism*-Reference-Cited by-同舟云学术

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Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism*

Published:2008-04-23 Issue:5 Volume:7 Page:426-434
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Neuhäuser Gerhard,Opitz John M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1975.tb00353.x/fullpdf

Reference44 articles.

1. Pallido-cerebello-olivary degeneration with eunuchoi-dism;Altschul;J. nerv. ment. Dis.,1956

2. Hypogonadotropic hypo-gonadism in patients with multiple congenital defects;Bardin;Birth Defects: Original Article Series,1971

3. A new familial syndrome with ataxia, hearing loss, and mental retardation;Berman;Arch. Neurol. (Chic.),1973

4. Sur un cas familial de dégénération spinockrkbel-leuse avec eunuchoidisrne hypogonadotro-phique;Bernard-Weil;Presse méd.,1962

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1. Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor;Journal of Neurosciences in Rural Practice;2024-07-19

2. Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia;Molecular Biology Reports;2024-04-29

3. Hypergonadotrophic Hypogonadism with Cerebellar Ataxia in a Twenty-Six-Year-Old Female: A Case Report;Open Journal of Modern Neurosurgery;2024

4. Gordon Holmes Syndrome Model Mice Exhibit Alterations in Microglia, Age, and Sex-Specific Disruptions in Cognitive and Proprioceptive Function;eneuro;2023-12-27

5. Autosomal Recessive Cerebellar Ataxias: New Acronyms, Old Eponyms, and the Butterfly Life Cycle;Movement Disorders Clinical Practice;2023-07-17

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