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Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F. Bohlega S, et al. Among authors: al semari a. Parkinsonism Relat Disord. 2019 Dec;69:99-103. doi: 10.1016/j.parkreldis.2019.10.007. Epub 2019 Oct 13. Parkinsonism Relat Disord. 2019. PMID: 31726291
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Alazami AM, et al. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026396 Free PMC article.
Hypogonadism and neurological diseases.
Alsemari A. Alsemari A. Neurol Sci. 2013 May;34(5):629-38. doi: 10.1007/s10072-012-1278-4. Epub 2013 Jan 5. Neurol Sci. 2013. PMID: 23292617 Review.
34 results