Whole-Exome Sequencing Study of Consanguineous Parkinson’s Disease Families and Related Phenotypes: Report of Twelve Novel Variants-Reference-Cited by-同舟云学术

Whole-Exome Sequencing Study of Consanguineous Parkinson’s Disease Families and Related Phenotypes: Report of Twelve Novel Variants

Published:2022-12 Issue:12 Volume:72 Page:2486-2496
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Soudyab Mohammad,Shariati Mohammad,Esfehani Reza Jafarzadeh,Shalaei Neda,Vafadar Shabnam,Nouri Vahid,Zech Michael,Winkelmann Julianne,Shoeibi Ali,Sadr-Nabavi Ariane

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s12031-022-02085-9.pdf

Reference62 articles.

1. Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 76:7.20.21-27.20.41

2. Andreeva A, Bekkhozhin Z, Omertassova N, Baizhumanov T, Yeltay G, Akhmetali M, Toibazar D, Utepbergenov D (2019) The apparent deglycase activity of DJ-1 results from the conversion of free methylglyoxal present in fast equilibrium with hemithioacetals and hemiaminals. J Biol Chem 294:18863–18872

3. Bittles AH (2010) Consanguinity, genetic drift, and genetic diseases in populations with reduced numbers of founders In Vogel and Motulsky’s human genetics, Springer, pp. 507–528

4. Boeve BF, Molano JR, Ferman TJ, Smith GE, Lin S-C, Bieniek K, Haidar W, Tippmann-Peikert M, Knopman DS, Graff-Radford NR (2011) Validation of the Mayo Sleep Questionnaire to screen for REM sleep behavior disorder in an aging and dementia cohort. Sleep Med 12:445–453

5. Bonifati V, Dekker MC, Vanacore N, Fabbrini G, Squitieri F, Marconi R, Antonini A, Brustenghi P, Dalla Libera A, De Mari M, Stocchi F, Montagna P, Gallai V, Rizzu P, van Swieten JC, Oostra B, van Duijn CM, Meco G, Heutink P (2002) Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7. Neurol Sci 23(Suppl 2):S59-60