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Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.
Westenberger A, Ruiz-Herrera A, Bozdoğan S, Bisgin A, Almuqbil M, Alhashem A, Alanzi T, Romito A, Rolfs A, Dias P, Gouveia Silva R, Bertoli-Avella AM, Bauer P, Beetz C. Westenberger A, et al. Among authors: beetz c. Mov Disord. 2023 Mar;38(3):502-504. doi: 10.1002/mds.29323. Epub 2023 Feb 13. Mov Disord. 2023. PMID: 36781603 No abstract available.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium; Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H. Pagnamenta AT, et al. Among authors: beetz c. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. Brain. 2021. PMID: 33559681 Free PMC article.
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
Sánchez-Ferrero E, Coto E, Beetz C, Gámez J, Corao AI, Díaz M, Esteban J, del Castillo E, Moris G, Infante J, Menéndez M, Pascual-Pascual SI, López de Munaín A, Garcia-Barcina MJ, Alvarez V; Genetics of Spastic Paraplegia study group. Sánchez-Ferrero E, et al. Among authors: beetz c. Clin Genet. 2013 Mar;83(3):257-62. doi: 10.1111/j.1399-0004.2012.01896.x. Epub 2012 May 21. Clin Genet. 2013. PMID: 22571692
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H. Vona B, et al. Among authors: beetz c. Hum Genet. 2021 Jun;140(6):915-931. doi: 10.1007/s00439-020-02254-z. Epub 2021 Jan 26. Hum Genet. 2021. PMID: 33496845 Free PMC article.
149 results