Drayna D - Search Results

1

Linking Lysosomal Enzyme Targeting Genes and Energy Metabolism with Altered Gray Matter Volume in Children with Persistent Stuttering.

Chow HM, Garnett EO, Li H, Etchell A, Sepulcre J, Drayna D, Chugani D, Chang SE. Chow HM, et al. Among authors: drayna d. Neurobiol Lang (Camb). 2020 Aug;1(3):365-380. doi: 10.1162/nol_a_00017. Epub 2020 Aug 1. Neurobiol Lang (Camb). 2020. PMID: 34041495 Free PMC article.

2

Neuroanatomical anomalies associated with rare AP4E1 mutations in people who stutter.

Chow HM, Li H, Liu S, Frigerio-Domingues C, Drayna D. Chow HM, et al. Among authors: drayna d. Brain Commun. 2021 Nov 13;3(4):fcab266. doi: 10.1093/braincomms/fcab266. eCollection 2021. Brain Commun. 2021. PMID: 34859215 Free PMC article.

3

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.

Raza MH, Domingues CE, Webster R, Sainz E, Paris E, Rahn R, Gutierrez J, Chow HM, Mundorff J, Kang CS, Riaz N, Basra MA, Khan S, Riazuddin S, Moretti-Ferreira D, Braun A, Drayna D. Raza MH, et al. Among authors: drayna d. Eur J Hum Genet. 2016 Apr;24(4):529-34. doi: 10.1038/ejhg.2015.154. Epub 2015 Jul 1. Eur J Hum Genet. 2016. PMID: 26130485 Free PMC article.

4

A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.

Han TU, Park J, Domingues CF, Moretti-Ferreira D, Paris E, Sainz E, Gutierrez J, Drayna D. Han TU, et al. Among authors: drayna d. Neurobiol Dis. 2014 Sep;69:23-31. doi: 10.1016/j.nbd.2014.04.019. Epub 2014 May 5. Neurobiol Dis. 2014. PMID: 24807205 Free PMC article.

5

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D. Kang C, et al. Among authors: drayna d. N Engl J Med. 2010 Feb 25;362(8):677-85. doi: 10.1056/NEJMoa0902630. Epub 2010 Feb 10. N Engl J Med. 2010. PMID: 20147709 Free PMC article.

6

A role for inherited metabolic deficits in persistent developmental stuttering.

Kang C, Drayna D. Kang C, et al. Among authors: drayna d. Mol Genet Metab. 2012 Nov;107(3):276-80. doi: 10.1016/j.ymgme.2012.07.020. Epub 2012 Jul 28. Mol Genet Metab. 2012. PMID: 22884963 Free PMC article. Review.

7

Genetic contributions to stuttering: the current evidence.

Frigerio-Domingues C, Drayna D. Frigerio-Domingues C, et al. Among authors: drayna d. Mol Genet Genomic Med. 2017 Feb 19;5(2):95-102. doi: 10.1002/mgg3.276. eCollection 2017 Mar. Mol Genet Genomic Med. 2017. PMID: 28361094 Free PMC article.

8

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation.

Fedyna A, Drayna D, Kang C. Fedyna A, et al. Among authors: drayna d. J Hum Genet. 2011 Jan;56(1):80-2. doi: 10.1038/jhg.2010.125. Epub 2010 Oct 14. J Hum Genet. 2011. PMID: 20944643 Free PMC article.

9

Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33.

Raza MH, Riazuddin S, Drayna D. Raza MH, et al. Among authors: drayna d. Hum Genet. 2010 Oct;128(4):461-3. doi: 10.1007/s00439-010-0871-y. Epub 2010 Aug 13. Hum Genet. 2010. PMID: 20706738 Free PMC article.

10

Genetic factors and therapy outcomes in persistent developmental stuttering.

Frigerio-Domingues CE, Gkalitsiou Z, Zezinka A, Sainz E, Gutierrez J, Byrd C, Webster R, Drayna D. Frigerio-Domingues CE, et al. Among authors: drayna d. J Commun Disord. 2019 Jul-Aug;80:11-17. doi: 10.1016/j.jcomdis.2019.03.007. Epub 2019 Apr 5. J Commun Disord. 2019. PMID: 31003007

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