Page 160 - Read Online

Guerra et al. J Transl Genet Genom 2019;3:9. I https://doi.org/10.20517/jtgg.2018.03 Page 27 of 31

78. Rosenbek JC, Wertz RT, LaPointe LL. Apraxia of speech in adults: the disorder and its management. Grune & Stratton, New York; 1984.
79. Graham S, Fisher S. Understanding language from a genomic perspective. Annu Rev Genet 2015;49:131-60.
80. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP. A forkhead-domain gene is mutated in a severe speech and language disorder.
Nature 2001;413:519-23.
81. Bacon C, Rappold G. The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders. Hum Genet
2012;131:1687-98.
82. Oswald F, Klöble P, Ruland A, Rosenkranz D, Hinz B, et al. The FOXP2-driven network in developmental disorders and neurodegeneration.
Front Cell Neurosci 2017;11:212.
83. Becker M, Devanna P, Fisher S, Vernes SC. Mapping of human FOXP2 enhancers reveals complex regulation. Front Mol Neurosci.
2018;11:47.
84. Liégeois F, Hildebrand M, Bonthrone A, Turner SJ, Scheffer IE, et al. Early neuroimaging markers of FOXP2 intragenic deletion. Sci Rep
2016;6:35192.
85. Morgan A, Fisher SE, Scheffer I, Hildebrand M. FOXP2-related speech and language disorders. 2016 Jun 23 [Updated 2017 Feb 2].
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of
Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK368474/. [Last accessed on 11 Jun 2019]
86. Hamdan F, Daoud H, Rochefort D, Piton A, Gauthier J, et al. De novo mutations in FOXP1 in cases with intellectual disability, autism, and
language impairment. Am J Hum Genet 2010;87:671-8.
87. Le Fevre A, Taylor S, Malek N, Horn D, Carr CW, et al. FOXP1 mutations cause intellectual disability and a recognizable phenotype. Am J
Med Genet Part A 2013;161:3166-75.
88. Peter B, Wijsman EM, Nato AQ, Matsushita MM, Chapman KL, et al. Genetic Candidate variants in two multigenerational families with
childhood apraxia of speech. PLoS One 2016;11:e0153864.
89. Eising E, Carrion-Castillo A, Vino A, Strand EA, Jakielski KJ, et al. A set of regulatory genes co-expressed in embryonic human brain is
implicated in disrupted speech development. Mol Psychiatry 2018; doi: 10.1038/s41380-018-0020-x.
90. Worthey E, Raca G, Laffin J, Wilk BM, Harris JM, et al. Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of
speech. J Neurodev Disord 2013;5:29.
91. Thevenon J, Callier P, Andrieux J, Delobel B, David A, et al. 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with
childhood apraxia of speech. Eur J Hum Genet 2012;21:82-8.
92. Laffin J, Raca G, Jackson C, Strand EA, Jakielski KJ, et al. Novel candidate genes and regions for childhood apraxia of speech identified by
array comparative genomic hybridization. Genet Med 2012;14:928-36.
93. Newbury D, Mari F, Sadighi-Akha E, Macdermot KD, Canitano R, et al. Dual copy number variants involving 16p11 and 6q22 in a case of
childhood apraxia of speech and pervasive developmental disorder. Eur J Hum Genet 2012;21:361-5.
94. Bauman-Wängler J. Articulatory and phonological impairments: a clinical focus. 2nd ed. Boston: Allyn and Bacon; 2004.
95. Hayiou-Thomas M, Carroll J, Leavett R, Hulme C, Snowling MJ. When does speech sound disorder matter for literacy? The role of
disordered speech errors, co-occurring language impairment and family risk of dyslexia. J Child Psychol Psychiatry 2016;58:197-205.
96. Eicher J, Stein C, Deng F, Ciesla AA, Powers NR, et al. The DYX2 locus and neurochemical signaling genes contribute to speech sound
disorder and related neurocognitive domains. Genes Brain Behav 2015;14:377-85.
97. Nopola-Hemmi J, Myllyluoma B, Haltia T, Taipale M, Ollikainen V, et al. A dominant gene for developmental dyslexia on chromosome 3. J
Med. Genet 2001;38:658-64.
98. Kraft S, De Thorne L. The brave new world of epigenetics: embracing complexity in the study of speech and language disorders. Curr Dev
Disord Rep 2014;1:207-14.
99. Anthoni H, Sucheston LE, Lewis BA, Tapia-Páez I, Fan X, et al. The aromatase Gene CYP19A1: several genetic and functional lines of
evidence supporting a role in reading, speech and language. Behav Gen 2012;42:509-27.
100. Panjwani N, Wilson MD, Addis L, Crosbie J, Wirrell E, et al. A microRNA-328 binding site in PAX6 is associated with centrotemporal
spikes of rolandic epilepsy. Ann Clin Transl Neurol 2016;3:512-22.
101. Tang-Wai D, Graham N. Assessment of language function in dementia. Available from: https://www.medscape.com/viewarticle/573859_4.
[Last accessed on 11 Jun 2019]
102. Tai L, Thomas R, Marottoli F, Koster KP, Kanekiyo T, et al. The role of APOE in cerebrovascular dysfunction. Acta Neuropathol
2016;131:709-23.
103. Kim J, Basak J, Holtzman D. The role of apolipoprotein E in Alzheimer’s disease. Neuron 2009;63:287-303.
104. Cacace R, Sleegers K, Van-Broeckhoven C. Molecular genetics of early-onset Alzheimer’s disease revisited. Alzheimers Dement
2016;12:733-48.
105. Mez J, Cosentino S, Brickman A, Huey ED, Mayeux R. Different demographic, genetic, and longitudinal traits in language versus memory
Alzheimer’s subgroups. J Alzheimers Dis 2013;37:137-46.
106. Premi E, Pilotto A, Alberici A, Papetti A, Archetti S, et al. FOXP2, APOE, and PRNP: new modulators in primary progressive aphasia. J
Alzheimers Dis 2012;28:941-50.
107. Daniele A, Matera M, Seripa D, Acciarri A, Bizzarro A, et al. APOE ε2/ε4 genotype a risk factor for primary progressive aphasia in women.
Arch Neurol 2009;66:910-2.
108. Seripa D, Bizzarro A, Pilotto A, Palmieri O, Panza F, et al. TOMM40, APOE, and APOC1 in primary progressive aphasia and
frontotemporal dementia. J Alzheimers Dis 2012;31:731-40.
109. Deters K, Nho K, Risacher S, Kim S, Ramanan VK, et al. Genome-wide association study of language performance in Alzheimer’s disease.