Page 158 - Read Online
P. 158
Guerra et al. J Transl Genet Genom 2019;3:9. I https://doi.org/10.20517/jtgg.2018.03 Page 25 of 31
Neurology. New York: McGraw-Hill Education Medical; 2014. Pp. 486-506.
12. Dysarthria in adults: overview - ASHA. Available from: https://www.asha.org/Practice-Portal/Clinical-Topics/Dysarthria-in-Adults/. [Last
accessed on 11 Jun 2019]
13. McDonald C. Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases. Phys Med Rehabil Clin N
Am 2012;23:495-563.
14. Alseth EH. Genetic associations in myasthenia gravis Implications for pathogenesis. PhD. University of Bergen; 2010.
15. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. OMIM Number: {254200}: {10/04/2013}.
Available from: http://www.ncbi.nlm.nih.gov/omim/. [Last accessed on 11 Jun 2019]
16. Zagoriti Z, Kambouris M, Patrinos G, Tzartos SJ, Poulas K. Recent advances in genetic predisposition of myasthenia gravis. Biomed Res
Int 2013;2013:1-12.
17. Sanders D. CS1.1 Seronegative and MuSK antibody-positive myasthenia gravis. Clin Neurophysiol 2006;117:1.
18. Beukelman D, Fager S, Nordness A. Communication support for people with ALS. Neurol Res Int 2011;2011:714693.
19. Lewis BA. 2006 Speech and language disorders associated with Prader-Willi syndrome. In: Butler MG, Lee PDK, Whitman BY, editors.
Management of Prader-Willi syndrome. 3rd ed. New York: Springer; 2006. pp. 272-83.
20. Bird TD. Hereditary Ataxia Overview. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1138/. [Last accessed on 10 Jun 2019]
21. Orr H, Zoghbi H. Trinucleotide repeat disorders. Annu Rev Neurosci 2007;30:575-621.
22. Brendel B, Synofzik M, Ackermann H, Lindig T, Schölderle T, et al. Comparing speech characteristics in spinocerebellar ataxias type 3 and
type 6 with Friedreich ataxia. J Neurol 2014;262:21-6.
23. Sidtis J, Ahn J, Gomez C, Sidtis D. Speech characteristics associated with three genotypes of ataxia. J Commun Disord 2011;44:478-92.
24. Gómez-Coello A, Valadez-Jiménez V, Cisneros B, Carrillo-Mora P, Parra-Cárdenas M, et al. Voice alterations in patients with
spinocerebellar ataxia type 7 (SCA7): Clinical-Genetic Correlations. J Voice 2017;31:123e1-5.
25. Brendel B, Ackermann H, Berg D, Lindig T, Schölderle T, et al. Friedreich ataxia: dysarthria profile and clinical data. Cerebellum
2013;12:475-84.
26. Hereditary spastic paraplegia overview - NCBI - NIH . Available from: https://www.ncbi.nlm.nih.gov/books/NBK1509/. [Last accessed on
11 Jun 2019]
27. Clinical Bulletin in Dysarthria. Available from: https://www.nationalmssociety.org/NationalMSSociety/media/MSNationalFiles/Brochures/
Clinical-Bulletin-Dysarthria.pdf. [Last accessed on 11 Jun 2019]
28. Feenaughty L, Tjaden K, Benedict R, Weinstock-Guttman B. Speech and pause characteristics in multiple sclerosis: a preliminary study of
speakers with high and low neuropsychological test performance. Clin Linguist Phon 2013;27:134-51.
29. Hartelius L, Runmarker B, Andersen O. Prevalence and characteristics of dysarthria in a multiple-sclerosis incidence cohort: relation to
neurological data. Folia Phoniatr Logop 2000;52:160-77.
30. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. OMIM Number: {126200}: {07/18/2018}.
Available from: http://www.ncbi.nlm.nih.gov/omim/. [Last accessed on 11 Jun 2019]
31. Hrastelj J, Robertson N. Genetics of disease severity in multiple sclerosis, Alzheimer’s disease, and Huntington’s disease: rejuvenating
genome-wide association studies. J Neurol 2017;264:2040-2.
32. González S, Rojas J, Redal M, Patrucco L, Correale J, et al. CD24 as a genetic modifier of disease progression in multiple sclerosis in
Argentinean patients. J Neurol Sci 2011;307:18-21.
33. Zhou Q, Rammohan K, Lin S, Robinson N, Li O, et al. CD24 is a genetic modifier for risk and progression of multiple sclerosis. Proc Nat
Acad Sci 2003;100:15041-6.
34. Sadovnick A, Traboulsee A, Zhao Y, Bernales CQ, Encarnacion M, et al. Genetic modifiers of multiple sclerosis progression, severity and
onset. Clin Immunol 2017;180:100-5.
35. Kroner A, Mehling M, Hemmer B, Rieckmann P, Toyka KV. A PD-1 polymorphism is associated with disease progression in multiple
sclerosis. Ann Neurol 2005;58:50-7.
36. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. OMIM Number: {163890}: {06/27/2018}.
Available from: http://www.ncbi.nlm.nih.gov/omim/. [Last accessed on 11 Jun 2019]
37. Diao J, Burré J, Vivona S, Cipriano DJ, Sharma M, et al. Native α-synuclein induces clustering of synaptic-vesicle mimics via binding to
phospholipids and synaptobrevin-2/VAMP2. Elife 2013;2.
38. Kelm-Nelson C, Yang K, Ciucci M. Exercise effects on early vocal ultrasonic communication dysfunction in a PINK1 knockout model of
Parkinson’s disease. J Parkinsons Dis 2015;5:749-63.
39. Grant L, Richter F, Miller J, White SA, Fox CM, et al. Vocalization deficits in mice over-expressing alpha-synuclein, a model of pre-
manifest Parkinson’s disease. Behav Neurosci 2014;128:110-21.
40. Creed R, Goldberg M. New developments in genetic rat models of Parkinson’s disease. Mov Disord 2018;33:717-29.
41. Pultorak J, Kelm-Nelson C, Holt L, Blue KV, Ciucci MR, et al. Decreased approach behavior and nucleus accumbens immediate early gene
expression in response to Parkinsonian ultrasonic vocalizations in rats. Soc Neurosci 2015;11:365-79.
42. Zheng Y, Pei Z, Liu Y, Zhou H, Xian W, et al. Cognitive impairments in LRRK2-related Parkinson’s disease: a study in Chinese Individuals.
Behav Neurol 2015;2015:1-5.
43. García A, Sedeño L, Trujillo N, Bocanegra Y, Gómez D, et al. Language deficits as a preclinical window into Parkinson’s disease: evidence
from asymptomatic parkin and dardarin mutation carriers. J Int Neuropsychol Soc 2017;23:150-8.
44. Tanner K, Roy N, Merrill R, Kimber K, Sauder C, et al. Risk and protective factors for spasmodic dysphonia: a case-control investigation. J
Voice 2011;25:e35-46.