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1.	Braisch, U, et al. (author) Identification of symbol digit modality test score extremes in Huntington's disease 2019 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. - : Wiley. - 1552-485X .- 1552-4841. ; 180:3, s. 232-245 Journal article (peer-reviewed)
2.	Vollstedt, EJ, et al. (author) Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 2023 In: Movement disorders : official journal of the Movement Disorder Society. - 1531-8257. ; 38:2, s. 286-303 Journal article (peer-reviewed)
3.	Vollstedt, EJ, et al. (author) Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 2023 In: Movement disorders : official journal of the Movement Disorder Society. - : Wiley. - 1531-8257 .- 0885-3185. ; 38:2, s. 286-303 Journal article (peer-reviewed)
4.	Vollstedt, EJ, et al. (author) Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project 2023 In: PloS one. - 1932-6203. ; 18:10, s. e0292180- Journal article (peer-reviewed)
5.	Almutawa, W, et al. (author) The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy 2019 In: EBioMedicine. - : Elsevier BV. - 2352-3964. ; 45, s. 379-392 Journal article (peer-reviewed)
6.	Djoussé, L, et al. (author) Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. 2003 In: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 119A:3, s. 279-82 Journal article (peer-reviewed)abstract Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have shown that the size of expanded CAG repeat is inversely associated with age at onset (AO) of HD. It is not known whether the normal Huntington allele size influences the relation between the expanded repeat and AO of HD. Data collected from two independent cohorts were used to test the hypothesis that the unexpanded CAG repeat interacts with the expanded CAG repeat to influence AO of HD. In the New England Huntington Disease Center Without Walls (NEHD) cohort of 221 HD affected persons and in the HD-MAPS cohort of 533 HD affected persons, we found evidence supporting an interaction between the expanded and unexpanded CAG repeat sizes which influences AO of HD (P = 0.08 and 0.07, respectively). The association was statistically significant when both cohorts were combined (P = 0.012). The estimated heritability of the AO residual was 0.56 after adjustment for normal and expanded repeats and their interaction. An analysis of tertiles of repeats sizes revealed that the effect of the normal allele is seen among persons with large HD repeat sizes (47-83). These findings suggest that an increase in the size of the normal repeat may mitigate the expression of the disease among HD affected persons with large expanded CAG repeats.

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Type of publication: journal article (6)

Type of content: peer-reviewed (6)

Author/Editor: Suchowersky, O (6); Mir, P (4); Jankovic, J (4); Marder, K (3); Carr, J. (3); De Rosa, A. (3); show more...; Klein, C. (3); Belin, AC (3); Hentati, F (3); Foroud, T (3); Clarimón, J. (3); Padmanabhan, S. (3); Alvarez, V (3); Klivenyi, P (3); Puschmann, A. (3); Skorvanek, M (3); Winkelmann, J (3); Lim, SY (3); Das, P. (3); Ferreira, JJ (3); Guedes, LC (3); Brockmann, K. (3); Corvol, JC (3); Lin, CH (3); Lang, AE (3); Valente, EM (3); Thaler, A (3); Lohmann, K (3); Gómez-Garre, P. (3); Zimprich, A (3); Brighina, L (3); Annesi, G (3); Hattori, N (3); van de Warrenburg, B (3); Merello, M. (3); Giladi, N (3); Petersen, MS (3); Wu, RM (3); Williams-Gray, CH (3); Zhang, BR (3); Damasio, J (3); Crosiers, D (3); Spitz, M (3); Vollstedt, EJ (3); Cornejo-Olivas, M (3); Pulkes, T (3); Termsarasab, P (3); Dorszewska, J (3); Ferese, R (3); Ahmad-Annuar, A (3); show less...

University: Karolinska Institutet (5); Lund University (2); Uppsala University (1); Marie Cederschiöld högskola (1)

Language: English (6)

Research subject (UKÄ/SCB): Medical and Health Sciences (4); Natural sciences (1)

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