Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders (S42.004)

Autor: Saeed Bohlega, Zainah Al-Qahtani, Francisco J. Guzmán-Vega, Reshmi Ramakrishnan, Ali Abusrair, Haya Aldosari, Amaal AlDakheel, Salma Al-Qahtani, Dorota Monies, Stefan Arold

Publikováno v: Wednesday, April 26.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::940fc26bfadd620f7ca6d69501f1004a
https://doi.org/10.1212/wnl.0000000000203263

Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders

Autor: Saeed Bohlega, Ali H. Abusrair, Zainah Al-Qahtani, Francisco J. Guzmán-Vega, Reshmi Ramakrishnan, Haya Aldosari, Amaal Aldakheel, Salma Al-Qahtani, Dorota Monies, Stefan T. Arold

Publikováno v: Parkinsonism & Related Disorders. 108:105323

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dd575a88c5a70a2ede3f6d1310433edb
https://doi.org/10.1016/j.parkreldis.2023.105323

Heart rate variability in leucine-rich repeat kinase 2-associated Parkinson's disease

Autor: Ekaterina Rogaeva, Amaal AlDakheel, Carmen Gasca-Salas, Barbara S. Connolly, Farah Kausar, Sam Woong Kim, Caroline M. Tanner, Naomi P. Visanji, Kaviraj Udupa, Connie Marras, Birgitt Schüle, Achinoam Faust-Socher, Anthony E. Lang, Drew S. Kern, Samuel M. Goldman, Ruksana Azhu Valappil, Jennifer Jain, J. William Langston, Tiago A. Mestre, Grace S. Bhudhikanok, Elizabeth Slow, Taneera Ghate

Publikováno v: Movement Disorders. 32:610-614

Background Heart rate variability is reduced in idiopathic PD, indicating cardiac autonomic dysfunction likely resulting from peripheral autonomic synucleinopathy. Little is known about heart rate variability in leucine-rich repeat kinase 2-associate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3a265d789373ce888e441bca0a2b0cac
https://doi.org/10.1002/mds.26896

Investigating voice as a biomarker for leucine-rich repeat kinase 2-associated Parkinson’s disease

Autor: Elizabeth Slow, Amaal AlDakheel, Drew S. Kern, Max A. Little, Carmen Gasca-Salas, Barbara S. Connolly, Naomi P. Visanji, Jennifer Jain, Athanasios Tsanas, Tiago A. Mestre, Siddharth Arora, Achinoam Faust-Socher, Anthony E. Lang, Connie Marras

Publikováno v: Arora, S, Visanji, N P, Mestre, T A, Tsanas, A, AlDakheel, A, Connolly, B S, Gasca-Salas, C, Kern, D S, Jain, J, Slow, E J, Faust-Socher, A, Lang, A E, Little, M A & Marras, C 2018, ' Investigating Voice as a Biomarker for Leucine-Rich Repeat Kinase 2-Associated Parkinson's Disease ', Journal of Parkinson's disease . https://doi.org/10.3233/JPD-181389

We investigate the potential association between leucine-rich repeat kinase 2 (LRRK2) mutations and voice. Sustained phonations ('aaah' sounds) were recorded from 7 individuals with LRRK2-associated Parkinson's disease (PD), 17 participants with idio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f53f231d8d889590a53408b5994bc2e
http://ora.ox.ac.uk/objects/uuid:

Actigraphy Detects Greater Intra-Individual Variability During Gait in Non-Manifesting LRRK2 Mutation Carriers

Autor: Drew S. Kern, George Tomlinson, Tiago A. Mestre, Connie Marras, Jennifer Jain, Andrew S P Lim, Naomi P. Visanji, Anthony E. Lang, Ekaterina Rogaeva, Achinoam Faust-Socher, Barbara S. Connolly, Lieneke van den Heuvel, Amaal AlDakheel, Carmen Gasca-Salas, Margarita Pondal, Elizabeth Slow, Taneera Ghate, Jana Huang

Publikováno v: Journal of Parkinson's Disease, 8, 1, pp. 131-139
Journal of Parkinson's Disease, 8, 131-139

BACKGROUND With recent advances in the search for disease-modifying therapies for Parkinson's disease (PD) the importance of identifying prodromal markers becomes greater. Non-manifesting LRRK2 mutation carriers (NMC) are at risk for developing PD, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f9a7aeac6fd1efb2bf7577d09df082d
https://doi.org/10.3233/JPD-171151