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Patient-Perceived Vocal Effort Immediately Following Voice Tasks in Adductor Laryngeal Dystonia (ADLD).

Autor: Sauder CL; Department of Speech and Hearing Sciences, University of Washington, Seattle, Washington. Electronic address: csauder2@uw.edu., Marks KL; Department of Speech, Language, and Hearing Sciences, Boston University, Boston, Massachusetts; Department of Otolaryngology-Head and Neck Surgery, Emory University, Atlanta, Georgia., Meyer TK; Department of Otolaryngology-Head and Neck Surgery, University of Washington, Seattle, Washington., Giliberto JP; Department of Otolaryngology-Head and Neck Surgery, University of Washington, Seattle, Washington., Knutson M; Department of Otolaryngology-Head and Neck Surgery, University of Washington, Seattle, Washington., Wilson E; Department of Otolaryngology-Head and Neck Surgery, University of Washington, Seattle, Washington., Stepp CE; Department of Speech, Language, and Hearing Sciences, Boston University, Boston, Massachusetts; Department of Otolaryngology-Head and Neck Surgery, Boston University, Boston, Massachusetts; Department of Biomedical Engineering, Boston University, Boston, Massachusetts., Eadie TL; Department of Speech and Hearing Sciences, University of Washington, Seattle, Washington; Department of Speech, Language, and Hearing Sciences, Boston University, Boston, Massachusetts.

Publikováno v: Journal of voice : official journal of the Voice Foundation [J Voice] 2024 Dec 05. Date of Electronic Publication: 2024 Dec 05.

Lamin B1 Accumulation’s Effects on Autosomal Dominant Leukodystrophy (ADLD): Induction of Reactivity in the Astrocytes

Autor: Stefano Ratti, Isabella Rusciano, Sara Mongiorgi, Irene Neri, Alessandra Cappellini, Pietro Cortelli, Pann-Ghill Suh, James A. McCubrey, Lucia Manzoli, Lucio Cocco, Giulia Ramazzotti

Publikováno v: Cells, Vol 10, Iss 10, p 2566 (2021)

Autosomal dominant leukodystrophy (ADLD) is an extremely rare and fatal neurodegenerative disease due to the overexpression of the nuclear lamina component Lamin B1. Many aspects of the pathology still remain unrevealed. This work highlights the effe

Externí odkaz: https://doaj.org/article/8567e748b99a44e784157551ab430d6c

LMNB1-duplication mediated nuclear architecture alteration and demyelination of cerebral white matter in a patient with ADLD.

Autor: Roy V; Department of Surgery, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.; CHU de Québec-Université Laval Research Center, Division of Regenerative Medicine, LOEX, Quebec City, QC, Canada., Bienjonetti I; Department of Surgery, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.; CHU de Québec-Université Laval Research Center, Division of Regenerative Medicine, LOEX, Quebec City, QC, Canada., Brodeur A; Department of Surgery, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.; CHU de Québec-Université Laval Research Center, Division of Regenerative Medicine, LOEX, Quebec City, QC, Canada., Dion-Albert L; Department of Surgery, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.; CHU de Québec-Université Laval Research Center, Division of Regenerative Medicine, LOEX, Quebec City, QC, Canada., Touzel-Deschênes L; Department of Surgery, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.; CHU de Québec-Université Laval Research Center, Division of Regenerative Medicine, LOEX, Quebec City, QC, Canada., Gould PV; Department of Medical Biology, Division of Anatomic Pathology and Neuropathology, CHU de Québec, Quebec City, QC, Canada., Saikali S; Department of Medical Biology, Division of Anatomic Pathology and Neuropathology, CHU de Québec, Quebec City, QC, Canada., Laforce RJ; Department of Neurological Sciences, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.; CHU de Québec-Université Laval Research Center, Division of Neurosciences, Quebec City, QC, Canada.; Clinique Interdisciplinaire de Mémoire, CHU de Québec, Quebec City, QC, Canada., Gros-Louis F; Department of Surgery, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.; CHU de Québec-Université Laval Research Center, Division of Regenerative Medicine, LOEX, Quebec City, QC, Canada.

Publikováno v: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2023 Dec 15, pp. e12947. Date of Electronic Publication: 2023 Dec 15.

A retrospective review of LMNB1-related autosomal dominant leukodystrophy.

Autor: Ortiz, Judit M. Perez^1,2 (AUTHOR), Muthusamy, Karthik³ (AUTHOR), Tobin, W. Oliver^2,4 (AUTHOR), Gavrilova, Ralitza^2,5 (AUTHOR), Cousin, Margot A.^6,7 (AUTHOR), Dhamija, Radhika^2,5 (AUTHOR) dhamija.radhika@mayo.edu

Publikováno v: Journal of Rare Diseases. 10/1/2024, Vol. 3 Issue 1, p1-5. 5p.