[HTML][HTML] Uncovering essential tremor genetics: The promise of long-read sequencing
Long-read sequencing (LRS) technologies have been recently introduced to overcome
intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely …
intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely …
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
CJ Record, M Pipis, M Skorupinska, J Blake, R Poh… - Brain, 2024 - academic.oup.com
Abstract Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically
heterogeneous inherited neurological diseases, with more than 130 disease-causing genes …
heterogeneous inherited neurological diseases, with more than 130 disease-causing genes …
[HTML][HTML] Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
LN Campion, A Mejia Maza, R Yadav… - Acta neuropathologica …, 2022 - Springer
X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative
disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene …
disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene …
[HTML][HTML] Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with …
T Lüth, J Laβ, S Schaake, I Wohlers, J Pozojevic… - Genes, 2022 - mdpi.com
Background: X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative
disorder characterized by progressive dystonia and parkinsonism. It is caused by a SINE …
disorder characterized by progressive dystonia and parkinsonism. It is caused by a SINE …
[HTML][HTML] Deletion of taf1 and taf5 in zebrafish capitulate cardiac and craniofacial abnormalities associated with TAFopathies through perturbations in metabolism
Intellectual disability is a neurodevelopmental disorder that affects 2-3% of the general
population. Syndromic forms of intellectual disability frequently have a genetic basis and are …
population. Syndromic forms of intellectual disability frequently have a genetic basis and are …
[HTML][HTML] X-linked dystonia-parkinsonism: over and above a repeat disorder
J Pozojevic, JN Cruz, A Westenberger - Medizinische Genetik, 2022 - degruyter.com
X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative movement
disorder, caused by a founder retrotransposon insertion in an intron of the TAF1 gene. This …
disorder, caused by a founder retrotransposon insertion in an intron of the TAF1 gene. This …
Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in X …
L D'ignazio, RS Jacomini, B Qamar, KJM Benjamin… - Eneuro, 2022 - eneuro.org
X-linked dystonia-parkinsonism (XDP) is an inherited, X-linked, adult-onset movement
disorder characterized by degeneration in the neostriatum. No therapeutics alter disease …
disorder characterized by degeneration in the neostriatum. No therapeutics alter disease …
SAK3 confers neuroprotection in the neurodegeneration model of X-linked Dystonia-Parkinsonism
S Aryal, S Chen, KF Burbach, Y Yang, LS Capano… - 2024 - researchsquare.com
Background X-linked Dystonia-Parkinsonism (XDP) is an adult-onset neurodegenerative
disorder that results in the loss of striatal medium spiny neurons (MSNs). XDP is associated …
disorder that results in the loss of striatal medium spiny neurons (MSNs). XDP is associated …
TAFopathies Result from Derangements in Transcriptional Regulation of Metabolism
JM Leid - 2023 - search.proquest.com
Cardiogenesis and the maintenance of cardiac physiology necessitate dynamic and
carefully coordinated transcription programs. Studies in a many systems–both in vitro and in …
carefully coordinated transcription programs. Studies in a many systems–both in vitro and in …
[PDF][PDF] Ria Arora1, 4, Tomoyo Sawada1, 2, Taylor A. Evans1, 2, Kenneth E. Diffenderfer5, Aimee R. Pankonin5, William T. Hendriks6, 7, Thomas M Hyde1, 3, Joel E …
L D'Ignazio, RS Jacomini, B Qamar, KJM Benjamin - academia.edu
Abstract X-linked Dystonia-Parkinsonism (XDP) is an inherited, X-linked, adult-onset
movement disorder characterized by degeneration in the neostriatum. No therapeutics alter …
movement disorder characterized by degeneration in the neostriatum. No therapeutics alter …