Lindsey N. Campion

Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney et autres

us, ph (code pays fourni par la source)

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney et autres

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. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of variable length, whose length is inversely correlated with age at onset. …

us, ph (code pays fourni par la source)

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney et autres

Abstract 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. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of variable length, whose length is inversely correlated with age at …

us, ca, ph (code pays fourni par la source)

Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism

Cara Fernandez‐Cerado, G. Paul Legarda, M. Salvie Velasco-Andrada, Abegail Aguil et autres

X-Linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease affecting individuals with ancestry to the island of Panay in the Philippines. In recent years there has been considerable progress at elucidating the genetic basis of XDP and candidate disease mechanisms in patient-derived cellular models, …

ca, ph, us, nz (code pays fourni par la source)

Isolated Cervical Dystonia: Management and Barriers to Care

Melanie Leigh Supnet, Patrick J. Acuña, Samuel J. Carr, Jan Kristoper De Guzman et autres

Background: Cervical dystonia (CD) is a rare disorder, and health care providers might be unfamiliar with its presentation, thus leading to delay in the initial diagnosis. The lack of awareness displays the need to highlight the clinical features and treatment in cervical …

us, ph (code pays fourni par la source)

TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X‐linked Dystonia‐Parkinsonism

Jamal Al Ali, Christine A. Vaine, Shivangi Shah, Lindsey N. Campion et autres

BACKGROUND: X-linked dystonia-parkinsonism is a rare neurological disease endemic to the Philippines. Dystonic symptoms appear in males at the mean age of 40 years and progress to parkinsonism with degenerative pathology in the striatum. A retrotransposon inserted in intron 32 of the …

us, ca, ph, my (code pays fourni par la source)