Results 131 to 140 of about 5,489 (166)

P682: Development of TAF1 genotyping assay for X-linked dystonia-parkinsonism-associated haplotype detection

Genetics in Medicine Open
Eirini Christodoulou, Anna Nagy, Lisa Mahanta, Laura Sack, Heather Mason-Suares   +4 more
doaj   +1 more source

Epidemiologische Studie zum episodischen Kopftremor-Syndrom (Head bobbing) beim Dobermann [PDF]

, 2012
Wolf, Martina
core  

Taf1 knockout is lethal in embryonic male mice and heterozygous females show weight and movement disorders

Disease Models & Mechanisms
Elisa M. Crombie, Andrea J. Korecki, Karen Cleverley, Bethany A. Adair, Thomas J. Cunningham, Weaverly Colleen Lee, Tess C. Lengyell, Cheryl Maduro, Victor Mo, Liam M. Slade, Ines Zouhair, Elizabeth M. C. Fisher, Elizabeth M. Simpson   +12 more
doaj   +1 more source

Correction for Cristopher Bragg et al., Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1. [PDF]

Proc Natl Acad Sci U S A, 2020
europepmc   +1 more source

Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism [PDF]

Brain, 2018
X-linked dystonia-parkinsonism is a neurodegenerative movement disorder characterized by adult-onset dystonia combined with parkinsonism over the disease course. Previous imaging and pathological findings indicate exclusive striatal atrophy with predominant pathology of the striosomal compartment in the dystonic phase of X-linked dystonia-parkinsonism.
Marcus Heldmann, Jannik Prasuhn, Volker Tronnier   +2 more
exaly   +3 more sources

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A Network Imaging Biomarker of X‐Linked Dystonia‐Parkinsonism

Annals of Neurology, 2023
ObjectiveThe purpose of this study was to characterize a metabolic brain network associated with X‐linked dystonia‐parkinsonism (XDP).MethodsThirty right‐handed Filipino men with XDP (age = 44.4 ± 8.5 years) and 30 XDP‐causing mutation negative healthy men from the same population (age = 37.4 ± 10.5 years) underwent [18F]‐fluorodeoxyglucose positron ...
Martin Niethammer, Chris C. Tang, Roland Dominic G. Jamora, An Vo, Nha Nguyen, Yilong Ma, Shichun Peng, Jeff L. Waugh, Ana Westenberger, David Eidelberg   +9 more
openaire   +2 more sources

X-linked dystonia Parkinsonism: crossing a new threshold

Journal of Neural Transmission, 2021
X-linked dystonia parkinsonism (XDP) is a neurodegenerative disorder that has received significant interest on several fronts. Although much still remains to be elucidated regarding the disease cause, a robust amount of data has been produced in recent years compared to when it was first described in 1976.
Arlene R. Ng, Roland Dominic G. Jamora, Raymond L. Rosales   +2 more
openaire   +2 more sources

Neurocognitive profile of patients with X-linked dystonia-parkinsonism

Journal of Neural Transmission, 2021
X-linked dystonia-parkinsonism (XDP) is a debilitating movement disorder endemic to the Panay Island, Philippines. Most studies focus on motor symptoms, hence we reviewed the neurocognitive profile of XDP patients. Neurocognitive testing of XDP patients focused on five domains: general intellectual functioning, episodic memory, language, attention and ...
Roland Dominic G. Jamora, Cezar Thomas R. Suratos, Jesi Ellen C. Bautista, Gail Melissa I. Ramiro, Ana Westenberger, Christine Klein, Lourdes K. Ledesma   +6 more
openaire   +2 more sources

Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism

Parkinsonism & Related Disorders, 2021
X-linked Dystonia-Parkinsonism (XDP) is a progressive, disabling disease characterized by the devastating impairment of bulbar function, including speech and swallowing. Despite these detrimental impacts, bulbar impairments in this population are not well characterized.To identify impairments in the bulbar system measured by oromotor performance in ...
Ana Luiza Zaninotto, Jan K. de Guzman, Kaila L. Stipancic, Bridget J. Perry, Melanie L. Supnet, Criscely Go, Nutan Sharma, Jordan R. Green   +7 more
openaire   +2 more sources