Results 61 to 70 of about 7,620,483 (116)

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-Parkinsonism [PDF]

, 2007
X-linked dystonia-parkinsonism (XDP) is a movement disorder endemic to the Philippines. The disease locus, DYT3, has been mapped to Xq13.1. In a search for the causative gene, we performed genomic sequencing analysis, followed by expression analysis of ...
Tabuena, Ma. Daisy, Tomizawa, Maiko, Matsumoto, Shinnichi, Tooyama, Ikuo, Kaji, Ryuji, Ando, Satoshi, Maranon, Elma, Makino, Satoshi, Dantes, Marita, Ogasawara, Kazumasa, Goto, Satoshi, Lee, Lillian V., Nishimura, Masataka, Tamiya, Gen, Yasuno, Katsuhito, Akatsu, Hiroyasu   +15 more
core   +1 more source

Prevalence of Dystonia-Parkinsonism Gene Variants in Individuals with Parkinsonism and Normal Dopamine Transporter Imaging

, 2022
In this project, the prevalence of variants in dystonia-parkinsonism-related genes were investigated in individuals with parkinsonism and normal dopamine transporter SPECT scan.
M Abreu, LP Cook, TM Foroud, KN Nudelman, LM Chahine, JC Schulze, Yaijng Xiong   +6 more
core   +1 more source

The Clinical, Genetic, Psychosocial, and Care Landscape of X-Linked Dystonia-Parkinsonism in Filipino Men: A Scoping Review

American Journal of Men's Health
Background X-linked dystonia-parkinsonism (XDP) is a hereditary movement disorder predominantly affecting Filipino males from Panay Island ancestry.
Mary Dioise Ramos PhD, RN, CNE, FAAN, Jennifer Manning DNS, ACNS-BC, CNE, FCNS, Jolie Harris DNS, RN, CAS, Marie Adorno PhD, APRN, CNS, RNC-MNN, CNE, Rowan Marye MLIS, BFA, Lorraine Evangelista PhD, RN, FAHA, FAAN   +5 more
doaj   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Striatal hyperechogenicity as an ultrasound imaging marker for prodromal X-linked dystonia-parkinsonism

npj Parkinson's Disease
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative genetic disorder with striatal pathology. We investigated 138 participants (61 patients with XDP, 19 non-manifesting carriers (NMC), and 58 healthy controls (HC)) with transcranial sonography ...
Martje G. Pauly, Cid Czarina E. Diesta, Paulo Cataniag, Max Borsche, Henrike Hanssen, Jean Quint L. Oropilla, Uwe Walter, Dirk Dressler, Shela Marie Algodon, Ana Westenberger, Christine Klein, Norbert Brüggemann   +11 more
doaj   +1 more source

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45

Tremor and Other Hyperkinetic Movements, 2017
Background: Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently ...
Andreas Hermann, Hagen H. Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terille, Tobias B. Haack   +7 more
doaj   +1 more source

Variability of motor imagery in children with cerebral palsy examined using the Hand Laterality Test

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1570-1579, November 2026.
Variability of motor imagery performance in children with cerebral palsy. This original article is commented by Souto on pages 1494–1495 of this issue. Abstract Aim To examine motor imagery performance in children with cerebral palsy (CP) compared to typically developing children and develop a composite motor imagery score to differentiate between the ...
Inbar Breuer Asher, Dafna Guttman, Pavel Goldstein, Tal Krasovsky   +3 more
wiley   +1 more source

Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism-dystonia [PDF]

, 2016
Parkinsonism-dystonia is rare in carriers of PRNP P102L mutation. Severity and distribution of prion protein (PrP) deposition may influence the clinical presentation. We present such clinic-pathological correlation in a 56-year-old male with a PRNP P102L
Mari, Zoltan, Greenberg, Michael K., Cohen, Yvonne, Kalakoti, Piyush, Ghetti, Bernardino, Notari, Silvio, Gambetti, Pierluigi, Umeh, Chizoba C., Oblak, Adrian L.   +8 more
core   +1 more source

Systematic assessment of the mouse TATA-box binding protein-associated factor 1 locus reveals novel messenger RNA isoforms and differential protein distribution across brain regions [PDF]

Royal Society Open Science
TATA-box binding protein-associated factor 1 (TAF1) is the largest component of transcription factor IID, a fundamental multi-protein complex for RNA polymerase II-mediated transcription.
Peihang Li, Karen Cleverley, Elisa M. Crombie, Jan Bieschke, Elizabeth M. C. Fisher, Anna-Leigh Brown   +5 more
doaj   +1 more source

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing

, 2022
Background: X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by progressive dystonia and parkinsonism.
Joshua Laβ, Roland Dominic G. Jamora, Norbert Brüggemann, Cid Czarina E. Diesta, Kathleen Schlüter, Susen Schaake, Theresa Lüth, Joanne Trinh, Max Brand, Hauke Busch, Charles Jourdan Reyes, Ana Westenberger, Ronnie Tse, Inken Wohlers, Christine Klein, Gerard Saranza, Jelena Pozojevic, Raymond L. Rosales   +17 more
core   +1 more source