Results 121 to 130 of about 7,564,623 (164)

Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao. [PDF]

Mov Disord Clin Pract
Doquenia MLM, Dy Closas AMF, Algodon SM, Suarez-Uy R, Ng A, Laabs BH, Westenberger A, Brüggemann N, Rosales RL, Jamora RD, Klein C.   +10 more
europepmc   +1 more source

Clinical Outcomes with Prospective Brain Sensing Data Following Bilateral Globus Pallidus Deep Brain Stimulation in X-Linked Dystonia Parkinsonism. [PDF]

Mov Disord Clin Pract
Donlon E, O'Keeffe C, Horan J, Ruggieri F, Fitzpatrick J, O'Neill M, Alexander M, Fearon C, Moran C, Walsh RA.   +9 more
europepmc   +1 more source

ZNF91 is an endogenous repressor of the molecular phenotype associated with X-linked dystonia-parkinsonism (XDP). [PDF]

Proc Natl Acad Sci U S A
Rosenkrantz JL, Brandorff JE, Raghib S, Kapadia A, Vaine CA, Bragg DC, Farmiloe G, Jacobs FMJ.   +7 more
europepmc   +1 more source

Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism. [PDF]

Mov Disord Clin Pract, 2020
Stephen CD, Go CL, Acuna P, Sharma N.
europepmc   +1 more source

G-quadruplexes in an SVA retrotransposon cause aberrant TAF1 gene expression in X-linked dystonia parkinsonism. [PDF]

Nucleic Acids Res
Nicoletto G, Terreri M, Maurizio I, Ruggiero E, Cernilogar FM, Vaine CA, Cottini MV, Shcherbakova I, Penney EB, Gallina I, Monchaud D, Bragg DC, Schotta G, Richter SN.   +13 more
europepmc   +1 more source

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

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

Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism.

JAMA Neurol, 2019
Brüggemann N, Domingo A, Rasche D, Moll CKE, Rosales RL, Jamora RDG, Hanssen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn A, Münte TF, Tronnier V, Klein C.   +16 more
europepmc   +1 more source

Phenomenology of “Lubag” or X-Linked Dystonia–Parkinsonism [PDF]

Movement Disorders, 2002
AbstractX‐linked dystonia–parkinsonism (XDP), or Lubag syndrome, is known to cause progressive dystonia, with or without parkinsonism, among Filipino male adults with maternal roots from the Philippine island of Panay. We present cinematographic material of 11 cases of Lubag carrying the XDP haplotypes who manifest with a wide spectrum of movement ...
Andrew Singleton, John Anthony Hardy, Virgilio Gerald H Evidente   +2 more
exaly   +12 more sources