Results 81 to 90 of about 7,623,875 (163)

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

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

Cognitive impairment in Parkinson disease correlates with loss of cholinergic axon projections to cortex in an autopsy study

Alzheimer's &Dementia, Volume 22, Issue 10, October 2026.
Abstract INTRODUCTION People with Parkinson's disease (PD) frequently develop dementia. We investigated the relationship between cognitive impairment and the loss of cholinergic axon projections from the nucleus basalis of Meynert to neocortical regions in PD.
Rebecca Miller, Jennifer O'Shea, Laura M. Rosok, Sydney Lim, Erin E. Franklin, Richard J. Perrin, Helen Hwang, Dhruva Dhavale, Joel Perlmutter, Meghan C. Campbell, Paul Kotzbauer   +10 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

Transcriptome‐Based Identification of ZZEF1 and ENTPD5 as Candidate Genes for Dystonia

Movement Disorders, EarlyView.
Alexandra Rudnik, Mirja Thomsen, Vicente A. Yépez, Ai Huey Tan, Frauke Hinrichs, Sebastian Loens, Shen‐Yang Lim, Yi Wen Tay, Thomas Musacchio, Sören Franzenburg, Tobias Bäumer, Marius Möller, Hauke Busch, Christine Klein, Norbert Brüggemann, Katja Lohmann   +15 more
wiley   +1 more source

DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).

, 1994
The locus (DYT3) underlying the X-linked dystonia-parkinsonism syndrome (XDP) was delineated within proximal Xq12-Xq13.1 by analysis of linkage, allelic association, and haplotypes. Short tandem repeat polymorphisms at loci DXS227, DXS559, DXS453, DXS106,
Monaco, Anthony, Fairweather, Nicholas, Chelly, Jamel, Haberhausen, Gerd, Müller, Ulrich, Wagner, Torsten   +5 more
core   +1 more source

Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.

, 2022
INTRODUCTION: Although shared genetic factors have been previously reported between dystonia and other neurologic conditions, no sequencing study exploring such links is available.
Runkel, Eva D., Švantnerová, Jana, Zech, Michael, Berweck, S., Škorvánek, Matej, Mall, V., Dzinovic, Ivana, Eckenweiler, Matthias, Švantnerová, J., Weise, D., Held, Valentin, Winkelmann, Juliane, Weise, David, Mall, Volker, Haslinger, Bernhard A., Winkelmann, J., Zech, M., Pavelekova, Petra, Havránková, P., Tsoma, E., Pavelekova, P., Janzarik, W.G., Havránková, Petra, Necpál, J., Boesch, Sylvia, Berweck, Steffen, Škorvánek, M., Held, V., Runkel, E., Jech, Robert, Indelicato, E., Eckenweiler, M., Boesch, S., Indelicato, Elisabetta, Tsoma, Eugenia, Haslinger, B., Necpál, Ján, Jech, R., Dzinovic, I., Janzarik, Wibke, Juliane Winkelmann, Steffen Berweck, Petra Pavelekova, Elisabetta Indelicato, Jana Švantnerová, Ivana Dzinovic, Sylvia Boesch, Valentin Held, Ján Necpál, Michael Zech, Robert Jech, Volker Mall, Bernhard Haslinger, Eugenia Tsoma, Matthias Eckenweiler, Wibke Janzarik, Eva Runkel, Matej Škorvánek, Dzinovic, Ivana;Boesch, Sylvia;Škorvánek, Matej;Necpál, Ján;Švantnerová, Jana;Pavelekova, Petra;Havránková, Petra;Tsoma, Eugenia;Indelicato, Elisabetta;Runkel, Eva;Held, Valentin;Weise, David;Janzarik, Wibke;Eckenweiler, Matthias;Berweck, Steffen;Mall, Volker;Haslinger, Bernhard;Jech, Robert;Winkelmann, Juliane;Zech, Michael, David Weise, Petra Havránková   +60 more
core   +1 more source

The roles of TAF1 in neuroscience and beyond

Royal Society Open Science
The transcriptional machinery is essential for gene expression and regulation; dysregulation of transcription can result in a range of pathologies, including neurodegeneration, cancer, developmental disorders and cardiovascular disease.
Elisa M. Crombie, Karen Cleverley, H. T. Marc Timmers, Elizabeth M. C. Fisher   +3 more
doaj   +1 more source

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

JAMA Neurol, 2019
ImportanceAnecdotal evidence suggests that deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in ameliorating dystonia in X-linked dystonia parkinsonism (XDP), a disease that is usually refractive to medical therapy.ObjectiveTo determine the efficacy of GPi-DBS in a cohort of patients with XDP in a prospective study and ...
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   +3 more sources