Results 81 to 90 of about 7,564,623 (164)

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

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

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

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

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

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism

, 2022
Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders
Vallian S., Sadr-Nabavi A., Olfati N., Andrenelli E., Boesch S., Garavaglia B., Invernizzi F., Kopajtich R., Kazemi A., Romito L. M., Capecci M., Shariati M., Straccia G., Zech M., Prokisch H., Winkelmann J., Shoeibi A.   +16 more
core   +1 more source

The prevalence of PRKRA mutations in idiopathic dystonia

, 2018
Introduction: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts.
Ferraz, Henrique Ballalai [UNIFESP], Silva-Junior, Francisco Pereira da, Puga, Renato David, João Carlos Papaterra Limongi, Henrique Ballalai Ferraz, Silva, Sonia Maria Cesar Azevedo [UNIFESP], Maria Sheila Guimarães Rocha, Aguiar, Patricia de Carvalho [UNIFESP], Egberto Reis Barbosa, Borges, Vanderci [UNIFESP], Barbosa, Egberto Reis, Rocha, Maria Sheila Guimaraes, Sonia Maria Cesar Azevedo Silva, Limongi, Joao Carlos Papaterra, Camila Oliveira dos Santos, Renato David Puga, Francisco Pereira da Silva-Júnior, Patricia de Carvalho Aguiar, Vanderci Borges, Santos, Camila Oliveira dos   +19 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

Research productivity of the Department of Neurosciences of the University of the Philippines Manila: a bibliometric analysis

Cogent Education
Research output is widely recognized as a key indicator of productivity and a measure of the status of a nation’s research activity. This bibliometric analysis examined the research productivity of the Department of Neurosciences at the University of the
Mykha Marie B. Tabuzo, Ena Elizabeth L. Naoe, Veeda Michelle M. Anlacan, Roland Dominic G. Jamora   +3 more
doaj   +1 more source