Results 171 to 180 of about 344,702 (300)

Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis. [PDF]

J Neuroinflammation, 2021
Thomas S, Fayet OM, Truffault F, Fadel E, Provost B, Hamza A, Berrih-Aknin S, Bonnefont JP, Le Panse R.   +8 more
europepmc   +1 more source

Clinical and Biological Determinants of Longitudinal Cognitive Function in Patients With GBA1 Variants and Subthalamic Deep Brain Stimulation

Annals of Neurology, EarlyView.
Objective Whether cognitive decline in patients with Parkinson's disease (PD) carrying GBA1 variants is accelerated after subthalamic deep brain stimulation (STN‐DBS) remains controversial. Clarifying long‐term cognitive outcomes is essential for informed decision making.
Moritz A. Loeffler, Philipp Klocke, Isabel Wurster, Stefanie Lerche, Idil Cebi, Thomas Gasser, Alireza Gharabaghi, Kathrin Brockmann, Daniel Weiss   +8 more
wiley   +1 more source

Erratum: The prognostic significance of fragile X mental retardation syndrome-related protein 1 (FXR1) in breast cancer. [PDF]

Transl Cancer Res
Editorial Office.
europepmc   +1 more source

X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene. [PDF]

Mol Genet Genomic Med, 2022
Shakarami F, Jahani M, Nouri Z, Tabatabaiefar MA.   +3 more
europepmc   +1 more source

Individualized Atrophy‐Based Prediction of Dementia Progression in Familial Frontotemporal Lobar Degeneration With Bayesian Linear Mixed‐Effects Modeling

Annals of Neurology, EarlyView.
Objective Age of symptom onset is highly variable in familial frontotemporal lobar degeneration (f‐FTLD). Accurate prediction of onset would inform clinical management and trial enrollment. Prior studies indicate that individualized maps of brain atrophy can predict conversion to dementia in f‐FTLD.
Shubir Dutt, Dana Leichter, Yann Cobigo, Amy Wolf, John Kornak, Annie Clark, Lucy L. Russell, Arabella Bouzigues, David M. Cash, Martina Bocchetta, Molly Olzinski, Brian Appleby, Ece Bayram, Barbara Borroni, Andrea Bozoki, Chris R. Butler, David Clark, Rhian S. Convery, R. Ryan Darby, Alexandre de Mendonça, Bradford Dickerson, Kimiko Domoto‐Reilly, Simon Ducharme, Eve Ferry‐Bolder, Elizabeth Finger, Phoebe H. Foster, Douglas R. Galasko, Daniela Galimberti, Alexander Gerhard, Nupur Ghoshal, Caroline Graff, Neill Graff‐Radford, Ian M. Grant, Chadwick M. Hales, Lawrence S. Honig, Ging‐Yuek Hsiung, Edward D. Huey, David Irwin, Lize C. Jiskoot, Walter Kremers, Justin Y. Kwan, Robert Laforce, Isabelle Le Ber, Gabriel C. Léger, Johannes Levin, Irene Litvan, Ian R. Mackenzie, Mario Masellis, Mario F. Mendez, Fermin Moreno, Chiadi Onyike, Markus Otto, Belen Pascual, Peter Pressman, Rosa Rademakers, Eliana Marisa Ramos, Aaron Ritter, Erik D. Roberson, James B. Rowe, Raquel Sanchez‐Valle, Isabel Santana, Harro Seelaar, Allison Snyder, Sandro Sorbi, Matthis Synofzik, Maria Carmela Tartaglia, Pietro Tiraboschi, John C. van Swieten, Marijne Vandebergh, Rik Vandenberghe, Hilary W. Heuer, Bruce L. Miller, William W. Seeley, Maria Luisa Gorno‐Tempini, Joel H. Kramer, Leah Forsberg, Kejal Kantarci, Bradley F. Boeve, Adam L. Boxer, Jonathan D. Rohrer, Howard J. Rosen, Adam M. Staffaroni, FTD Prevention Initiative (FPI) investigators   +82 more
wiley   +1 more source

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis. [PDF]

BMC Ophthalmol
Peng J, Xie Y, Wang H, Huang L, Yang Y, Li N.   +5 more
europepmc   +1 more source

Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation. [PDF]

Genes (Basel), 2022
Nguyen XP, Vilkaite A, Messmer B, Dietrich JE, Hinderhofer K, Schäkel K, Strowitzki T, Rehnitz J.   +7 more
europepmc   +1 more source

X Linked Mental Retardation [PDF]

Australian Journal of Mental Retardation, 1970
openaire   +2 more sources

Redox‐Activated Probes Enable High‐Contrast Live Imaging of Native Postsynaptic Scaffolds

Angewandte Chemie International Edition, EarlyView.
Sylives are modified fluorescent peptides for high‐contrast live imaging of inhibitory (gephyrin) and excitatory (PSD‐95) postsynaptic scaffolds in native neurons. Clean labeling requires low nanomolar probe levels, whereas uptake needs micromolar cell‐penetrating peptide (CPP).
Christiane Huhn, Clémence Mille, Sheng‐Yang Ho, Felix Lützenkirchen, Vladimir Khayenko, Melanie Hein, Christian Werner, Matthias Kneussel, Johannes W. Hell, Christian G. Specht, Hans M. Maric   +10 more
wiley   +1 more source

Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants. [PDF]

Ital J Pediatr
Chang SH, Jin JY, Hu YQ, Wang RY, Xiang R, Wang X.   +5 more
europepmc   +1 more source