Results 71 to 80 of about 241,752 (284)

Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family

Scientific Reports, 2017
The emergence of genes implicated across multiple comorbid neurologic disorders allows to identify shared underlying molecular pathways. Recently, investigation of patients with diverse neurologic disorders found TANC1 and TANC2 as possible candidate ...
Alessandra Gasparini, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela Leonardi   +3 more
doaj   +1 more source

Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome. [PDF]

, 2020
Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by developmental delay, impaired communication, motor deficits and ataxia, intellectual disabilities, microcephaly, and seizures. The genetic cause of AS is the loss of expression
Adhikari, A, Anderson, AE, Beitnere, U, Berg, EL, Born, HA, Cameron, DL, Copping, NA, Deng, P, Dindot, SV, Ellegood, J, Fenton, TA, Fink, KD, Harris, S, Lee, RD, Lerch, JP, Nash, KR, Nieman, BJ, Noakes, LS, O'Geen, H, Pedersen, LR, Peters, MM, Petkova, SP, Pride, MC, Segal, DJ, Shen, Y, Silverman, JL, Weeber, EJ, Wöhr, M   +27 more
core   +2 more sources

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes

Molecular Autism, 2019
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which reactivation of Ube3a gene ...
Monica Sonzogni, Johanna Hakonen, Mireia Bernabé Kleijn, Sara Silva-Santos, Matthew C. Judson, Benjamin D. Philpot, Geeske M. van Woerden, Ype Elgersma   +7 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Construct validity and reliability of the Dementia Test for People with Intellectual Disability: neuropsychological test battery for assessing cognitive functioning in people with intellectual disability

BJPsych Open
Background People with an intellectual disability are vulnerable to additional disorders such as dementia. Psychometrically sound and specific instruments are needed for assessment of cognitive functioning in cases of suspected dementia.
Tanja Sappok, Miriam Flachsmeyer, Peggy Rösner, Björn Kruse, Sandra-Verena Müller, Daria Tarasova   +5 more
doaj   +1 more source

Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. [PDF]

, 2019
ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the ...
Amato, Michele, Cabaral, Margarita H, Cruz, Joshua, Durdle, Courtney, Harvey, Danielle, McCabe, Kathryn L, Popa, Abbie M, Simon, Tony J, Tartaglia, Nicole, Wong, Ling M   +9 more
core   +1 more source

Global increases in both common and rare copy number load associated with autism. [PDF]

, 2013
Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been ...
Baker, Carl, Balciuniene, Jorune, Eichler, Evan E, Fox, Keolu, Girirajan, Santhosh, Hansen, Robin, Hertz-Picciotto, Irva, Johnson, Rebecca L, Katiyar, Neerja, Khoo, Su Jen, Nauth, Therese B, Pessah, Isaac N, Ritchie, Marylyn, Selleck, Scott B, Srikanth, Abhinaya, Tassone, Flora, Yeoh, Kian Hui   +16 more
core   +2 more sources

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source