Results 31 to 40 of about 280,147 (323)

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

Low self-concept in poor readers: prevalence, heterogeneity, and risk [PDF]

PeerJ, 2016
There is evidence that poor readers are at increased risk for various types of low self-concept—particularly academic self-concept. However, this evidence ignores the heterogeneous nature of poor readers, and hence the likelihood that not all poor ...
Genevieve McArthur, Anne Castles, Saskia Kohnen, Erin Banales   +3 more
doaj   +2 more sources

Early‐onset Alzheimer's disease shows a distinct neuropsychological profile and more aggressive trajectories of cognitive decline than late‐onset

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1962-1973, December 2022., 2022
Abstract Objectives Early‐ and late‐onset Alzheimer's disease (EOAD and LOAD) share the same neuropathological traits but show distinct cognitive features. We aimed to explore baseline and longitudinal outcomes of global and domain‐specific cognitive function in a well characterized cohort of patients with a biomarker‐based diagnosis.
Adrià Tort‐Merino, Neus Falgàs, Isabel E. Allen, Mircea Balasa, Jaume Olives, José Contador, Magdalena Castellví, Jordi Juncà‐Parella, Núria Guillén, Sergi Borrego‐Écija, Bea Bosch, Guadalupe Fernández‐Villullas, Oscar Ramos‐Campoy, Anna Antonell, Lorena Rami, Raquel Sánchez‐Valle, Albert Lladó   +16 more
wiley   +1 more source

Genetics of recessive cognitive disorders [PDF]

Trends in Genetics, 2014
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk.
Luciana Musante, H. Hilger Ropers
openaire   +4 more sources

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022
Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis.
Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van der Knaap, Nicole I. Wolf, Samuel Groeschel   +7 more
wiley   +1 more source

The locus of impairment in English developmental letter position dyslexia

Frontiers in Human Neuroscience, 2014
Many children with reading difficulties display phonological deficits and struggle to acquire nonlexical reading skills. However, not all children with reading difficulties have these problems, such as children with selective Letter Position Dyslexia ...
Yvette eKezilas, Saskia eKohnen, Meredith eMcKague, Anne eCastles   +3 more
doaj   +1 more source

Major Depressive Disorder Recognition and Cognitive Analysis Based on Multi-layer Brain Functional Connectivity Networks [PDF]

International Workshop on AI for Cognitive and Physical Frailty Workshop in Conjunction with IJCAI 2021 (AIF-IJCAI'21), 2021
On the increase of major depressive disorders (MDD), many researchers paid attention to their recognition and treatment. Existing MDD recognition algorithms always use a single time-frequency domain method method, but the single time-frequency domain method is too simple and is not conducive to simulating the complex link relationship between brain ...
arxiv  

Apraxia: a gestural or a cognitive disorder? [PDF]

Brain, 2014
François Osiurak1,2 and Didier Le Gall31 Laboratoire d’Etude des Mécanismes Cognitifs (EA 3082), Université de Lyon, France2 Institut Universitaire de France, Paris, France3 Laboratoire de Psychologie des Pays de la Loire (EA 4638), Université d’Angers, FranceCorrespondence to: François Osiurak, Laboratoire d’Etude des Mécanismes Cognitifs (EA 3082 ...
François Osiurak, François Osiurak, Didier Le Gall   +2 more
openaire   +7 more sources

Hierarchical Clustering Analysis of Reading Aloud Data: A New Technique for Evaluating the Performance of Computational Models

Frontiers in Psychology, 2014
DRC (Coltheart et al., 2001) and CDP++ (Perry, Zorzi, & Ziegler, 2010) are two of the most successful models of reading aloud. These models differ primarily in how their sublexical systems convert letter strings into phonological codes.
Serje eRobidoux, Stephen ePritchard
doaj   +1 more source

Mechanisms in neurodegenerative disorders and role of non-pharmacological interventions in improving neurodegeneration and its clinical correlates: A review [PDF]

arXiv, 2023
Mild cognitive impairment (MCI) leading to dementia results in a constellation of psychiatric disorders including depression, mood disorders, schizophrenia and others. With increasing age, mild cognitive impairment leads to increased disability-adjusted life-years and healthcare burden.
arxiv