Results 141 to 150 of about 482,563 (349)

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source

Sensory cortical interactions in aging, mild cognitive impairment, and Alzheimer’s disease [PDF]

, 2001
Edward J. Golob, Gemma G. Miranda, Julene K. Johnson, Arnold Starr   +3 more
openalex   +1 more source

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore, Gianmichele Migaleddu, Pei‐Chien Tsai, Antonella Fogli, Maria Adelaide Caligo, Gabriele Siciliano, Mirco Cosottini, Yi‐Chung Lee, Yi‐Chu Liao, Michelangelo Mancuso, Roberto Ceravolo, Daniela Frosini   +11 more
wiley   +1 more source

Staging of amyloid β, t‐tau, regional atrophy rates, and cognitive change in a nondemented cohort: Results of serial mediation analyses

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2018
Introduction Current models posit a sequence of amyloid β (Aβ), tau, atrophy, and cognitive change leading to Alzheimer's disease, but ambiguities remain. We examined these sequences via serial mediations.
Evan Fletcher, Teresa Jenica Filshtein, Danielle Harvey, Alice Renaud, Dan Mungas, Charles DeCarli, Alzheimer's Disease Neuroimaging Initiative   +6 more
doaj   +1 more source

Regional magnetization transfer ratio changes in mild cognitive impairment [PDF]

, 2001
Noor Jehan Kabani, John G. Sled, Anita Shuper, Howard Chertkow   +3 more
openalex   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Federated Learning for Predicting Mild Cognitive Impairment to Dementia Conversion [PDF]

arXiv
Dementia is a progressive condition that impairs an individual's cognitive health and daily functioning, with mild cognitive impairment (MCI) often serving as its precursor. The prediction of MCI to dementia conversion has been well studied, but previous studies have almost always focused on traditional Machine Learning (ML) based methods that require ...
arxiv  

Sentence Segmentation in Narrative Transcripts from Neuropsychological Tests using Recurrent Convolutional Neural Networks [PDF]

arXiv, 2016
Automated discourse analysis tools based on Natural Language Processing (NLP) aiming at the diagnosis of language-impairing dementias generally extract several textual metrics of narrative transcripts. However, the absence of sentence boundary segmentation in the transcripts prevents the direct application of NLP methods which rely on these marks to ...
arxiv  

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source