Results 101 to 110 of about 775,921 (319)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Infant Neural Sensitivity to Dynamic Eye Gaze relates to quality of parent–infant interaction at 7-months in infants at risk for Autism [PDF]

, 2014
Links between brain function measures and quality of parent–child interactions within the early developmental period have been investigated in typical and atypical development.
Johnson, Mark H., Charman, Tony; id_orcid, Jonathan Green, Charman, Tony, Green, Jonathan; id_orcid, Mayada Elsabbagh, Wan, M.W., Baron-Cohen, Simon, Volein, Agnes, Bruno, Ruth, Mark H. Johnson, Green, Jonathan, Wan, Ming Wai; id_orcid, Chandler, Susie, Garwood, Holly, Bruno, R., Johnson, Mark H, Pasco, Greg, Charman, T., Bedford, Rachael, Fernandes, Janice, Bolton, Patrick, Green, J., Ming Wai Wan, Tony Charman, Tucker, Leslie, Ruth Bruno, Wan, Ming Wai, Gliga, Teodora, Mercure, Evelyne, null null, Hudry, Kristelle, Elsabbagh, Mayada   +32 more
core   +1 more source

Dermatologic presentations of hyper IgE syndrome in pediatric patients

Allergy, Asthma & Clinical Immunology
Background Hyper-IgE Syndrome, also known as Job’s syndrome, is a rare primary immunodeficiency disorder characterized by recurrent infections and elevated levels of immunoglobulin E.
Mohammad Mahjoubi, Ronak Rashedi, Noosha Samieefar, Fahimeh Abdollahimajd, Nima Rezaei   +4 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Infants need more variety – increased data acquisition with reduced participant attrition in infant ERP studies [PDF]

, 2013
Infant ERP studies often feature high attrition rates with large numbers of trials excluded from statistical analyses. The number of experimental conditions is conventionally limited to reduce the test-sessions’ durations and to ensure that reasonable ...
Stets, M., Burt, Mike, Reid, Vincent, Mike eBurt, Manuela eStets, Vincent M. Reid, Stets, Manuela, Mike Burt, Vincent M Reid, Reid, V.M., Burt, M., Manuela Stets   +11 more
core   +1 more source

Hanger in the Infant [PDF]

The American Journal of the Medical Sciences, 1918
n ...
openaire   +2 more sources

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +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

Dedifferentiated endometrial adenocarcinoma with neuroendocrine differentiation and ballooning-cell features: Report of a rare entity with an unusual histology

Human Pathology: Case Reports, 2019
A 63-year-old Caucasian woman underwent total hysterectomy with bilateral salpingo-oophorectomy due to abnormal uterine bleeding. Gross examination of the hysterectomy specimen revealed a large polypoid mass filling the endometrial cavity.
Sara Makhdoum, MD, M. Ruhul Quddus, MD, M. Phil (Path), Michele M. Lomme, MD, Katrine Hansen, MD, W. Dwayne Lawrence, MD, MSc (Path)   +4 more
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source