Results 91 to 100 of about 11,674 (220)

DNA editing in DNA/RNA hybrids by adenosine deaminases that act on RNA. [PDF]

, 2017
Adenosine deaminases that act on RNA (ADARs) carry out adenosine (A) to inosine (I) editing reactions with a known requirement for duplex RNA. Here, we show that ADARs also react with DNA/RNA hybrid duplexes.
Beal, Peter A, Lorenzo, Claire, Zheng, Yuxuan   +2 more
core   +1 more source

Dysmorphological and Neuropsychological Phenotypes of Prenatally Alcohol‐Exposed 6‐Year‐Old Children: A Prospective Longitudinal Birth Cohort Study

Alcohol, Clinical and Experimental Research, Volume 50, Issue 5, May 2026.
A prospective cohort study assessed 28 children with substantial prenatal alcohol exposure (PAE) and 52 controls at the age of 6. Most PAE children met Fetal Alcohol Spectrum Disorder (FASD) criteria, showing dysmorphic features, neurocognitive deficits, ADHD symptoms, and other health impairments. None had a prior diagnosis, demonstrating the need for
M. Jolma, E. Wallén, E. Saure, K. Rämö, H. Kahila, N. Kaminen‐Ahola   +5 more
wiley   +1 more source

Pyridoxal Phosphate Supplementation in Neuropediatric Disorders

Seminars in Pediatric Neurology, 2016
Pyridoxal phosphate (PLP) is the active form of vitamin B6 and a cofactor in many enzyme reactions including neurotransmitter metabolism. PLP metabolism disturbances may mostly lead to refractory seizures. In this report, we review the main pathophysiological factors related with PLP deficiency and our experience in PLP treatment in pediatric patients ...
Cortés-Saladelafont E, Molero M, Hsjd Working Group, Artuch-Iriberri R, Garcia-Cazorla A   +4 more
openaire   +3 more sources

Molybdenum Cofactor Deficiency. A Differential Diagnosis in a Newborn with Seizures [PDF]

, 2001
Descrevemos um lactente com doença neurológica grave caracterizada por convulsões mioclónicas e tónicas, com início no período neonatal, refractárias a vários anticonvulsivantes, assim como, tetraparésia espástica.
Calado, E, Ferreira, AC, Sequeira, S
core  

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1 [PDF]

, 2017
The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described.
Arumilli, Meharji, Bathen-Noethen, Andrea, Bhatti, Sofie, Boettcher, Irene C, Cortez, Miguel A, Dietschi, Elisabeth, Fischer, Andrea, Flegel, Thomas, Hytönen, Marjo K, Hülsmeyer, Velia, James, Fiona, Kluger, Gerhard, Kornberg, Marion, Koskinen, Lotta LE, Leeb, Tosso, Lohi, Hannes, Matiasek, Kaspar, Rentmeister, Kai, Sarviaho, Riika, Tipold, Andrea, Tästensen, Carina, Wielaender, Franziska   +21 more
core   +1 more source

Subjective and Objective Sleep Measures in Patients With Insomnia With and Without Depression

Brain and Behavior, Volume 16, Issue 4, April 2026.
While current depressive symptoms are associated primary with subjective sleep quality parameters, depressive disorder as a trait is linked to objective changes of the sleep architecture. All measures controlled for confounders (age, sex, comorbidities, medication).
Tina Carbonetti, Michal Bechny, Corrado Garbazza, Jana Koprivova, Karolina Janku, Helen Christina Slawik, Annette Beatrix Bruehl, Undine Emmi Lang, Jan Sarlon   +8 more
wiley   +1 more source

Monitoring and Managing Patients with Tuberous Sclerosis Complex: Current State of Knowledge

Journal of Multidisciplinary Healthcare, 2022
Inês Gomes,1 Joana Jesus Ribeiro,2 Filipe Palavra3– 5 1Neurology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; 2Neurology Department, Centro Hospitalar de Leiria, Leiria, Portugal; 3Center for Child Development ...
Gomes I, Jesus Ribeiro J, Palavra F
doaj  

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, Volume 67, Issue 4, Page 1945-1960, April 2026.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

A visual conflict hypothesis for global-local visual deficits in Williams Syndrome: simulations and data [PDF]

, 2005
Individuals with Williams Syndrome demonstrate impairments in visuospatial cognition. This has been ascribed to a local processing bias. More specifically, it has been proposed that the deficit arises from a problem in disengaging attention from local ...
Abreu, M.A., Annaz, Dagmara, French, R.M., Schonen, S., Thomas, Michael S.C.   +4 more
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