Results 121 to 130 of about 222,082 (280)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Huperzine A suppresses absence seizures in the genetic absence epilepsy rat from Strasbourg (GAERS) model of genetic generalized epilepsy with absence seizures

Epilepsia Open
Objective We evaluated huperzine A treatment in the Genetic Absence Epilepsy Rat from Strasbourg (GAERS) model of genetic generalized epilepsy (GGE) with absence seizures.
Pablo M. Casillas‐Espinosa, Jennie Garcia‐Olivares, Rui Li, Crystal Li, Chungping Yu, Andrea E. Formella, Terence J. O'Brien   +6 more
doaj   +1 more source

Typical Absence Seizures and Related Epilepsy Syndromes

Archives of Epilepsy, 2018
Typical absence (TA) seizures are brief generalized seizures of abrupt onset and termination characterized by loss of awareness with subtle motor features.
Demet KINAY
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Epilepsie im Kindesalter: Wann kann die antiepileptische Therapie abgesetzt werden?: Eine Meinungsäußerung des Königsteiner Arbeitskreises [PDF]

, 2018
: The Königsteiner Arbeitskreis (KA) discussed the optimal timing of discontinuation of antiepileptic drugs (AE) in children. Because the controlled trials are rare and inconsistent it was decided to publish the results of the discussion and the approach
Albani, Michael, Bast, Thomas, Brandl, Ulrich, Korinthenberg, Rudolf, Kurlemann, Gerhard, Neubauer, Bernd, Schmitt, Bernhard, Stephani, Ulrich, Wolff, Markus   +8 more
core  

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Aneurysm Wall Enhancement and Probability of Instability in Unruptured Intracranial Aneurysms: A Long‐Term Follow‐Up Study

Annals of Neurology, EarlyView.
Objective Aneurysm wall enhancement (AWE) may predict aneurysm growth and rupture in the short‐term, but there is a lack of long‐term follow‐up studies. We aimed to determine whether unruptured intracranial aneurysms (UIAs) with AWE have a higher probability of aneurysm instability during long‐term follow‐up compared with those without AWE. Methods For
Laura T. van der Kamp, Maarten J. Kamphuis, Olivier Naggara, Thomas Le Tat, Gabriel J. E. Rinkel, Gérard A. P. de Kort, Ruben P. A. van Eijk, Jeroen Hendrikse, Irene C. van der Schaaf, Mervyn D. I. Vergouwen   +9 more
wiley   +1 more source

Electronic Health Records to Test Multimorbidity Influences to Plasma Biomarker Interpretation for Alzheimer's Disease

Annals of Neurology, EarlyView.
Objective Plasma biomarkers of Alzheimer's disease (AD) pathology are frequently tested in specialized research settings, which limits the generalizability of findings. Using electronic health records and banked plasma, we evaluated plasma biomarkers—phosphorylated tau 217 (p‐tau217), β‐amyloid 1–42/1–40 (Aβ42/Aβ40) and p‐tau217/Aβ42—in a real‐world ...
Katheryn A.Q. Cousins, Rory Boyle, Colleen Morse, Anurag Verma, Christopher A. Brown, Kyra S. O'Brien, Marina Serper, Nadia Dehghani, Penn Medicine BioBank, Corey T. McMillan, Edward B. Lee, Leslie M. Shaw, David A. Wolk   +12 more
wiley   +1 more source