Results 211 to 220 of about 3,268,379 (302)

Identification of the Down Syndrome Critical Region 3 Gene as a Mammalian Cell Size Regulator. [PDF]

Genes Cells
Kimura K, Souda M, Mori R, Kato Y, Kurahashi H, Asai M, Yamamoto K.   +6 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Anticholinergic Burden in Individuals with Down Syndrome: An Examination of Risk and Clinical Implications. [PDF]

J Pers Med
Villani ER, Liperoti R, Franza L, Secciani FM, Di Paola A, Onder G, Carfì A.   +6 more
europepmc   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

Frequency of mixed neuropathologies in individuals with down syndrome with and without Alzheimer's dementia. [PDF]

Acta Neuropathol
Flores-Aguilar L, Zaikos TD, Rivera I, Wright ST, Lou J, Gawronski B, Gonzalez L, Berry JV, Rouanet J, Edwards NC, Hoang DK, Wood K, Granholm AC, Mufson EJ, Monuki ES, Ikonomovic MD, Kofler J, Doran EW, Lott IT, Totoiu MO, Hom CL, Lai F, Yong WH, Schmitt FA, Harp J, Nelson PT, Gutierrez J, Lao PJ, Wilcock DM, Brickman AM, Head E, Alzheimer’s Biomarker Consortium-Down syndrome (ABC-DS).   +31 more
europepmc   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

The Down Syndrome Profile Emerges Gradually Across Early Development. [PDF]

J Appl Res Intellect Disabil
D'Souza H, Karmiloff-Smith A, Mareschal D, Thomas MSC.   +3 more
europepmc   +1 more source

Endothelial Cell Proteins as Biomarkers in Susac Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin, Yue Andy Qi, Ying Hao, Catherine DeMarino, Samuel Darko, Irene Cortese, Daniel S. Reich, María I. Gaitán, Steven Jacobson, Bridgett J. Billioux, Bryan Smith, Avindra Nath   +11 more
wiley   +1 more source

Metabolomic Profiles in Down Syndrome: A Scoping Review of Convergent and Context-Dependent Patterns. [PDF]

J Intellect Disabil Res
Gastélum Guerrero C, Guadrón Llanos AM, Calderón Zamora L, De la Herrán Arita AK, Cruz Narváez Y, Duarte de la Peña G, Magaña Gómez JA.   +6 more
europepmc   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source