Results 151 to 160 of about 165,525 (264)

Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation. [PDF]

Commun Biol, 2021
Stavsky A, Stoler O, Kostic M, Katoshevsky T, Assali EA, Savic I, Amitai Y, Prokisch H, Leiz S, Daumer-Haas C, Fleidervish I, Perocchi F, Gitler D, Sekler I.   +13 more
europepmc   +1 more source

Heterogeneity of Response to Early Start Denver Model: Identifying Developmental Trajectories and Predictors of Cognitive Outcomes

Autism Research, EarlyView.
ABSTRACT Autism is a highly heterogenous neurodevelopmental condition that can significantly compromise the quality of life. For children showing atypical trajectories of development in their early years, early and intensive intervention has shown promise in enhancing the development of language, cognition, and social skills. Yet, marked variability in
I. Ilaridou, N. Kojovic, T. Chataing, K. Latrèche, F. Journal, S. Akhavan, C. Sandini, M. Schaer   +7 more
wiley   +1 more source

G-quadruplex stabilizer CX-5461 effectively combines with radiotherapy to target α-thalassemia/mental retardation X-linked-deficient malignant glioma. [PDF]

Neuro Oncol
Dharmaiah S, Malgulwar PB, Johnson WE, Chen BA, Sharin V, Whitfield BT, Alvarez C, Tadimeti V, Farooqi AS, Huse JT.   +9 more
europepmc   +1 more source

Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3). [PDF]

Genes (Basel), 2023
Thompson MD, Li X, Spencer-Manzon M, Andrade DM, Murakami Y, Kinoshita T, Carpenter TO.   +6 more
europepmc   +1 more source

Visual Responsivity in Autism: Measuring Visual Responses in Autistic and Non‐Autistic Adults Using Psychophysics, fMRI, and EEG

Autism Research, EarlyView.
ABSTRACT Autistic individuals frequently report heightened sensitivity to visual stimuli, often described as discomfort in environments with bright or flickering lights. These experiences are hypothesized to reflect underlying differences in sensory gain or neural hyperexcitability; however, findings across studies have yielded mixed results, likely ...
Daniela L. Seczon, Kristin M. Woodard, Tamar Kolodny, Hannah M. Rea, Mark Pettet, Sara Jane Webb, Scott O. Murray   +6 more
wiley   +1 more source

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect. [PDF]

Mol Syndromol
Küçükçongar Yavaş A, Özbey SZ, Ergin B, Ünal Y, Bilginer Gürbüz B, Karaatmaca B, Özyürek H, Oflaz O, Basan H, Kasapkara ÇS.   +9 more
europepmc   +1 more source

CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature. [PDF]

Medicine (Baltimore), 2021
Kang Q, Yang L, Liao H, Wu L, Chen B, Yang S, Kuang X, Yang H, Liao C.   +8 more
europepmc   +1 more source

Cost–benefit analysis of screening programme for diabetic retinopathy in Bulgaria

British Journal of Clinical Pharmacology, EarlyView.
Aims Late‐diagnosed diabetic retinopathy (DR) is difficult and expensive to treat. Screening programmes can identify the disease early and reduce the costs of its future treatment. This study aims to analyse the cost–benefit of screening programmes for DR.
Iva Nenkova, Yoana Lilova, Alexander Oscar, Alina Levi, Maria Kamusheva, Guenka Petrova   +5 more
wiley   +1 more source

Alpha thalassemia/mental retardation X-linked (ATRX) protein expression in human pituitary neuroendocrine tumours and its reported correlation to prognosis and clinical outcomes: A systematic review. [PDF]

PLoS One
Wang E, Rotondo F, Cusimano MD.
europepmc   +1 more source

Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation. [PDF]

Commun Biol, 2021
Stavsky A, Stoler O, Kostic M, Katoshevsky T, Assali EA, Savic I, Amitai Y, Prokisch H, Leiz S, Daumer-Haas C, Fleidervish I, Perocchi F, Gitler D, Sekler I.   +13 more
europepmc   +1 more source