Results 211 to 220 of about 879,135 (289)

A case report of a novel <i>de novo</i> variant in <i>PPP2CA</i> causing a neurodevelopmental disorder and epilepsy. [PDF]

Front Psychiatry
Xu L, Shen Y, Zhang G.
europepmc   +1 more source

Clinical heterogeneity and diagnostic challenges in <i>CASK</i>-related neurodevelopmental disorders: a longitudinal observational study. [PDF]

Front Psychiatry
Pacheva IH, Timova E, Todorov T, Sotkova I, Gaberova K, Yordanova R, Tzvetanova T, Galabova F, Ivanova N, Todorova A.   +9 more
europepmc   +1 more source

Prevalence of Breastfeeding in Infants With Down Syndrome: A Systematic Review and Meta‐Analysis

Acta Paediatrica, Volume 115, Issue 10, Page 2063-2077, October 2026.
ABSTRACT Aim To estimate the prevalence of breastfeeding—overall, exclusive, partial and depending on infants' age—in infants with Down syndrome, and to investigate associated factors. Methods A systematic literature search was conducted in Medline, Cochrane Library, Web of Science, Embase, CINAHL and SciELO up to 1 August 2024.
Mélina Balland, Julia Prillard, Irène Loras‐Duclaux, Caroline Giroudon, Amélie Zelmar, Damien Sanlaville, Mikail Nourredine   +6 more
wiley   +1 more source

A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis. [PDF]

HGG Adv
Narkis G, Dolgin V, Sued-Hendrickson S, Zahran J, Kanengisser-Pines B, Smooha-Schechter G, Carmon L, Shorer Z, Michaelovsky A, Birk OS.   +9 more
europepmc   +1 more source

Inhibition of leucine‐rich kinase 2 (LRRK2) promotes peripheral axon regeneration via phosphorylation‐network remodelling

British Journal of Pharmacology, Volume 183, Issue 20, Page 6199-6224, October 2026.
Background and Purpose In contrast to neurons in the central nervous system, neurons in the peripheral nervous system can regenerate axons after injury via activation of a pro‐regenerative transcriptional programme. Pathogenic mutations in leucine‐rich repeat kinase 2 (LRRK2) are the most common genetic cause of Parkinson's disease, and several small ...
Eun‐Hae Jang, Eun Mo Yang, Gil Song, Seung Min Park, Harryn Choi, Jaeyong Kim, Chanil Kim, Yunho Gim, Hyuk‐Joo Jeon, Yewon Cho, Jong Bae Park, Eun‐Mi Hur   +11 more
wiley   +1 more source

Thoracoabdominal Asynchrony in Healthy Children

Journal of Sleep Research, Volume 35, Issue 5, October 2026.
ABSTRACT Measuring asynchrony between the thorax and abdomen during sleep provides information about inspiratory effort and upper airway obstruction in children, aiding in the diagnosis of obstructive sleep apnea (OSA). This study aimed to define a normative range for thoracoabdominal asynchrony (TAA) in healthy children by studying polysomnographies ...
Kristjan Dereksson, Sigrun Helga Lund, Agneta Markström, Sigridur Sigurdardottir, Erna Sif Arnardottir, Michael V. Clausen, Sigurveig T. Sigurdardottir, Tryggvi Helgason, Erik A. Eklund   +8 more
wiley   +1 more source

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, Volume 16, Issue 9, Page 1825-1839, September 2026.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1780-1790, September 2026.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome. [PDF]

Mol Cell Pediatr
Szumutku F, Lengyel A, Pinti É, Kun I, Németh K, Abonyi T, Gál F, Ryu SW, Song Y, Ujfalusi A, Kádár K, Jávorszky E, Tory K, Kis É, Goda V, Kriván G, Kovács ÁF, Haltrich I.   +17 more
europepmc   +1 more source