Results 271 to 280 of about 58,257 (335)

A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review. [PDF]

Front Genet
Aljedani H, Faden Y, Alghamdi M, Alzahrani A, Shawli A, Albakistani R.   +5 more
europepmc   +1 more source

A mutational hotspot in <i>TUBB2A</i> associated with impaired heterodimer formation and severe brain developmental disorders. [PDF]

Front Cell Neurosci
Di Pasquale G, Colella J, Di Cataldo CP, Soler MA, Fortuna S, Mizrahi-Powell E, Nizon M, Cognè B, Turchetti V, Mangano GD, Comisi FF, Cecchetti C, Giliberti A, Nardello R, Pavone P, Falsaperla R, Di Rosa G, Evrony GD, Delvecchio M, Severino M, Accogli A, Vittori A, Salpietro V.   +22 more
europepmc   +1 more source

Early detection of infants with neurodevelopmental concerns indicative of cerebral palsy in a lower middle‐income country (India)

Developmental Medicine &Child Neurology, Volume 67, Issue 12, Page 1554-1563, December 2025.
In this prospective sub‐study testing the predictive validity of General Movements Assessment (GMA) and/or Hammersmith Infant Neurological Examination (HINE), 785 infants with birth/infant‐detectable risk factors, aged 12 to 40 weeks corrected age were recruited. GMA and HINE were reliable and accurate tools for screening high‐risk populations in India,
Katherine A. Benfer, Asis K. Ghosh, Sayak Chowdhury, Golam Moula, Sandip Samanta, Pradip Maiti, Anjan Bhattacharya, Naila Zaman Khan, Koa Whittingham, Robert S. Ware, Cathy Morgan, Sasaka Bandaranayake, Iona Novak, Roslyn N. Boyd   +13 more
wiley   +1 more source

Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy. [PDF]

Cureus
Bhimanadham VM, Panicker GJ.
europepmc   +1 more source

Patient‐Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK

Journal of Neurochemistry, Volume 169, Issue 12, December 2025.
Variants in the X‐chromosomal gene coding for the calcium−/calmodulin dependent serine protein kinase (CASK) are associated with a neurodevelopmental disorder. CASK binds through its PDZ (PSD‐95, discs large, ZO‐1) domain to the PDZ ligand (black arrow) of presynaptic cell adhesion molecules of the Neurexin family.
Debora Tibbe, Hans‐Hinrich Hönck, Neha Bhatia, Tina Truong, Lydia Proskauer, Xilma Ortiz‐Gonzalez, Jean Ann Maguire, ChangHui Pak, Hans‐Jürgen Kreienkamp   +8 more
wiley   +1 more source

Brain organoids: a new paradigm for studying human neuropsychiatric disorders. [PDF]

Front Neurosci
Sun Y, Pan W.
europepmc   +1 more source

Temporal Dynamics of tsRNA Regulation Mark an Abrupt Transition After Epileptogenesis

Journal of Neurochemistry, Volume 169, Issue 12, December 2025.
Perforant pathway stimulation was used to induce epilepsy in rats to investigate temporal regulation by tRNA‐derived small RNAs (tsRNAs). Across key stages of epileptogenesis, Ago2‐bound small RNA‐Seq, transcriptomics, and proteomics were integrated. We found marked stage‐specific shifts in tsRNA abundance, with a pronounced transition at the Day of ...
Saad Zaheer, Sharada Baindoor, Niamh M. C. Connolly, Kai Siebenbrodt, Sebastian Bauer, Felix Rosenow, Jens S. Andersen, Morten T. Venø, Jørgen Kjems, David C. Henshall, Jochen H. M. Prehn   +10 more
wiley   +1 more source

Correction for Lin et al., BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. [PDF]

Proc Natl Acad Sci U S A
europepmc   +1 more source

Syngnathia and associated congenital anomalies in an infant: A case report. [PDF]

Int J Surg Case Rep
Mohammadi F, Modarresi ZS, Mehraban SH, Mousavi R.   +3 more
europepmc   +1 more source

Deep Brain Stimulation in a Child with Aicardi‐Goutières Syndrome‐7 (AGS7): A Case Report and Literature Review

Movement Disorders Clinical Practice, Volume 12, Issue 12, Page 2375-2378, December 2025.
Sangeetha Yoganathan, Siddharth Seth, Sunita Venkateswaran, Wei Kang Lim, Andrea LeBlanc‐Millar, Sara Breitbart, Vivek Pai, Asif Doja, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky   +10 more
wiley   +1 more source