QARS1 associated developmental epileptic encephalopathy: first report of a rare homozygous missense variant from Pakistan causing nonepileptic phenotype in a family of seven patients and a comprehensive review of the literature. [PDF]
Mol Biol RepAhmad R, Naeem M, Houlden H.
europepmc +1 more source
The FEBS Journal, EarlyView.Variants at position R196 in cytoskeletal β‐actin are the most common variants associated with Baraitser–Winter cerebrofrontofacial syndrome and result in craniofacial anomalies and neurodevelopmental disorders, most likely due to neuronal migration defects. This study explores the molecular mechanisms of p.R196 variants using purified proteins.
Johannes N. Greve, Dietmar J. Manstein
wiley +1 more source
Heredity of Microcephaly Mental Retardation and Spastic Diplegia Syndrome
, 1995 Dilara Süleymanova +6 more
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Microcephaly-cardiomyopathy syndrome: expansion of the phenotype [PDF]
, 2003 Kerstin Becker
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Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome. [PDF]
Cell Commun SignalHuang L, Wang Y, Zhang Y, Fu H, Mao J.
europepmc +1 more source
Transcription‐coupled repair: tangled up in convoluted repair
The FEBS Journal, EarlyView.In this review, we discuss recent findings derived from diverse genomic, biochemical and structural, imaging, and functional studies (B–E) that culminated in deep mechanistic insight (A) into the vital cellular process of transcription‐coupled nucleotide excision repair (TC‐NER).
Diana A. Llerena Schiffmacher +3 more
wiley +1 more source
Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review. [PDF]
BMC PediatrWei J, Zhao G, Li L, Liu C, Li J.
europepmc +1 more source
Type I interferon signalling and interferon‐responsive microglia in health and disease
The FEBS Journal, EarlyView.Recent insights reveal that type I interferon (IFN‐I) signalling plays critical roles in the nervous system beyond antiviral defence. Dysregulated IFN‐I activity is increasingly linked to neurological dysfunction and neurodegeneration, with microglia as central mediators. This review explores the broader impact of IFN‐I signalling on the nervous system
Jose P. Lopez‐Atalaya +1 more
wiley +1 more source
A Case-Control Etiologic Study of Microcephaly
, 2000 Ghada M. H. Abdel‐Salam, A. Czeizel
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A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly [PDF]
, 2004 Bruno Pichon +4 more
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