The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
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DOI: 10.1002/ana.27272
Abstract: A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report… read more here.
Keywords: associated nus1; neurologic phenotypes; nus1 pathogenic; spectrum neurologic ... See more keywords
New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants
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DOI: 10.1002/jdn.70019
Abstract: Pathogenic variants in nine genes (AGS1‐9) were mainly reported in patients with Aicardi–Goutières syndrome (AGS), which is a genetic disorder of the innate immune response associated with improper induction of Type I interferon (IFN). These… read more here.
Keywords: pathogenic rnaseh2b; samhd1; phenotypes associated; new phenotypes ... See more keywords
Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases
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DOI: 10.1007/s10072-018-3300-y
Abstract: Up to now, SCN9A mutations encoding Nav1.7 have been limited to inherited pain syndromes. A few of pathogenic SCN9A mutations with or without SCN1A mutations have been identified in epileptic patients. Here, we report two… read more here.
Keywords: variable epilepsy; scn9a mutations; epilepsy phenotypes; report two ... See more keywords
Structure-Function Studies of the Bacillus subtilis Ric Proteins Identify the Fe-S Cluster-Ligating Residues and Their Roles in Development and RNA Processing
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DOI: 10.1128/mbio.01841-19
Abstract: The RicA, RicF, and RicT proteins are widely conserved among the firmicute bacteria and play multiple roles in Bacillus subtilis. Among the phenotypes associated with the inactivation of these proteins are the inability to be… read more here.
Keywords: ric proteins; bacillus subtilis; phenotypes associated; ricf ... See more keywords
Neurologic phenotypes associated with COL4A1/2 mutations
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DOI: 10.1212/wnl.0000000000008787
Abstract: In the article “Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease” by Zagaglia et al.,1 the text for “3/M, 5 years” under the “Mutation Gene” column in supplementary table 3a should read… read more here.
Keywords: neurologic phenotypes; col4a1 mutations; phenotypes associated; associated col4a1 ... See more keywords
Behavioural, psychiatric, and cognitive phenotypes associated with numbers of repeats of the FRAXE allele on the FMR2 gene
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DOI: 10.12688/wellcomeopenres.21305.2
Abstract: Background The FRAXE site on the X-chromosome has a variable number of trinucleotide repeats. The rare condition Fragile XE has >200 repeats, but most X chromosomes have read more here.
Keywords: cognitive phenotypes; psychiatric cognitive; phenotypes associated; numbers repeats ... See more keywords
Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2020.591501
Abstract: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant inherited tumor syndrome, associated with parathyroid, pituitary, and gastro-entero-pancreatic (GEP) neuroendocrine tumors (NETs). MEN1 is usually consequent to different germline and somatic mutations of… read more here.
Keywords: associated men1; genotype phenotype; genotype; men1 syndrome ... See more keywords