Skip to content
Log in
Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

H. Houlden

h-index 20 View on Semantic Scholar

We have 4 of 200 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Sep 2026

Expanding the clinical and genetic spectrum of biallelic MYO18B pathogenic variants in congenital myopathy.

MYO18B is an unconventional class XVII myosin that is predominantly expressed in muscle and heart tissue. Recessive pathogenic MYO18B variants cause a rare myopathy associated with Klippel-Feil syndrome (KFS), facial dysmorphism, short stature and less frequently cardiomyopathy. Reported neuromuscular manifestations we...

I. Zaharieva, S. Donkervoort, Cheryl Longman et al. · 0 citations
#protein folding Open access Oct 2026

CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.

The authors' findings reveal separable effects on TLR trafficking, downstream signalling and inflammasome activation, identifying CNPY3 as a key regulator of multiple cellular pathways involved in inflammatory responses and neurodevelopment.

Vera Garloff, M. Grimmel, R. Maroofian et al. · 0 citations
Sep 2026

PABPN1 pathogenic expansion in the UK Biobank: reframing genetic prevalence of oculopharyngeal muscular dystrophy.

BACKGROUND Oculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset, mostly autosomal dominant muscular dystrophy caused by a trinucleotide GCN repeat expansion in PABPN1. OPMD affects approximately 1:100 000 individuals in Europe, with substantially higher prevalence in specific founder populations. Pathogenic...

C. Villella, Delia Gagliardi, Enrico Sebastiani et al. · 0 citations
Open access Aug 2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone, and movement abnormalities

The data establish BHLHE22 as a previously unrecognized neurodevelopmental disease gene that results in a distinct syndrome characterised by abnormalities in brain development, cognition, tone and movement.

Carolyn Le, T. Kalaycı, Z. Uyguner et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.