Author

M. Zaki

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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. · Neuromuscular Disorders · 0 citations

Open access Sep 2026

AAV-mediated CBLN1 replacement rescues hereditary ataxia caused by biallelic CBLN1 variants.

These findings establish CBLN1 deficiency as a cause of hereditary ataxia and identify extracellular CBLN1 replacement as a therapeutic strategy for a reversible cerebellar synaptopathy.

Tokiwa Yamasak, W. Kakegawa, Ayumi Hayashi et al. · Molecular Therapy · 0 citations

Open access Jul 2026

Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families

The clinical spectrum of TUBB2B-related tubulinopathies is expanded, phenotypic heterogeneity is illustrated, and insights into disease mechanisms including effects at polyamination sites and rare recessive inheritance are provided, underscoring the need for nuanced genotype-phenotype interpretation in diagnostic and c...

Shaghayegh T Beheshti, Angad Jolly, Ahmed K Saad et al. · HGG advances · 0 citations