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View article: Heterozygous and Homozygous <i>RFC1 AAGGG</i> Repeat Expansions are Common in Idiopathic Peripheral Neuropathy
Heterozygous and Homozygous <i>RFC1 AAGGG</i> Repeat Expansions are Common in Idiopathic Peripheral Neuropathy Open
Objective Biallelic intronic AAGGG repeat expansions in RFC1 cause Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome and may also contribute to isolated sensory neuropathy. The clinical significance of both heterozygous a…
View article: Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats
Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats Open
A GGGGCC (G4C2) hexanucleotide repeat expansion in C9ORF72 causes amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), while a CGG trinucleotide repeat expansion in FMR1 leads to the neurodegenerative disorder Fragile X-a…
Constructing an Individualized Middle Cerebral Artery Model Using 3D Printing and Hydrogel for Bypass Training Open
The importance and complexity of cerebral bypass surgery (CBS) highlight the necessity for intense and dedicated training. Several available training models are yet to satisfy this need. In this technical note, we share the steps to constr…
Using Immersive Technologies to Develop Medical Education Materials
Open
Principles of modern surgical education for clerkship and residency were established by the novel approaches of Sir William Osler, MD, Flexner report, and Halsted's principles. The evaluation of surgical education has continued to benefit …