Last Updated: 09/26/2026
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Found 40 publications
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.
Journal: Annals of clinical and translational neurology
Published: February 04, 2026
An inherited hypomorphic variant in PIEZO2 reveals structural features of mechanotransduction.
Journal: Neuron
Published: September 29, 2025
Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program.
Journal: Human gene therapy
Published: February 20, 2025
T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN).
Journal: Muscle & nerve
Published: December 02, 2024
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Journal: Brain : a journal of neurology
Published: October 03, 2024
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
Journal: Annals of clinical and translational neurology
Published: May 21, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Journal: medRxiv : the preprint server for health sciences
Published: April 08, 2024
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
Journal: The New England journal of medicine
Published: March 20, 2024
PIEZO2-dependent rapid pain system in humans and mice.
Journal: bioRxiv : the preprint server for biology
Published: January 03, 2024
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
Journal: HGG advances
Published: November 09, 2023
A Severe Reaction After Phototherapy in a Neonate With X-Linked Protoporphyria.
Journal: Pediatrics
Published: October 25, 2023
Last Updated: 09/26/2026