Last Updated: 09/26/2026
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Found 7 publications
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.
Journal: Annals of clinical and translational neurology
Published: February 04, 2026
Emerging Upper Extremity Muscle Ultrasound Patterns as a Diagnostic Aid in TTN-Related Myopathies.
Journal: Muscle & nerve
Published: June 23, 2025
Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Journal: Brain : a journal of neurology
Published: April 17, 2025
Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Journal: Brain : a journal of neurology
Published: April 17, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
Journal: Annals of clinical and translational neurology
Published: May 21, 2024
An Opportune Time for Newborn Screening in Duchenne Muscular Dystrophy.
Journal: JAMA neurology
Published: June 21, 2021
Bilateral Hippocampal Infarction following Thrombectomy for Basilar Occlusion.
Journal: Annals of neurology
Published: September 27, 2020
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Last Updated: 09/26/2026