Last Updated: 09/26/2026
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Found 76 publications
Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction.
Journal: European journal of neurology
Published: April 10, 2026
MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.
Journal: Neuromuscular disorders : NMD
Published: October 24, 2025
Clinically discordant siblings with spinal muscular atrophy: insights from their patient-specific iPSC-derived motor neurons and literature review.
Journal: Neuromuscular disorders : NMD
Published: July 25, 2025
The spectrum of neuromuscular diseases with tubular aggregates.
Journal: Neuromuscular disorders : NMD
Published: June 24, 2025
Clinical Manifestations and Treatment Responses in Pediatric Neurofascin 155-IgG4 Autoimmune Nodopathy.
Journal: Neurology(R) neuroimmunology & neuroinflammation
Published: January 17, 2025
Immune-Mediated Megaconial Myopathy: A Novel Subtype of Autoimmune Myopathy.
Journal: Neurology
Published: October 30, 2024
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia.
Journal: Neurology. Genetics
Published: June 10, 2024
Myopathy With Crescent of Nuclei: A Novel Histopathologic Finding in Desminopathy.
Journal: Journal of clinical neuromuscular disease
Published: May 21, 2024
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Journal: Journal of translational medicine
Published: April 30, 2024
Last Updated: 09/26/2026