P. Mohassel

机构：National Institute of Neurological Disorders and Stroke

发表论文 6 篇 · 总被引 1 次 · h-index 1

代表论文

• P.155 Recurring homozygous ACTN2 variant (p.Arg506Gly) cause a recessive, adult-onset myofibrillar myopathy (2022 · Neuromuscular Disorders · 被引 1)
• 134PCharacterization of a novel deep intronic COL6A1 c.930+176C>T splice activation variant causing COL6-related dystrophy (2025 · Neuromuscular Disorders)
• 542P INSPIRE-IBM: an NIH-funded, two-year, multicenter, observational study in inclusion body myositis (IBM)-an update (2024 · Neuromuscular Disorders)
• 10P Characterization of the severe phenotype of COL6-related dystrophy due to the recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T (2024 · Neuromuscular Disorders)
• 564P Investigating motor and bulbar severity in NT5c1A seropositive and seronegative IBM participants in the INSPIRE-IBM trial (2024 · Neuromuscular Disorders)
• P416 Systemic NAD+ deficiency reveals a potential therapeutic target for RYR1-related myopathies (2023 · Neuromuscular Disorders)