Despite similarities in race, ethnicity, household income, and SMN2 copy number between those who ... and 70 caregivers who reported appeals, 84.8% and 75.7% were successful.

The early to mid-stage dose-ranging study evaluated the safety and efficacy of the candidate in patients with SMA with three copies of SMN2 aged 6 ... has improved from $8.12 to $8.27.

These regions contain hundreds of genes critical to human health—including those implicated in spinal muscular atrophy (SMN1/SMN2), congenital ... a functional CYP21A2 copy and a CYP21A2(Q319X ...

Paraphase enhances high-precision variant detection and copy number analysis in segmental ... implicated in spinal muscular atrophy (SMN1/SMN2), congenital adrenal hyperplasia (CYP21A2), and ...

Most adolescents and adults with SMA have normal sensory nerve function, even those with long-lasting disease, a study finds.

Either way, some of these carbon copies will make you think you ate one too many truffles before heading out for a stroll in a cosy, Dutch neighbourhood. Perhaps the most surreal of all copycat towns ...

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More recently, while Final Fantasy 7 Remake sold 8.7m copies, both follow-up Rebirth and the next series entry Final Fantasy 16 "did not meet expectations" according to Square Enix. Still ...

Parsons emphasizes the importance of shared decision-making, patient-specific considerations such as SMN2 copy number and treatment compliance, and the ongoing efforts to refine care guidelines as ...