Spinal Muscular Atrophy (sma): - Neonatal Disorders

Relevant Publications

Muscular MRI and magnetic resonance neurography in spinal muscular atrophy.

Issue Release: 2024

Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.

Issue Release: 2024

Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort.

Issue Release: 2024

Treatment Options in Spinal Muscular Atrophy: A Pragmatic Approach for Clinicians.

Issue Release: 2024

Gene therapy for CNS disorders: modalities, delivery and translational challenges.

Issue Release: 2024

Improvement in functional motor scores in patients with non-ambulatory spinal muscle atrophy during Nusinersen treatment in South Korea: a single center study.

Issue Release: 2024

Diving deep: zebrafish models in motor neuron degeneration research.

Issue Release: 2024

Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons.

Issue Release: 2024

The Impact of Nusinersen and Risdiplam on Motor Function for Spinal Muscular Atrophy Type 2 and 3: A Meta-Analysis.

Issue Release: 2024

Metabolic syndrome is common in adults with 5q-spinal muscular atrophy and impacts quality of life and fatigue.

Issue Release: 2024

[Experience with the use of risdiplam in a familial case of spinal muscular atrophy 5q in patients with a homozygous deletion of the SMN1 gene and the same copy number of the SMN2 gene].

Issue Release: 2024

Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?

Issue Release: 2024

What could be the function of the spinal muscular atrophy-causing protein SMN in macrophages?

Issue Release: 2024

Improved therapeutic approach for spinal muscular atrophy via ubiquitination-resistant survival motor neuron variant.

Issue Release: 2024

Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.

Issue Release: 2024

Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.

Issue Release: 2024

Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women.

Issue Release: 2024

Nusinersen Initiation After Onset of Weakness Does Not Prevent Progression of Hip Instability.

Issue Release: 2024

JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam.

Issue Release: 2024

Adherence and Persistence Among Risdiplam-Treated Individuals with Spinal Muscular Atrophy: A Retrospective Claims Analysis.

Issue Release: 2024

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