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UnknownEstablishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.
Not available
S-EPMC5403612 | biostudies-literature
UnknownSMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
Not available
S-EPMC4521962 | biostudies-literature
UnknownDe novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
Not available
S-EPMC6005789 | biostudies-literature
UnknownAn expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy.
Not available
S-EPMC9186129 | biostudies-literature
UnknownAlternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Not available
S-EPMC4440742 | biostudies-literature
UnknownClinical and genetic characterization of manifesting carriers of DMD mutations.
Not available
S-EPMC2944769 | biostudies-literature
UnknownNusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.
Not available
S-EPMC7127286 | biostudies-literature
UnknownRasch analysis of clinical outcome measures in spinal muscular atrophy.
Not available
S-EPMC4376296 | biostudies-literature
UnknownRecruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!
Not available
S-EPMC6072892 | biostudies-literature
UnknownCorrection: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Not available
S-EPMC4554723 | biostudies-literature
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