Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

International journal of molecular sciences - 21 Aug 2021

Costa-Roger Mar, Blasco-Pérez Laura, Cuscó Ivon, Tizzano Eduardo F

Abstract excerpt

After 26 years of discovery of the determinant survival motor neuron 1 and the modifier survival motor neuron 2 genes (SMN1 and SMN2, respectively), three SMN-dependent specific therapies are already approved by FDA and EMA and, as a consequence, worldwide SMA patients are currently under clinical investigation and treatment. Bi-allelic pathogenic variants (mostly deletions) in SMN1 should be detected in SMA...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Anomalies and Fetal Surgery
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Targeted Therapy

Share to Muscular Atrophy, Spinal

Share to Neurogenetic and Muscular Disorders Research

Share to RNA modifications and cancer

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 34445733
DOI: 10.3390/ijms22169029
PMCID: PMC8396600

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.PMID 34445733Read ↗

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.Semantic proximity Read ↗

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.Semantic proximity Read ↗

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.Semantic proximity Read ↗

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophySemantic proximity Read ↗

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesSemantic proximity Read ↗

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.Semantic proximity Read ↗

Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.Semantic proximity Read ↗

NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy.Semantic proximity Read ↗

Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.Semantic proximity Read ↗

Spinal muscular atrophy: from gene discovery to clinical trials.Semantic proximity Read ↗

Spinal muscular atrophy with five SMN2 copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions.Semantic proximity Read ↗

In Search of Spinal Muscular Atrophy Disease ModifiersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.