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

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.

Journal of cellular and molecular medicine - 1 Jan 2020

Saladini Matteo, Nizzardo Monica, Govoni Alessandra, Taiana Michela, Bresolin Nereo, Comi Giacomo P, Corti Stefania

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which encodes immunoglobulin μ-binding protein 2, leading to progressive spinal motor neuron degeneration. We review the data available in the literature about SMARD1. The vast majority of patients show an onset of typical symptoms in the first year of...

Read the complete abstract on PubMed

Topics

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

Share to DNA-Binding Proteins
Share to Molecular Targeted Therapy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

Share to Mutation

Share to Neurogenetic and Muscular Disorders Research

Share to Prognosis

Share to Respiratory Distress Syndrome, Newborn

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 31802621
DOI: 10.1111/jcmm.14874
PMCID: PMC6991628

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.PMID 31802621Read ↗

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1Semantic proximity Read ↗

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.Semantic proximity Read ↗

Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1)Semantic proximity Read ↗

The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.Semantic proximity Read ↗

Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.Semantic proximity Read ↗

Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.Semantic proximity Read ↗

Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1.Semantic proximity Read ↗

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.Semantic proximity Read ↗

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.Semantic proximity Read ↗

An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).Semantic proximity Read ↗

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.Semantic proximity Read ↗

Growing up with spinal muscular atrophy with respiratory distress (SMARD1).Semantic proximity Read ↗

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