ArticleNeuromuscular disorders : NMD2011
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.
Article in Neuromuscular disorders : NMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Exploring the relationship betweenFrontiers in neuroscience · 2023Pooled it
- Validation of the Pathogenic Effect ofInternational journal of molecular sciences · 2022Article
- Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency.Journal of pediatric intensive care · 2018Article
- Clinical diversity caused by novel IGHMBP2 variants.Journal of human genetics · 2017Article
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Molecular genetics and metabolism · 2016Article
- Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.Journal of cellular and molecular medicine · 2015Review
- The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.Nucleic acids research · 2012Article
- Heterogeneity in spinal muscular atrophy with respiratory distress type 1.Journal of pediatric neurosciences · 2012Article
- The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.Clinical neuropathologyArticle
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Spinal muscular atrophy with respiratory distress (SMARD1) presents within the first 13months of age with low birth weight, progressive length dependent motor neuropathy, and respiratory failure from diaphragmatic paralysis. SMARD1 is caused by mutations in IGHMBP2, encoding the immunoglobulin μ-binding protein 2. Because of the severity of the disorder, many infantile-onset SMARD1 patients do not live past the first decade of life. This report documents the clinical course of a 20-year-old man diagnosed with SMARD1.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.