ArticleAmerican journal of human genetics1999
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 82 citations in OpenAlex.
- The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.Neurobiology of disease · 2025Article
- Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.Experimental neurology · 2025Article
- Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.Genes · 2024Review
- Article
- Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders.Neurological research and practice · 2022Review
- A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.Journal of neuromuscular diseases · 2022Article
- Defining the optimal dose and therapeutic window in SMA with respiratory distress type I model mice, FVB/NJ-Molecular therapy. Methods & clinical development · 2021Article
- Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).Cellular and molecular life sciences : CMLS · 2020Review
- Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.Brain research · 2020Review
- Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.Journal of cellular and molecular medicine · 2020Review
- Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd.Biochemical and biophysical research communications · 2019Article
- Muscle fiber-type selective propensity to pathology in the nmd mouse model of SMARD1.Biochemical and biophysical research communications · 2019Article
- Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1.Journal of Korean medical science · 2019Article
- IGHMBP2 mutation associated with organ-specific autonomic dysfunction.Neuromuscular disorders : NMD · 2018Article
- A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1.Molecular therapy. Methods & clinical development · 2018Article
- Selective vulnerability in neuronal populations in nmd/SMARD1 mice.Human molecular genetics · 2018Article
- Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
- Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.Journal of cellular and molecular medicine · 2015Review
- Unraveling the genetics of distal hereditary motor neuronopathies.Neuromolecular medicine · 2006Review
- Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.Human genetics · 2004Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
What OpenQuestion holds
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.