ReviewJournal of musculoskeletal & neuronal interactions2015
Skeletal muscle and motor deficits in Neurofibromatosis Type 1.
Review in Journal of musculoskeletal & neuronal interactions, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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, 1 synthesis or guideline pooled it.
- Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.Molecular psychiatry · 2025Pooled it
- L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.American journal of medical genetics. Part A · 2021Trial
- Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.PLoS genetics · 2026Article
- Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2.Epigenomes · 2025Review
- Article
- TGF-β superfamily-induced transcriptional activation pathways establish the RAD52-dependent ALT machinery during malignant transformation of MPNSTs.Scientific reports · 2024Article
- Unraveling neuronal and metabolic alterations in neurofibromatosis type 1.Journal of neurodevelopmental disorders · 2024Review
- RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development.Disease models & mechanisms · 2024Review
- Neurofibromin 1 controls metabolic balance and Notch-dependent quiescence of murine juvenile myogenic progenitors.Nature communications · 2024Article
- Article
- Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study.Orphanet journal of rare diseases · 2022Article
- Burden Among Caregivers of Pediatric Patients with Neurofibromatosis Type 1 (NF1) and Plexiform Neurofibroma (PN) in the United States: A Cross-Sectional Study.Neurology and therapy · 2022Article
- Clinical and humanistic burden among pediatric patients with neurofibromatosis type 1 and plexiform neurofibroma in the USA.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Article
- Improved renal function in neurofibromatosis type 1 patients.Skin health and disease · 2022Article
- Longitudinal Investigation of Early Motor Development in Neurofibromatosis Type 1.Journal of pediatric psychology · 2022Article
- Review
- Are Children Suffering From Congenital Pseudarthrosis of the Tibia Associated With Decreased Bone Strength?Frontiers in pediatrics · 2022Article
- Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2.Neurology · 2021Article
- Cell autonomous requirement of neurofibromin (Nf1) for postnatal muscle hypertrophic growth and metabolic homeostasis.Journal of cachexia, sarcopenia and muscle · 2020Article
- An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research domains.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis Type 1 (NF1) is a genetic neurocutaneous disorder with multisystem manifestations, including a predisposition to tumor formation and bone dysplasias. Studies over the last decade have shown that NF1 can also be associated with significant motor deficits, such as poor coordination, low muscle tone, and easy fatigability. These have traditionally been ascribed to developmental central nervous system and cognitive deficits. However, recent preclinical studies have also illustrated a primary role for the NF1 gene product in muscle growth and metabolism; these findings are consistent with clinical studies demonstrating reduced muscle size and muscle weakness in individuals with NF1. Currently there is no evidence-based intervention for NF1 muscle and motor deficiencies; this review identifies key research areas where improved mechanistic understanding could unlock new therapeutic options.
Indexed as
Identifiers
26032208PMC5133719What Socratic 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 Socratic graph.