ReviewNeural plasticity2017
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.
Review in Neural plasticity, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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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.
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Who cites it
16 citing papers in PubMed, 32 citations in OpenAlex.
- Article
- Spinal motor neuron development and metabolism are transcriptionally regulated by nuclear factor IA.Science advances · 2025Article
- Floppy Infant with Tongue Fasciculations: Not Always Spinal Muscular Atrophy.Indian journal of pediatrics · 2024Article
- Review
- Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- The Anti-Inflammatory Effects and Mechanism of the Submerged Culture ofJournal of fungi (Basel, Switzerland) · 2024Article
- Association of TRMT2B gene variants with juvenile amyotrophic lateral sclerosis.Frontiers of medicine · 2024Article
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children.Journal of pediatric genetics · 2022Article
- Approach to the child with fatigue: A focus for the general pediatrician.Frontiers in pediatrics · 2022Article
- Coenzyme Q10 a mitochondrial restorer for various brain disorders.Naunyn-Schmiedeberg's archives of pharmacology · 2021Review
- Neurodegeneration and axonal mRNA transportation.American journal of neurodegenerative disease · 2021Review
- Autophagy Modulation as a Treatment of Amyloid Diseases.Molecules (Basel, Switzerland) · 2019Review
- Targeted intraspinal injections to assess therapies in rodent models of neurological disorders.Nature protocols · 2019Article
- Neuromuscular Diseases and Bone.Frontiers in endocrinology · 2019Review
- Early Infantile Onset Non-5q Spinal Muscular Atrophies: A Diagnostic Odyssey.Annals of Indian Academy of NeurologyArticle
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 at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses. In turn, improved genetic technology and subsequent gene identification have enabled further insights into the mechanisms of motor neuron degeneration and how these diseases form part of a neurodegenerative disorder spectrum. Common pathophysiologies include abnormalities in axonal architecture and function, RNA processing, and protein quality control. This review incorporates an overview of the clinical manifestations, genetics, and pathophysiology of inherited paediatric motor neuron disorders beyond classic SMN1-related spinal muscular atrophy and describes recent advances in next generation sequencing and its clinical application. Specific disease-modifying treatment is becoming a clinical reality in some disorders of the motor neuron highlighting the importance of a timely and specific diagnosis.
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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.