ReviewAJNR. American journal of neuroradiology2017
Neuroimaging Changes in Menkes Disease, Part 1.
Review in AJNR. American journal of neuroradiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 56 citations in OpenAlex.
- Don't miss this treatable neurogenetic disease!Pediatric radiology · 2026Review
- Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.Developmental medicine and child neurology · 2025Review
- Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.American journal of medical genetics. Part A · 2025Article
- Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.Brain communications · 2025Article
- Two Cases of Menkes Disease With Similar Intracranial Arterial Tortuosity on Brain Magnetic Resonance Imaging.Cureus · 2024Article
- Brain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review.BMC pediatrics · 2024Review
- Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.Journal of clinical medicine · 2023Article
- Almost misdiagnosed Menkes disease: A case report.Heliyon · 2022Article
- The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.International journal of molecular sciences · 2022Review
- Menkes disease diagnosed by aTranslational pediatrics · 2021Article
- Abusive head trauma: neuroimaging mimics and diagnostic complexities.Pediatric radiology · 2021Review
- Genetic causes of fractures and subdural hematomas: fact versus fiction.Pediatric radiology · 2021Review
- LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.Neurology. Genetics · 2021Article
- Perampanel treatment in Early-onset Epileptic Encephalopathy with infantile movement disorders associated with a de novo GRIN1 gene mutation: a 3-year follow-up.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.Molecular genetics and metabolism · 2021Review
- Review
- Genomics and Radiogenomics in Inherited Neurometabolic Disorders - A Practical Primer for Pediatricians.Indian journal of pediatrics · 2019Review
- Inborn errors of metabolism.Handbook of clinical neurology · 2019Review
- Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.Cell systems · 2018Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 12 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.
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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.