Trial reportGenes2021
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
Trial report in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed, 15 citations in OpenAlex.
- The Diverse Neuromuscular Spectrum of VPS13A Disease.Annals of clinical and translational neurology · 2026Article
- The Clinical Burden of Inherited Neurometabolic Disorders in Adults-A Territorial Care Approach.Journal of clinical medicine · 2025Article
- A NovelInternational journal of molecular sciences · 2025Article
- Neurodegenerative and Neurodevelopmental Roles for Bulk Lipid Transporters VPS13A and BLTP2.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.Acta neuropathologica communications · 2025Article
- Novel Presentation of McLeod Syndrome With Muscle Weakness and Biopsy Findings Indicative of Mitochondrial Dysfunction.Journal of clinical neurology (Seoul, Korea) · 2025Article
- RareBrain communications · 2025Article
- Article
- Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.Molecular genetics & genomic medicine · 2024Article
- A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Review
- Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).Molecular genetics and genomics : MGG · 2024Article
- XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2022Review
- Neuroacanthocytosis Syndromes: The Clinical Perspective.Contact (Thousand Oaks (Ventura County, Calif.))Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis, progressive degeneration of the basal ganglia and neuromuscular features with characteristic persistent hyperCKemia. The main NA syndromes include autosomal recessive chorea-acanthocytosis (ChAc) and X-linked McLeod syndrome (MLS). A series of Italian patients selected through a multicenter study for these specific neurological phenotypes underwent DNA sequencing of the
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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.