An Overview of Genetics of Moyamoya: Beyond

Giovanni Sorte, Mariagiovanna Cantone, Rita Bella, Michele Salemi, Marialuisa Zedde, Mario Zappia

Abstract readReview

In one paragraph

Review in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

Insights in the pathogenesis of twig MCA: time to consider it an abnormality?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
Article

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Giovanni SorteDepartment of Medical and Surgical Sciences and Advanced Technologies "G. F. Ingrassia", University of Catania, 95124 Catania, Italy.ORCID 0009-0006-4434-8350

Mariagiovanna CantoneUnit of Neurology, Policlinico University Hospital "G. Rodolico-San Marco", 95123 Catania, Italy.ORCID 0000-0002-9072-4971

Rita BellaDepartment of Medical and Surgical Sciences and Advanced Technologies "G. F. Ingrassia", University of Catania, 95124 Catania, Italy.ORCID 0000-0001-8332-6863

Michele SalemiOasi Research Institute-IRCCS, 94018 Troina, Italy.

Marialuisa ZeddeNeurology Unit, Stroke Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0001-7530-818X

Mario ZappiaDepartment of Medical and Surgical Sciences and Advanced Technologies "G. F. Ingrassia", University of Catania, 95124 Catania, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Moyamoya angiopathy (MMA) is a rare, chronic progressive cerebrovascular condition characterized by bilateral stenosis or occlusion of the terminal internal carotid arteries and their major branches. This progressive occlusion triggers the development of telangiectatic and fragile vessels at the base of the brain, creating the characteristic angiographic appearance of a "puff of smoke." Depending on the etiology, MMA is classified as Moyamoya Disease (MMD) when idiopathic and primary or Moyamoya Syndrome (MMS) when associated with underlying systemic conditions. While the

Indexed as

Adenosine TriphosphatasesGenetic Predisposition to DiseaseMoyamoya DiseaseUbiquitin-Protein LigasesAnimalsHumansAdenosine TriphosphatasesRNF213 protein, humanUbiquitin-Protein LigasesACTA2molecular pathogenesisMoyamoya syndromerare diseasesRNF213vascular genetics

Identifiers

PMID42196405

DOI10.3390/ijms27104431

PMCPMC13208044

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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.