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Article

Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke.

Journal of neurology - 1 May 2023

Roos Jessica, Müller Stefanie, Giese Anne, Appenzeller Silke, Ringelstein Erich Bernd, Fiehler Jens, Berger Klaus, Rolfs Arndt, Hagel Christian, Kuhlenbäumer Gregor

Abstract excerpt

BACKGROUND: (1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and correlation with the segregation analysis of the causative collagen 4A1 gene (COL4A1) variant. (2) Sequence analysis of the COL4A1 miRNA-binding site containing the causative variant in two independent cross-sectional samples of sporadic stroke...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36786861
DOI: 10.1007/s00415-023-11590-9
PMCID: PMC10130117

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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