ArticleFunctional neurology
Lombardia GENS: a collaborative registry for monogenic diseases associated with stroke.
Article in Functional neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A stroke gene panel for whole-exome sequencing.European journal of human genetics : EJHG · 2019Pooled it
- Differential blood-based biomarkers of subcortical and deep brain small vessel disease.Therapeutic advances in neurological disorders · 2024Article
- Monogenic basis of young-onset cryptogenic stroke: a multicenter study.Annals of translational medicine · 2022Article
- Pathophysiology of Lacunar Stroke: History's Mysteries and Modern Interpretations.Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2019Review
- The role of clinical and neuroimaging features in the diagnosis of CADASIL.Journal of neurology · 2018Article
- Biofeedback rehabilitation of posture and weightbearing distribution in stroke: a center of foot pressure analysis.Functional neurologyArticle
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Italian region of Lombardy, with its existing stroke centers and high-technology laboratories, provides a favorable context for studying monogenic diseases associated with stroke. The Lombardia GENS project was set up to create a regional network for the diagnosis of six monogenic diseases associated with stroke: CADASIL, Fabry disease, MELAS, familial and sporadic hemiplegic migraine, hereditary cerebral amyloid angiopathy and Marfan syndrome. The network comprises 36 stroke centers and seven high-technology laboratories, performing molecular analysis. In this context, all stroke/TIA patients fulfilling clinical criteria for monogenic diseases are currently being included in an ongoing study. Demographic, clinical and family data and diagnostic criteria are collected using standardized forms. On the basis of stroke incidence in Lombardy and the reported prevalence of the diseases considered, we expect, during the course of the study, to collect datasets and DNA samples from more than 200 stroke patients suspected of having monogenic diseases. This will allow evaluation of the regional burden and better phenotype characterization of monogenic diseases associated with stroke.
Indexed as
Identifiers
23158583PMC3812776What OpenQuestion holds
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.