Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years

16 Aug 2019

Abstract excerpt

INTRODUCTION AND OBJECTIVES: Leukodystrophies and genetic leukoencephalopathies constitute a vast group of pathologies of the cerebral white matter. The large number of etiopathogenic genes and the frequent unspecificity on the clinical-radiological presentation generate remarkable difficulties in the diagnosis approach. Despite recent and significant developments, molecular diagnostic yield is still less than...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cerebrovascular and genetic disorders
Share to Neurological diseases and metabolism
Share to RNA regulation and disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31418856
DOI: 10.1111/ahg.12345

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 yearsPMID 31418856Read ↗

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.Semantic proximity Read ↗

Genetic Testing of Leukodystrophies Unraveling Extensive Heterogeneity in a Large Cohort: The Role of Five Common Diseases and Report of 38 Novel VariantsSemantic proximity Read ↗

Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.Semantic proximity Read ↗

Clinical and genetic characterization of leukoencephalopathies in adults.Semantic proximity Read ↗

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.Semantic proximity Read ↗

Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.Semantic proximity Read ↗

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.Semantic proximity Read ↗

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.Semantic proximity Read ↗

Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.Semantic proximity Read ↗

Management of Inherited CNS Small Vessel Diseases: The CADASIL Example: A Scientific Statement From the American Heart Association.Semantic proximity Read ↗

New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.Semantic proximity Read ↗

Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.