Mato Nagel
Weisswasser, SN, Germany
Last Updated: 09/26/2026
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Found 21 publications
Progression to kidney failure in ADPKD: the PROPKD score underestimates the risk assessed by the Mayo imaging classification.
Journal: Frontiers in medicine
Published: July 25, 2024
A 21-year-old woman with progressive asymptomatic skin laxity in flexural regions.
Journal: Clinical and experimental dermatology
Published: March 03, 2023
Characterization of Choriocapillaris and Choroidal Abnormalities in Alport Syndrome.
Journal: Translational vision science & technology
Published: March 21, 2022
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.
Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: September 19, 2021
THE SPECTRUM OF INTERNAL LIMITING MEMBRANE DISEASE IN ALPORT SYNDROME: A Multimodal Imaging Study.
Journal: Retina (Philadelphia, Pa.)
Published: September 06, 2021
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics.
Journal: Frontiers in genetics
Published: March 18, 2021
The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome.
Journal: Frontiers in pediatrics
Published: September 03, 2019
Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis.
Journal: International journal of molecular sciences
Published: December 14, 2018
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.
Journal: European journal of medical genetics
Published: January 18, 2018
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Journal: Pediatric nephrology (Berlin, Germany)
Published: January 10, 2018
Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report.
Journal: SAGE open medical case reports
Published: February 09, 2017
Last Updated: 09/26/2026