Benoit Funalot - Publications

Cherry Angiomas in Individuals With Neurofibromatosis Type 1.

Journal: JAMA dermatology

Published: August 19, 2026

Evaluation of the yield index of genetic counselling for first-degree relatives of patients with hereditary transthyretin cardiac amyloidosis.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: May 15, 2026

Sex Differences in Phenotype and Tafamidis-Associated Survival in Val122Ile Transthyretin Cardiac Amyloidosis.

Journal: JACC. Heart failure

Published: March 03, 2026

Measurement of the severity related to cutaneous neurofibromas in neurofibromatosis type 1: Development and validation of the Nef-ASI.

Journal: Journal of the American Academy of Dermatology

Published: April 03, 2025

A new staging system for hereditary transthyretin amyloidosis in the era of specific amyloidosis therapies.

Journal: ESC heart failure

Published: March 31, 2025

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Journal: Journal of medical genetics

Published: March 14, 2025

Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review.

Journal: Frontiers in neurology

Published: January 10, 2025

Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the HSD17B10 gene: case report.

Journal: AME case reports

Published: December 16, 2024

Corrigendum to "The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy" [International Journal of Cardiology Volume 417, 15 December 2024, 132542].

Journal: International journal of cardiology

Published: November 08, 2024

A phenotypic comparison of the Romanian and French ATTRv cohorts: Glu54Gln founder pathogenic variant vs the most common variants in Western Europe.

Journal: International journal of cardiology

Published: October 24, 2024

Biochemical screening of glucose-6-phosphate dehydrogenase deficiency in borderline cases: Complementary inputs of standardization enzymes and comparison with genetic status.

Journal: British journal of haematology

Published: September 29, 2024

Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.

Journal: Orphanet journal of rare diseases

Published: June 10, 2024