Bruno Francou
Nice, France
Last Updated: 09/26/2026
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Found 42 publications
Intracutaneous Amyloid Deposition is Associated With Nerve Conduction Studies Deterioration in Presumed Asymptomatic Pathogenic Variant TTR Carriers.
Journal: European journal of neurology
Published: February 13, 2025
TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.
Journal: European journal of neurology
Published: December 09, 2024
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis.
Journal: Orphanet journal of rare diseases
Published: June 10, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Journal: Annals of clinical and translational neurology
Published: February 26, 2024
Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy.
Journal: European journal of neurology
Published: August 23, 2023
Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: July 14, 2023
Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).
Journal: Revue neurologique
Published: May 16, 2023
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 16, 2023
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 22, 2022
Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64 (10) (October 2021) 104305].
Journal: European journal of medical genetics
Published: February 20, 2022
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Journal: Genes
Published: January 05, 2022
Last Updated: 09/26/2026