Publications by authors named "Benoit Funalot"

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A new staging system for hereditary transthyretin amyloidosis in the era of specific amyloidosis therapies.
Gabriela Neculae, Amira Zaroui, Robert Adam, Mounira Kharoubi, Benoit Funalot

ESC Heart Fail· December 2025

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Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with point variants.
Laurence Pacot, Marinus Blok, Dominique Vidaud, Laura Fertitta, Ingrid Laurendeau, Benoit Funalot

J Med Genet· November 2025

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Measurement of the severity related to cutaneous neurofibromas in neurofibromatosis type 1: Development and validation of the Nef-ASI.
Laura Fertitta, Arnaud Jannic, Christina Bergqvist, Vanessa Delique, Marie-Laure Armand, Benoit Funalot

J Am Acad Dermatol· October 2025

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Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review.
Álvaro Darriba, Arnold Munnich, Pedro Cardoso-Leite, Benoît Funalot, Florian Waszak

Front Neurol· May 2025

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Biochemical screening of glucose-6-phosphate dehydrogenase deficiency in borderline cases: Complementary inputs of standardization enzymes and comparison with genetic status.
Alexandre Raynor, Basile Jacquel, Stanislas François, Soraya Fellahi, Nadir Mouri, Benoît Funalot

Br J Haematol· February 2025

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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].
Albert Hagège, Tania Puscas, Mohamed El Hachmi, Alessandro Parodi, Anne Bacher, Benoit Funalot

Int J Cardiol· January 2025

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A phenotypic comparison of the Romanian and French ATTRv cohorts: Glu54Gln founder pathogenic variant vs the most common variants in Western Europe.
Gabriela Neculae, Amira Zaroui, Mounira Kharoubi, Mélanie Bézard, Benoit Funalot

Int J Cardiol· January 2025

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Phenotype and prognostic factors in geriatric and non-geriatric patients with transthyretin cardiomyopathy.
Eugenia Volpentesta, Mounira Kharoubi, Cristiano Donadio, Kahina Rebiai, Pascale Fanen, Benoit Funalot

ESC Heart Fail· December 2024

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The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy.
Albert Hagège, Tania Puscas, Mohamed El Hachmi, Alessandro Parodi, Anne Bacher, Benoit Funalot

Int J Cardiol· December 2024

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Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.
Bérénice Hebrard, Marie-Lise Babonneau, Philippe Charron, Emilie Consolino, Benjamin Dauriat, Benoît Funalot

Orphanet J Rare Dis· October 2024

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Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Benoît Funalot

NPJ Genom Med· September 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Benoît Funalot

J Clin Invest· January 2024

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Recurrent "outsider" intronic variation in the 6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche, Bénédicte Heron, Benoît Funalot

Front Genet· January 2024

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Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.
Grégoire Albenque, Mélanie Bézard, Mounira Kharoubi, Shirley Odouard, Ariane Lunati, Benoît Funalot

Amyloid· December 2023

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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Nika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, Jérémie Gautheron, Marie-Christine Vantyghem, Benoit Funalot

Nat Genet· November 2023

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Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France.
Thibaud Damy, Amira Zaroui, Marie de Tournemire, Mounira Kharoubi, Romain Gounot, Benoit Funalot

Arch Cardiovasc Dis· October 2023

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Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.
Julien Dang, Sophie Ferlicot, Micheline Misrahi, Charlotte Mussini, Ilias Kounis, Benoit Funalot

Nephrol Dial Transplant· August 2023

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Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Ariane Lunati-Rozie, Alexandre Janin, Emmanuelle Faubert, Severine Nony, Céline Renoux, Benoît Funalot

Br J Haematol· May 2023

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Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis.
Mounira Kharoubi, Mélanie Bézard, Amaury Broussier, Arnault Galat, Romain Gounot, Benoit Funalot

Front Cardiovasc Med· March 2023

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Real-Life Evaluation of an Algorithm for the Diagnosis of Cardiac Amyloidosis.
Mélanie Bézard, Mounira Kharoubi, Arnault Galat, Fabien Le Bras, Elsa Poullot, Benoit Funalot

Mayo Clin Proc· January 2023

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Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
Lamisse Mansour-Hendili, Edouard Flamarion, Marc Michel, Caroline Morbieu, Christine Gameiro, Benoît Funalot

Am J Hematol· August 2022

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SCN10A variants associated with congenital harlequin syndrome.
Aurelie Halle, Alix De Becdelievre, Benoit Funalot, Christine Labrèze, Fanny Morice-Picard

Br J Dermatol· June 2022

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Describing mode of death in three major cardiac amyloidosis subtypes to improve management and survival.
Mounira Kharoubi, Diane Bodez, Mélanie Bézard, Amira Zaroui, Arnault Galat, Benoit Funalot

Amyloid· June 2022

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Prevalence and determinants of iron deficiency in cardiac amyloidosis.
Antoine Jobbé-Duval, Mélanie Bézard, Stéphane Moutereau, Mounira Kharoubi, Silvia Oghina, Benoit Funalot

ESC Heart Fail· April 2022

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(TTF1) germline mutation associated with pulmonary fibrosis and lung cancer.
Raphael Borie, Benoit Funalot, Ralph Epaud, Céline Delestrain, Aurélie Cazes

ERJ Open Res· October 2021

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