Kolexia
Funalot Benoit Génétique médicale
Funalot Benoit
Génétique médicale
Hôpital Henri Mondor
Créteil, France
138 Activités
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Scientifique
Digital
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Sujets de recherche
{{person.topmesh1.name}} Amyloïdose Maladie de Charcot-Marie-Tooth Neurofibromatoses Maladies des dents Maladies mitochondriales Neurofibromatose de type 1 Neuropathies amyloïdes familiales Atrophie Neuropathies périphériques

Collaborateurs

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Fanen Pascale
Fanen Pascale
Hôpital Henri Mondor, Créteil, France
Damy Thibaud
Damy Thibaud
Hôpital Henri Mondor, Créteil, France
Vallat Jean-Michel
Vallat Jean-Michel
Hôpital Dupuytren, Limoges, France
Oghina Silvia
Oghina Silvia
Hôpital Henri Mondor, Créteil, France

Industries

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Pfizer
12 collaboration(s)
Dernière en 2023
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Dernières activités

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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.
Frontiers in genetics   29 janvier 2024
La génétique arrive en ville ! Ce que le cardiologue doit savoir
Youtube @ Réseau Amylose   19 décembre 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
The Journal of clinical investigation   14 novembre 2023
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Nature genetics   02 novembre 2023
Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association   01 septembre 2023
Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France.
Archives of cardiovascular diseases   18 août 2023
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.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis   28 juin 2023
Preimplantation genetic testing of m.8344A>G MERRF mitochondrial DNA mutation: challenge and success
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
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.
British journal of haematology   16 mars 2023
Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis.
Frontiers in cardiovascular medicine   14 mars 2023