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Human Mutation|June 9, 2012
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomesAyman El-Seedy, Emmanuelle Girodon, Caroline Norez, et al.Frontiers in Pharmacology|May 16, 2022
Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat CombinationLucile Hoch, Nathalie Bourg, Fanny Degrugillier, et al.Journal of the American Heart Association|June 21, 2024
Prevalence, Characteristics, and Impact on Prognosis of Aortic Stenosis in Patients With Cardiac AmyloidosisMohamed-Salah Annabi, Rasmus Carter-Storch, Amira Zaroui, et al.Presse Medicale (Paris, France : 1983)|August 6, 2016
[Cardiac amyloidosis: How to recognize them and manage them?]Diane Bodez, Arnault Galat, Aziz Guellich, et al.ESC Heart Failure|July 18, 2024
Phenotype and prognostic factors in geriatric and non-geriatric patients with transthyretin cardiomyopathyEugenia Volpentesta, Mounira Kharoubi, Cristiano Donadio, et al.Mayo Clinic Proceedings|May 20, 2019
Renal Infarction and Its Consequences for Renal Function in Patients With Cardiac AmyloidosisJulien Dang, Mukedaisi Abulizi, Anissa Moktefi, et al.Thorax|December 4, 2024
Surfactant protein B deficiency: the RespiRare cohortManon Fleury, Céline Delestrain, Léa Roditis, et al.European Journal of Nuclear Medicine and Molecular Imaging|March 12, 2020
Extracardiac soft tissue uptake, evidenced on early <sup>99m</sup>Tc-HMDP SPECT/CT, helps typing cardiac amyloidosis and demonstrates high prognostic valueNathan Malka, Mukedaisi Abulizi, Mounira Kharoubi, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|July 26, 2011
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practiceCatherine Costa, Virginie Pruliere-Escabasse, Alix de Becdelievre, et al.Mayo Clinic Proceedings|December 4, 2022
Real-Life Evaluation of an Algorithm for the Diagnosis of Cardiac AmyloidosisMélanie Bézard, Mounira Kharoubi, Arnault Galat, et al.Pageof 8