Publikationen in Zusammenarbeit mit Forschern von Centre Hospitalier Universitaire de Nancy (13)

2023

  1. Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

    Movement Disorders

  2. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

    Scientific Reports, Vol. 13, Núm. 1

2022

  1. Combined Bacterial Meningitis and Infective Endocarditis: When Should We Search for the Other When Either One is Diagnosed?

    Infectious Diseases and Therapy, Vol. 11, Núm. 4, pp. 1521-1540

  2. Correction to: Surgery and outcome of infective endocarditis in octogenarians: prospective data from the ESC EORP EURO-ENDO registry (Infection, (2022), 50, 5, (1191-1202), 10.1007/s15010-022-01792-0)

    Infection

2020

  1. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Human Mutation, Vol. 41, Núm. 4, pp. 837-849

2019

  1. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    Molecular Genetics and Metabolism, Vol. 127, Núm. 1, pp. 1-11

2017

  1. Randomized comparison of liposomal amphotericin B versus placebo to prevent invasive mycoses in acute lymphoblastic leukaemia

    Journal of Antimicrobial Chemotherapy, Vol. 72, Núm. 8, pp. 2359-2367

2016

  1. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

2015

  1. Is impact of statin therapy on all-cause mortality different in HIV-infected individuals compared to general population? Results from the FHDH-ANRS CO4 cohort

    PLoS ONE, Vol. 10, Núm. 7

2014

  1. Echocardiographic reference ranges for normal cardiac chamber size: Results from the NORRE study

    European Heart Journal Cardiovascular Imaging, Vol. 15, Núm. 6, pp. 680-690

  2. Opportunistic infections and AIDS malignancies early after initiating combination antiretroviral therapy in high-income countries

    AIDS, Vol. 28, Núm. 16, pp. 2461-2473

2010

  1. Deferasirox in iron-overloaded patients with transfusion-dependent myelodysplastic syndromes: Results from the large 1-year EPIC study

    Leukemia Research, Vol. 34, Núm. 9, pp. 1143-1150

2008

  1. The Provisional Paediatric Rheumatology International Trials Organisation/American College of Rheumatology/European League Against Rheumatism disease activity core set for the evaluation of response to therapy in juvenile dermatomyositis: A prospective validation study

    Arthritis Care and Research, Vol. 59, Núm. 1, pp. 4-13