Concepedia
Statistics
Publications
22
Citations
1.2K
H-Index
16
Active since
1999
Affiliations
Inserm(Current)
Hôpital Necker-Enfants Malades
Assistance Publique – Hôpitaux de Paris
Sorbonne Université
Université Paris Cité
I. Desguerre is an author at Inserm specializing in medicine, life sciences, and genetics.
Publications per year
1999–2022
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Gisèle Bonne, Eugenio Mercuri, Antoine Muchir et al. · Annals of Neurology · 2000 · 491 citations
Medicine, Genetics, Molecular Genetics +14
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation
Anthony Drecourt, Joël Babdor, Michaël Dussiot et al. · The American Journal of Human Genetics · 2018 · 98 citations · Full text
Life Sciences, Biochemistry, Neuroscience +14
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency
Anne-Sophie Lèbre, Marlène Rio, L. Faivre d'Arcier et al. · Journal of Medical Genetics · 2010 · 97 citations · Full text
Life Sciences, Genetics, Neuroscience +17
A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31
Valérie Cormier‐Daire, Nathalie Dagoneau, Rima Nabbout et al. · The American Journal of Human Genetics · 2000 · 63 citations · Full text
Medicine, Genetics, Molecular Genetics +12
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia
Jean‐Baptiste Arnoux, Nathalie Boddaert, Vassili Valayannopoulos et al. · Molecular Genetics and Metabolism · 2008 · 60 citations
Medicine, Cardiology, Pediatrics +10
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