Concepedia
Statistics
Publications
6
Citations
128
H-Index
Active since
2019
Affiliations
Inserm(Current)
Institut des Maladies Génétiques Imagine
Université Paris Cité
Radboud University Medical Center
Radboud University Nijmegen
Alessandra Pennisi is an author at Inserm specializing in life sciences, molecular genetics, and genetic disorders.
Publications per year
2019–2022
Expanding the phenotypic spectrum of <i>BCS1L</i>‐related mitochondrial disease
Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan et al. · Annals of Clinical and Translational Neurology · 2021 · 27 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome
Alessandra Pennisi, Bruno Maranda, Jean‐François Benoist et al. · Journal of Inherited Metabolic Disease · 2019 · 26 citations
Agriculture, Nutrition, Nutritional Sciences +14
Heterozygous <scp><i>PNPT1</i></scp> Variants Cause Spinocerebellar Ataxia Type 25
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi et al. · Annals of Neurology · 2022 · 26 citations · Full text
Novel <i>NDUFA12</i> variants are associated with isolated complex I defect and variable clinical manifestation
Alessandra Torraco, Alessia Nasca, Daniela Verrigni et al. · Human Mutation · 2021 · 21 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Georg F. Vogel, Yael Mozer‐Glassberg, Yuval E. Landau et al. · Genetics in Medicine · 2022 · 16 citations · Full text
Medicine, Molecular Genetics, Pediatrics +16
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