Présentation
Alessandra est docteure en médecine spécialisée dans les maladies métaboliques pédiatriques avec un intérêt particulier pour les maladies mitochondriales.
Elle effectue des activités cliniques et de recherche liées au centre de référence des maladies mitochondriales CARAMMEL.
Après son Master 2, elle réalisera une thèse avec pour objectif d'étudier la réponse immunitaire associée aux maladies mitochondriales.
Ressources & publications
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2009Journal (source)Nat. Genet.Highly conserved non-coding elements on either side of SOX9 associated with P...
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2020Journal (source)Am. J. Hum. Genet.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta...
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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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2019Journal (source)Biol Cell
Cilia in hereditary cerebral anomalies.
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2019Journal (source)Hum Mol Genet
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in...
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2015Journal (source)J Cell Biol
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia...
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2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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2018Journal (source)Birth Defects Res
A neuropathological study of novel RTTN gene mutations causing a familial mic...
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2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
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2018Journal (source)Am J Med Genet A
Loss of function IFT27 variants associated with an unclassified lethal fetal ...
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Journal (source)J Neuropathol Exp Neurol
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Rela...
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2017Journal (source)Am J Med Genet A
Prenatal and postnatal presentations of corpus callosum agenesis with polymic...
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2015Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2013Journal (source)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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2013Journal (source)Eur J Hum Genet
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome an...
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2012Journal (source)Science
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
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2012Journal (source)Nat Med
Gene therapy rescues cilia defects and restores olfactory function in a mamma...
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2010Journal (source)J Med Genet
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
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2010Journal (source)Nat Genet
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...
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2009Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...