Flavia Palombo

ORCID

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 5

Top Venues

Neurogenetics

American journal of medical genetics. Part A

Journal of medical genetics

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, Danara Ormanbekova, Isabelle Bacchi, Claudio Fiorini, Adelaide Peruzzi, Luca Morandi, Rocco Liguori, Valerio Carelli, Giovanni Rizzo
Two more families supporting the existence of monogenic spinocerebellar ataxia 48. Neurogenetics (2024)
Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, Danara Ormanbekova, Isabelle Bacchi, Claudio Fiorini, Adelaide Peruzzi, Luca Morandi, Rocco Liguori, Valerio Carelli, Giovanni Rizzo
Two more families supporting the existence of monogenic spinocerebellar ataxia 48. Neurogenetics 25 (3) (2024)
Claudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla, Concetta Valentina Tropeano, Chiara La Morgia, Marco Battista, Danara Ormanbekova, Flavia Palombo, Michele Carbonelli, Francesco Bandello, Valerio Carelli, Alessandra Maresca, Piero Barboni, Enrico Baruffini, Leonardo Caporali
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy. Journal of medical genetics (2023)
Flavia Palombo, Chiara La Morgia, Claudio Fiorini, Leonardo Caporali, Maria Lucia Valentino, Vincenzo Donadio, Rocco Liguori, Valerio Carelli
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia. Neurology. Genetics 8 (5) (2022)
Flavia Palombo, Benedetta Piccolo, Elena Saccani, Claudio Fiorini, Mariantonietta Capristo, Leonardo Caporali, Francesco Pisani, Valerio Carelli
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy. American journal of medical genetics. Part A 185 (6) (2021)

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Publication Activity (10 Years)

Top Topics

Top Venues

Flavia Palombo