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14 results on '"Falvo, Francesca"'

2. Werner syndrome: a rare mutation

Author

Castagna, Alberto, Gareri, Pietro, Falvo, Francesca, Sestito, Simona, Rocca, Maurizio, Pensabene, Licia, Concolino, Daniela, Coppolino, Giuseppe, and Ruotolo, Giovanni

Published
2019
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4. Werner syndrome: a rare mutation

Author

Castagna, Alberto, primary, Gareri, Pietro, additional, Falvo, Francesca, additional, Sestito, Simona, additional, Rocca, Maurizio, additional, Pensabene, Licia, additional, Concolino, Daniela, additional, Coppolino, Giuseppe, additional, and Ruotolo, Giovanni, additional

Published
2018
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5. Genetic variants associated with Fabry disease progression despite enzyme replacement therapy

Author

Scionti, Francesca, primary, Di Martino, Maria Teresa, additional, Sestito, Simona, additional, Nicoletti, Angela, additional, Falvo, Francesca, additional, Roppa, Katia, additional, Arbitrio, Mariamena, additional, Guzzi, Pietro Hiram, additional, Agapito, Giuseppe, additional, Pisani, Antonio, additional, Riccio, Eleonora, additional, Concolino, Daniela, additional, and Pensabene, Licia, additional

Published
2017
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7. Norrbottnian clinical variant of Gaucher disease in Southern Italy

Author

Sestito, Simona, primary, Filocamo, Mirella, additional, Ceravolo, Ferdinando, additional, Falvo, Francesca, additional, Grisolia, Michele, additional, Moricca, Maria Teresa, additional, Cantaffa, Renato, additional, Grossi, Serena, additional, Strisciuglio, Pietro, additional, and Concolino, Daniela, additional

Published
2016
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8. Neurological Involvement in Tetrahydrobiopterin Deficiency

Author

Mascaro, Italia, primary, Ceravolo, Ferdinando, primary, Ferraro, Stefania, primary, Procopio, Daniela, primary, Falvo, Francesca, primary, Grisolia, Michele, primary, Leone, Giuseppina, primary, Salpietro, Vincenzo, primary, Polizzi, Agata, primary, Ruggieri, Martino, primary, and Concolino, Daniela, additional

Published
2016
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11. Neurological Findings in Anderson-Fabry Disease

Author

Nicoletti, Angela, primary, Sestito, Simona, primary, Falvo, Francesca, primary, Mascaro, Italia, primary, Moricca, Maria, primary, Salpietro, Vincenzo, primary, Polizzi, Agata, primary, Ruggieri, Martino, primary, Bruno, Mercuri, primary, and Concolino, Daniela, additional

Published
2016
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13. Neuronopathic Gaucher Disease

Author

Sestito, Simona, primary, Falvo, Francesca, primary, Grisolia, Michele, primary, Nicoletti, Angela, primary, Pascale, Elisa, primary, Moricca, Maria, primary, Esposito, Sara, primary, Salpietro, Vincenzo, primary, Polizzi, Agata, primary, Ruggieri, Martino, primary, and Concolino, Daniela, additional

Published
2016
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14. Norrbottnian clinical variant of Gaucher disease in Southern Italy

Author

Michele Grisolia, Ferdinando Ceravolo, Francesca Falvo, Simona Sestito, Renato Cantaffa, Mirella Filocamo, Daniela Concolino, Serena Grossi, Maria Teresa Moricca, Pietro Strisciuglio, Sestito, Simona, Filocamo, Mirella, Ceravolo, Ferdinando, Falvo, Francesca, Grisolia, Michele, Moricca, Maria Teresa, Cantaffa, Renato, Grossi, Serena, Strisciuglio, Pietro, and Concolino, Daniela

Subjects
Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Genotype, medicine.medical_treatment, Splenectomy, Hepatosplenomegaly, Disease, 030105 genetics & heredity, Biology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Genetics, medicine, Humans, Dementia, Age of Onset, Genetics (clinical), Sweden, Gaucher Disease, beta-Glucosidase, Horizontal gaze palsy, Middle Aged, medicine.disease, Osteopenia, Phenotype, Italy, Female, medicine.symptom, 030217 neurology & neurosurgery
Abstract

The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared during or before the sixteenth century in northern Sweden. It is a well-defined nosological entity with a characteristic course of clinical manifestations. In particular, Norrbottnian patients described in Sweden and Poland seem to share identical clinical histories characterized by the early onset of significant hepatosplenomegaly, often requiring splenectomy at an early age. Neurological involvement generally appears during the first or second decade of life, and includes horizontal gaze palsy, epilepsy, myoclonic movements, ataxia, dementia and cognitive impairment. Osteopenia occurs primarily in the spine, causing a severe and progressive thoracic kyphosis, although the involvement of other skeletal sites cannot be excluded. Here, we report on four Gaucher type 3 patients with Southern Italian ancestry presenting with clinical features and disease progression comparable to those of the 'Norrbottnian' Swedish phenotype, particularly regarding skeletal involvement with poor responsiveness to any therapeutical approach. Although a common ancestry among Southern Italian and Swedish Norrbottnian GD patients could not be investigated, the genotype [L444P]+[L444P] is the most frequently encountered in Southern Italy.

Published
2016

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