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francesca moro
francesca moro
biologo IRCCS Fondazione Stella Maris
Bestätigte E-Mail-Adresse bei fsm.unipi.it
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Zitiert von
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
E Parrini, A Ramazzotti, WB Dobyns, D Mei, F Moro, P Veggiotti, C Marini, ...
Brain 129 (7), 1892-1906, 2006
3652006
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: a newly recognized epilepsy syndrome with linkage to chromosome 2p11 …
R Guerrini, P Bonanni, A Patrignani, P Brown, L Parmeggiani, P Grosse, ...
Brain 124 (12), 2459-2475, 2001
1912001
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
R Guerrini, F Moro, M Kato, AJ Barkovich, T Shiihara, MA McShane, ...
Neurology 69 (5), 427-433, 2007
1792007
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
R Guerrini, D Mei, S Sisodiya, F Sicca, B Harding, Y Takahashi, T Dorn, ...
Neurology 63 (1), 51-56, 2004
1502004
Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease
R Battini, MG Alessandrì, V Leuzzi, F Moro, M Tosetti, MC Bianchi, G Cioni
The Journal of pediatrics 148 (6), 828-830, 2006
1342006
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
F Sicca, A Kelemen, P Genton, S Das, D Mei, F Moro, WB Dobyns, ...
Neurology 61 (8), 1042-1046, 2003
1302003
Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4. 1
F Sicca, P Imbrici, MC D'Adamo, F Moro, F Bonatti, P Brovedani, ...
Neurobiology of disease 43 (1), 239-247, 2011
1202011
Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations
P Bonanni, M Malcarne, F Moro, P Veggiotti, D Buti, AR Ferrari, E Parrini, ...
Epilepsia 45 (2), 149-158, 2004
1142004
Bone marrow harvest for marrow transplantation: Effect of multiple small (2 ml) or large (20 ml) aspirates.
A Bacigalupo, J Tong, M Podesta, G Piaggio, O Figari, P Colombo, ...
Bone marrow transplantation 9 (6), 467-470, 1992
1101992
Familial periventricular heterotopia: Missense and distal truncating mutations of the FLN1 gene
F Moro, R Carrozzo, P Veggiotti, G Tortorella, D Toniolo, A Volzone, ...
Neurology 58 (6), 916-921, 2002
1032002
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the …
A Kakita, S Hayashi, F Moro, R Guerrini, T Ozawa, K Ono, S Kameyama, ...
Acta neuropathologica 104, 649-657, 2002
1022002
Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development
C Fiorillo, F Moro, J Yi, S Weil, G Brisca, G Astrea, M Severino, A Romano, ...
Human mutation 35 (3), 298-302, 2014
972014
CMV prophylaxis with foscarnet in allogeneic bone marrow transplant recipients at high risk of developing CMV infections.
A Bacigalupo, E Tedone, MT Van Lint, G Trespi, M Lonngren, MA Sanna, ...
Bone marrow transplantation 13 (6), 783-788, 1994
791994
Genetically induced dysfunctions of Kir2. 1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype
E Ambrosini, F Sicca, MS Brignone, MC D'adamo, C Napolitano, ...
Human Molecular Genetics 23 (18), 4875-4886, 2014
762014
Abnormal Phonologic Processing in Familial Lateral Temporal Lobe Epilepsy Due to a New LGI1 Mutation
T Pisano, C Marini, P Brovedani, D Brizzolara, D Pruna, D Mei, F Moro, ...
Epilepsia 46 (1), 118-123, 2005
722005
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy
F Sicca, E Ambrosini, M Marchese, L Sforna, I Servettini, G Valvo, ...
Scientific Reports 6 (1), 34325, 2016
702016
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening
M Marchese, V Conti, G Valvo, F Moro, F Muratori, R Tancredi, ...
BMC medical genetics 15, 1-7, 2014
682014
Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations
R Guerrini, F Moro, E Andermann, E Hughes, D D'Agostino, R Carrozzo, ...
Annals of neurology 54 (1), 30-37, 2003
652003
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly
A Fogli, R Guerrini, F Moro, E Fernandez‐Alvarez, M Odile Livet, ...
Annals of Neurology: Official Journal of the American Neurological …, 1999
631999
CMV infections following allogeneic BMT: risk factors, early treatment and correlation with transplant related mortality.
A Bacigalupo, E Tedone, MA Sanna, F Moro, MT Van Lint, G Grazi, ...
Haematologica 77 (6), 507-513, 1992
521992
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