F
Francesca Moro
Researcher at University of Genoa
Publications - 53
Citations - 2303
Francesca Moro is an academic researcher from University of Genoa. The author has contributed to research in topics: Epilepsy & Missense mutation. The author has an hindex of 26, co-authored 51 publications receiving 2107 citations. Previous affiliations of Francesca Moro include University of Pisa & Foundation University, Islamabad.
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Journal ArticleDOI
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
Elena Parrini,A. Ramazzotti,William B. Dobyns,Davide Mei,Francesca Moro,Pierangelo Veggiotti,Carla Marini,Eva H. Brilstra,B. Dalla Bernardina,L. Goodwin,Adria Bodell,M. C. Jones,M. Nangeroni,S. Palmeri,E. Said,Josemir W. Sander,Pasquale Striano,Yukitoshi Takahashi,L. Van Maldergem,Giovanni Leonardi,M. Wright,Christopher A. Walsh,Renzo Guerrini,Renzo Guerrini +23 more
TL;DR: The high prevalence of mutations causing protein truncations confirms that loss of function is the major cause of the disorder.
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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
Renzo Guerrini,Francesca Moro,Mitsuhiro Kato,A. J. Barkovich,Takashi Shiihara,M. A. McShane,J. Hurst,M. Loi,J. Tohyama,V. Norci,Kiyoshi Hayasaka,Un Jung Kang,S Das,William B. Dobyns +13 more
TL;DR: The phenotype of infantile spasms with severe dyskinetic quadriparesis increases the number of human disorders that result from the pathologic expansion of single alanine repeats.
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Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.
Renzo Guerrini,Paolo Bonanni,Andrea Patrignani,Peter Brown,Lucio Parmeggiani,Pascal Grosse,Paola Brovedani,Francesca Moro,Paolo Aridon,Romeo Carrozzo,Giorgio Casari +10 more
TL;DR: Clinical and neuro- physiological characteristics suggest diffuse cortical hyperexcitability and high propensity for intra-hemispheric and inter-hemisphere cortical spread, as well as rhythmic myoclonic activity.
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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Renzo Guerrini,Davide Mei,Sanjay M. Sisodiya,Federico Sicca,Brian Harding,Yukitoshi Takahashi,Thomas Dorn,A. Yoshida,Josep M. Campistol,G. Krämer,Francesca Moro,William B. Dobyns,Elena Parrini +12 more
TL;DR: Mutation analysis of FLN1 should support genetic counseling in men with periventricular nodular heterotopia and is caused by different genetic mechanisms, including somatic mosaicism.
Journal ArticleDOI
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Federico Sicca,A. Kelemen,Pierre Genton,Shantanu Das,Davide Mei,Francesca Moro,William B. Dobyns,Renzo Guerrini +7 more
TL;DR: Mutation analysis of LIS1, using highly sensitive techniques such as denaturing high-pressure liquid chromatography, should be considered for patients with posteriorly predominant subcortical band heterotopia and pachygyria.