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Parrini, Elena
173
results:
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Online (173)
Mediatypes
Articles (Online) (68)
Bookchapter (Online) (2)
OpenAccess-fulltext (102)
Video (Online) (1)
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english (160)
italian (4)
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1
De novo monoallelic Reelin missense variants cause dominant..:
Riva, Martina
;
Ferreira, Sofia
;
Hayashi, Kotaro
...
Journal of Clinical Investigation. 134 (2024) 16 - p. , 2024
Link:
https://doi.org/10.1172/..
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2
Continuous spike-wave of slow sleep in a patient withKCNB1-..:
Ferrera, Giulia
;
Ricci, Emilia
;
Peron, Angela
...
Neurocase. 30 (2024) 2 - p. 68-72 , 2024
Link:
https://doi.org/10.1080/..
?
3
Multiorgan manifestations of COL4A1 and COL4A2 variants and..:
Gasparini, Simone
;
Balestrini, Simona
;
Saccaro, Luigi Francesco
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2024
Link:
https://doi.org/10.1002/..
?
4
Autism and mild epilepsy associated with a de novo missense..:
Mei, Davide
;
Parrini, Elena
;
Bianchini, Claudia
..
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2023
Link:
https://doi.org/10.1002/..
?
5
CDKL5 deficiency disorder: progressive brain atrophy may be..:
Specchio, Nicola
;
Trivisano, Marina
;
Lenge, Matteo
...
Cerebral Cortex. 33 (2023) 17 - p. 9709-9717 , 2023
Link:
https://doi.org/10.1093/..
?
6
A Novel Splicing SCN2A Mutation in an Adolescent With Low-F..:
Alagia, Marianna
;
Fecarotta, Simona
;
Romano, Alfonso
...
Pediatric Neurology. 138 (2023) - p. 58-61 , 2023
Link:
https://doi.org/10.1016/..
?
7
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Pheno..:
Galosi, Serena
;
Novelli, Maria
;
Di Rocco, Martina
...
Movement Disorders. 38 (2023) 12 - p. 2313-2314 , 2023
Link:
https://doi.org/10.1002/..
?
8
Bilateral temporal lobe dysplasia and seizure onset associa..:
Panza, Norman
;
Bianchini, Claudia
;
Cetica, Valentina
...
Epilepsia Open. 9 (2023) 1 - p. 417-423 , 2023
Link:
https://doi.org/10.1002/..
?
9
Defining causal variants in rare epilepsies: an essential t..:
McTague, Amy
;
Brunklaus, Andreas
;
Barcia, Giulia
...
European Journal of Medical Genetics. 65 (2022) 7 - p. 104531 , 2022
Link:
https://doi.org/10.1016/..
?
10
Monoallelic and biallelic mutations in RELN underlie a grad..:
Di Donato, Nataliya
;
Guerrini, Renzo
;
Billington Jr, Charles J
...
Brain. 145 (2022) 9 - p. 3274-3287 , 2022
Link:
https://doi.org/10.1093/..
?
11
Expanding the genetic and phenotypic spectrum of CHD2‐relat..:
De Maria, Beatrice
;
Balestrini, Simona
;
Mei, Davide
...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 522-533 , 2021
Link:
https://doi.org/10.1002/..
?
12
Early‐onset bradykinetic rigid syndrome and reflex seizures..:
Solazzi, Roberta
;
Fiorini, Elena
;
Parrini, Elena
...
Epileptic Disorders. 23 (2021) 5 - p. 745-748 , 2021
Link:
https://doi.org/10.1684/..
?
13
Cerebral folate transporter deficiency syndrome in three si..:
Brunetti, Sara
;
Malerba, Laura
;
Giordano, Lucio
...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2526-2531 , 2021
Link:
https://doi.org/10.1002/..
?
14
Posterior Lissencephaly Associated with Subcortical Band He..:
Contrò, Gianluca
;
Micalizzi, Alessia
;
Giangiobbe, Sara
...
Genes. 12 (2021) 8 - p. 1208 , 2021
Link:
https://doi.org/10.3390/..
?
15
Cerebellar dentate nuclei swelling: a new and early magneti..:
D'Amico, Alessandra
;
Romano, Alfonso
;
Parrini, Elena
..
Neurological Sciences. , 2021
Link:
https://doi.org/10.1007/..
1-15