E-LIB Suche - Ergebnisse für: Parrini, Elena

1

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/..

2

De novo monoallelic Reelin missense variants act in a domin..:

Riva, Martina ; Ferreira, Sofia ; Hayashi, Kotaro...
Journal of Clinical Investigation. , 2024

Link: https://doi.org/10.1172/..

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

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/..

7

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/..

8

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/..

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

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/..

12

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/..

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

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/..

15

Deciphering the premature mortality in PIGA-CDG – An untold..:

Bayat, Allan ; Kløvgaard, Marius ; Johannesen, Katrine M....
Epilepsy Research. 170 (2021) - p. 106530 , 2021

Link: https://doi.org/10.1016/..