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1 . Academic Journal
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
저자
by
Pavinato, Lisa
;
Stanic, Jennifer
;
Barzasi, Marta
;
Gurgone, Antonia
;
Chiantia, Giuseppe
, et al.
소스
In
Genetics in Medicine
November 2023 25(11)
Full Text (ScienceDirect)
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7 . Academic Journal
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
저자
by
Ferrero, Enza
;
Di Gregorio, Eleonora
;
Ferrero, Marta
;
Ortolan, Erika
;
Moon, Young-Ah
, et al.
소스
Human Genetics
. Aug2023, Vol. 142 Issue 8, p1055-1076. 22p.
Web of Science
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7 . Academic Journal
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
저자
by
Giovenino, Chiara
;
Trajkova, Slavica
;
Pavinato, Lisa
;
Cardaropoli, Simona
;
Pullano, Verdiana
, et al.
소스
European Journal of Human Genetics
. 31(11):1228-1236
Web of Science
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7 . Periodical
Identification of the DNA methylation signature of Mowat-Wilson syndrome
저자
by
Caraffi, Stefano Giuseppe
;
van der Laan, Liselot
;
Rooney, Kathleen
;
Trajkova, Slavica
;
Zuntini, Roberta
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-11, 11p
Web of Science
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7 . Academic Journal
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
저자
by
Pavinato, Lisa
;
Vedove, Andrea Delle
;
Carli, Diana
;
Ferrero, Marta
;
Carestiato, Silvia
, et al.
소스
Brain: A Journal of Neurology
. Feb2023, Vol. 146 Issue 2, p534-548. 15p.
Full Text (OUP)
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7 . Academic Journal
p140Cap Regulates the Composition and Localization of the NMDAR Complex in Synaptic Lipid Rafts.
저자
by
Angelini, Costanza
;
Morellato, Alessandro
;
Alfieri, Annalisa
;
Pavinato, Lisa
;
Cravero, Tiziana
, et al.
소스
Journal of Neuroscience
. 9/21/2022, Vol. 42 Issue 38, p7183-7200. 18p.
Web of Science
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7 . Academic Journal
The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders.
저자
by
Liaci, Carla
;
Prandi, Lucia
;
Pavinato, Lisa
;
Brusco, Alfredo
;
Maldotti, Mara
, et al.
소스
International Journal of Molecular Sciences
. Jun2022, Vol. 23 Issue 11, p6118-6118. 26p.
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7 . Academic Journal
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
저자
by
Scala, Marcello
;
Drouot, Nathalie
;
MacLennan, Suzanna C.
;
Wessels, Marja W.
;
Krygier, Magdalena
, et al.
소스
Human Mutation; Sep2022, Vol. 43 Issue 9, p1299-1313, 15p
Web of Science
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7 . Academic Journal
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
저자
by
Fu, Jack M.
;
Satterstrom, F. Kyle
;
Peng, Minshi
;
Brand, Harrison
;
Collins, Ryan L.
, et al.
소스
Nature Genetics
. 54(9):1320-1331
Web of Science
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7 . Academic Journal
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
저자
by
Verdura, Edgard
;
Rodríguez-Palmero, Agustí
;
Vélez-Santamaria, Valentina
;
Planas-Serra, Laura
;
de la Calle, Irene
, et al.
소스
Brain: A Journal of Neurology
. Sep2021, Vol. 144 Issue 9, p2659-2669. 11p.
Full Text (OUP)
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