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1 . Academic Journal
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
저자
by
Tokatly Latzer, Itay
;
Roullet, Jean-Baptiste
;
Afshar-Saber, Wardiya
;
Lee, Henry H. C.
;
Bertoldi, Mariarita
, et al.
소스
Journal of Neurodevelopmental Disorders
. 16(1)
Open Access (BioMed Central)
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7 . Academic Journal
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
저자
by
Itay Tokatly Latzer
;
Jean-Baptiste Roullet
;
Wardiya Afshar-Saber
;
Henry H. C. Lee
;
Mariarita Bertoldi
, et al.
소스
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-15 (2024)
Open Access (BioMed Central)
Open Access (DOAJ)
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7 . Academic Journal
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
저자
by
Tokatly Latzer, Itay
;
Roullet, Jean-Baptiste
;
Cesaro, Samuele
;
DiBacco, Melissa L.
;
Arning, Erland
, et al.
소스
Human Genetics
. 142(12):1755-1776
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7 . Academic Journal
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
저자
by
Morales-Romero, Blai
;
Muñoz-Pujol, Gerard
;
Artuch, Rafael
;
García-Cazorla, Angels
;
O'Callaghan, Mar
, et al.
소스
In
Molecular Genetics and Metabolism
July 2024 142(3)
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7 . Academic Journal
EEG connectivity patterns in response to gaming and learning-based cognitive stimulations in Rett syndrome
저자
by
Tost, Ana
;
Romero, Sergio
;
Alonso, Joan F.
;
Bachiller, Alejandro
;
Serna, Leidy-Yanet
, et al.
소스
In
Research in Developmental Disabilities
July 2024 150
Full Text (ScienceDirect)
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7 . Academic Journal
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
저자
by
Tokatly Latzer, Itay
;
Bertoldi, Mariarita
;
Blau, Nenad
;
DiBacco, Melissa L.
;
Elsea, Sarah H.
, et al.
소스
In
Molecular Genetics and Metabolism
May 2024 142(1)
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7 . Academic Journal
COMPREHENSIVE DELINEATION AND PRECISION MEDICINE OF GRIN-RELATED NEURODEVELOPMENTAL DISORDERS, A PRIMARY DISTURBANCE OF THE NMDA RECEPTOR
저자
by
Mireia Olivella
;
Ana Santos-Gómez
;
Natalia Juliá-Palacios
;
Sílvia Locubiche Serra
;
David Soto
, et al.
소스
IBRO Neuroscience Reports, Vol 15, Iss , Pp S71- (2023)
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7 . Academic Journal
MITOCHONDRIAL MODULATION WITH LERIGLITAZONE AS A POTENTIAL TREATMENT FOR RETT SYNDROME
저자
by
Uliana Musokhranova
;
Alfonso Oyarzábal
;
Cristina Grau
;
Àngels García-Cazorla
.
소스
IBRO Neuroscience Reports, Vol 15, Iss , Pp S122- (2023)
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6 . Academic Journal
STUDY OF CELL TRAFFICKING FOR THE DESCRIPTION OF PERSONALIZED THERAPIES IN PEDIATRIC MOVEMENT DISORDERS
저자
by
Yaiza Díaz-Osorio
;
Anna Serradell
;
Alejandra Darling
;
Àngels García-Cazorla
;
Alfonso Oyarzábal
.
소스
IBRO Neuroscience Reports, Vol 15, Iss , Pp S552- (2023)
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7 . Academic Journal
MULTI-OMICS CHARACTERIZATION OF NEURODEVELOPMENTAL DISORDERS
저자
by
Katia Sofia Illescas
;
Guerau Fernández Isern
;
Alfonso Oyarzábal
;
Àngels García-Cazorla
.
소스
IBRO Neuroscience Reports, Vol 15, Iss , Pp S583- (2023)
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