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1 . Academic Journal
Mutations of GEMIN5 are associated with coenzyme Q
10
deficiency: long-term follow-up after treatment
저자
by
Cascajo-Almenara, Marivi V.
;
Juliá-Palacios, Natalia.
;
Urreizti, Roser
;
Sánchez-Cuesta, Ana
;
Fernández-Ayala, Daniel M.
, et al.
소스
European Journal of Human Genetics
. 32(4):426-434
Scopus
Web of Science
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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)
Scopus
Web of Science
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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
Scopus
Web of Science
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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)
Full Text (ScienceDirect)
Scopus
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7 . Academic Journal
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
저자
by
Poggio, Elena
;
Barazzuol, Lucia
;
Salmaso, Andrea
;
Milani, Celeste
;
Deligiannopoulou, Adamantia
, et al.
소스
In
Genetics in Medicine
December 2023 25(12)
Full Text (ScienceDirect)
Scopus
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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
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)
Scopus
Web of Science
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7 . Academic Journal
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
저자
by
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Alfadhel, Majid
;
Alghamdi, Malak Ali
;
Anikster, Yair
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023 139(3)
Full Text (ScienceDirect)
Scopus
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7 . Academic Journal
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
저자
by
Laura Planas-Serra
;
Nathalie Launay
;
Leire Goicoechea
;
Bénédicte Heron
;
Cristina Jou
, et al.
소스
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
저자
by
Illescas, Sofía
;
Diaz‐Osorio, Yaiza
;
Serradell, Anna
;
Toro‐Soria, Lucía
;
Musokhranova, Uliana
, et al.
소스
Journal of Inherited Metabolic Disease; May2024, Vol. 47 Issue 3, p551-569, 19p
Scopus
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7 . Academic Journal
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
저자
by
Juliá-Palacios, Natalia
;
Olivella, Mireia
;
Bondarenko, Mariya Sigatullina
;
Ibáñez-Micó, Salvador
;
Muñoz-Cabello, Beatriz
, et al.
소스
Brain: A Journal of Neurology; May2024, Vol. 147 Issue 5, p1653-1666, 14p
Full Text (OUP)
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