Suchergebnisse - "Roullet, Jean-Baptiste"

PubPharm (113)

1

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

enthalten in: Journal of neurodevelopmental disorders | 2024

von Tokatly Latzer, I. | Roullet, J. | Afshar-Saber, W. | +14

2

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

enthalten in: Journal of neurodevelopmental disorders | 2024

von Tokatly Latzer, I. | Roullet, J. | Afshar-Saber, W. | +14

3

Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency

enthalten in: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology | 2024

von Matsubara, T. | Khan, S. | Sundaram, P. | +6

4

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

enthalten in: Molecular genetics and metabolism | 2024

von Tokatly Latzer, I. | Bertoldi, M. | Blau, N. | +21

5

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

enthalten in: Neurobiology of disease | 2024

von Afshar-Saber, W. | Teaney, N. | Winden, K. | +12

6

Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency

enthalten in: Developmental medicine and child neurology | 2023

von Tokatly Latzer, I. | Hanson, E. | Bertoldi, M. | +18

CommentIn: Dev Med Child Neurol. 2023 Dec;65(12):1544-1545. - PMID 37302007

7

Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency

enthalten in: Journal of sleep research | 2023

von Tokatly Latzer, I. | Yang, E. | Afacan, O. | +5

8

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

enthalten in: Human genetics | 2023

von Tokatly Latzer, I. | Roullet, J. | Cesaro, S. | +11

UpdateOf: Res Sq. 2023 Jul 10;:. - PMID 37503297

9

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants

enthalten in: ResearchSquare.com | 2023

von Latzer, I. | Roullet, J. | Cesaro, S. | +11

10

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

enthalten in: Human genetics | 2023

von Tokatly Latzer, I. | Roullet, J. | Cesaro, S. | +11

1
2
3
4
5
6
7
8
9
10
11
Nächster »
[12]