E-LIB Suche - Ergebnisse für: Leventer, Richard J.

1

Diagnostic utility of exome sequencing followed by research..:

Kooshavar, Daniz ; Amor, David J ; Boggs, Kirsten...
Brain Communications. 6 (2024) 2 - p. , 2024

Link: https://doi.org/10.1093/..

2

Why did my seizures start now? Influences of lesion connect..:

Macdonald‐Laurs, Emma ; Warren, Aaron E. L. ; Leventer, Richard J..
Epilepsia. 65 (2024) 6 - p. 1644-1657 , 2024

Link: https://doi.org/10.1111/..

3

WWOX developmental and epileptic encephalopathy: Understand..:

Oliver, Karen L. ; Trivisano, Marina ; Mandelstam, Simone A....
Epilepsia. 64 (2023) 5 - p. 1351-1367 , 2023

Link: https://doi.org/10.1111/..

4

PathogenicRHEBSomatic Variant in a Child With Tuberous Scle..:

Lee, Wei Shern ; Macdonald-Laurs, Emma ; Stephenson, Sarah...
Neurology. 101 (2023) 2 - p. 78-82 , 2023

Link: https://doi.org/10.1212/..

5

Aicardi Syndrome Is a Genetically Heterogeneous Disorder:

Ha, Thuong T. ; Burgess, Rosemary ; Newman, Morgan...
Genes. 14 (2023) 8 - p. 1565 , 2023

Link: https://doi.org/10.3390/..

6

The clinical, imaging, pathological and genetic landscape o..:

Macdonald-Laurs, Emma ; Warren, Aaron E L ; Francis, Peter...
Brain. 147 (2023) 4 - p. 1264-1277 , 2023

Link: https://doi.org/10.1093/..

7

Inhibitory control in children with agenesis of the corpus ..:

Soon, Emilyn ; Siffredi, Vanessa ; Anderson, Peter J....
Journal of the International Neuropsychological Society. 30 (2023) 1 - p. 18-26 , 2023

Link: https://doi.org/10.1017/..

8

Droplet digital PCR as a first-tier molecular diagnostic to..:

Lee, Wei Shern ; Leventer, Richard J ; Lockhart, Paul J
Brain. 145 (2022) 12 - p. e119-e121 , 2022

Link: https://doi.org/10.1093/..

9

Basal ganglia dysplasia and mTORopathy: A potential cause o..:

Lee, Wei Shern ; Macdonald‐Laurs, Emma ; Stephenson, Sarah E M...
Epilepsia Open. 8 (2022) 1 - p. 205-210 , 2022

Link: https://doi.org/10.1002/..

10

Sporadic hypothalamic hamartoma is a ciliopathy with somati..:

Green, Timothy E ; Motelow, Joshua E ; Bennett, Mark F...
Human Molecular Genetics. 31 (2022) 14 - p. 2307-2316 , 2022

Link: https://doi.org/10.1093/..

11

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Ty..:

Barbier, Mathieu ; Bahlo, Melanie ; Pennisi, Alessandra...
Annals of Neurology. 92 (2022) 1 - p. 122-137 , 2022

Link: https://doi.org/10.1002/..

12

Cortical Dysplasia and the mTOR Pathway: How the Study of H..:

Lee, Wei Shern ; Baldassari, Sara ; Stephenson, Sarah E. M....
International Journal of Molecular Sciences. 23 (2022) 3 - p. 1344 , 2022

Link: https://doi.org/10.3390/..

13

Intrinsic and secondary epileptogenicity in focal cortical ..:

Macdonald‐Laurs, Emma ; Warren, Aaron E. L. ; Lee, Wei Shern...
Epilepsia. 64 (2022) 2 - p. 348-363 , 2022

Link: https://doi.org/10.1111/..

14

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/..

15

Clinical seizure manifestations in the absence of synaptic ..:

Macdonald‐Laurs, Emma ; Bailey, Catherine A. ; Barton, Sarah...
Epileptic Disorders. 23 (2021) 1 - p. 167-172 , 2021

Link: https://doi.org/10.1684/..