E-LIB Suche - Ergebnisse für: Mandelstam, Simone

1

Aicardi Syndrome Is a Genetically Heterogeneous Disorder:

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

2

A cryptic pathogenic NDUFV1 variant identified by RNA‐seq i..:

Kiss, Sharmila ; Christodoulou, John ; Thorburn, David R....
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1599-1606 , 2023

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

3

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/..

4

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/..

5

One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of..:

Macdonald-Laurs, Emma ; Maixner, Wirginia J. ; Bailey, Catherine A....
Neurology. 97 (2021) 2 - p. , 2021

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

6

The severe epilepsy syndromes of infancy: A population‐base..:

Howell, Katherine B. ; Freeman, Jeremy L. ; Mackay, Mark T....
Epilepsia. 62 (2021) 2 - p. 358-370 , 2021

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

7

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/..

8

Infantile‐onset myoclonic developmental and epileptic encep..:

de Valles‐Ibáñez, Guillem ; Hildebrand, Michael S. ; Bahlo, Melanie...
Epilepsia Open. 7 (2021) 1 - p. 170-180 , 2021

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

9

DRAXIN regulates interhemispheric fissure remodelling to in..:

Morcom, Laura ; Edwards, Timothy J ; Rider, Eric...
eLife. 10 (2021) - p. , 2021

Link: https://doi.org/10.7554/..

10

Resection of tuber centers only for seizure control in tube..:

Stephenson, Sarah E.M. ; Maixner, Wirginia J. ; Barton, Sarah M....
Epilepsy Research. 171 (2021) - p. 106572 , 2021

Link: https://doi.org/10.1016/..

11

NEXMIF encephalopathy: an X-linked disorder with male and f..:

Stamberger, Hannah ; Hammer, Trine B. ; Gardella, Elena...
Genetics in Medicine. 23 (2021) 2 - p. 363-373 , 2021

Link: https://doi.org/10.1038/..

12

Genetic heterogeneity of polymicrogyria: study of 123 patie..:

Stutterd, Chloe A ; Brock, Stefanie ; Stouffs, Katrien...
Brain Communications. 3 (2020) 1 - p. , 2020

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

13

Early‐onset vitamin B6‐dependent epilepsy due to pathogenic..:

Heath, Oliver ; Pitt, James ; Mandelstam, Simone...
JIMD Reports. 58 (2020) 1 - p. 3-11 , 2020

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

14

Neuronal ceroid lipofuscinosis type 2: an Australian case s..:

Johnson, Alexandra M ; Mandelstam, Simone ; Andrews, Ian...
Journal of Paediatrics and Child Health. 56 (2020) 8 - p. 1210-1218 , 2020

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

15

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons..:

Lee, Wei Shern ; Stephenson, Sarah E. M. ; Howell, Katherine B....
Annals of Clinical and Translational Neurology. 6 (2019) 7 - p. 1338-1344 , 2019

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