E-LIB Suche - Ergebnisse für: Stödberg, Tommy

1

Unraveling GRIA1 neurodevelopmental disorders: Lessons lear..:

Tvergaard, Nicolai Kohring ; Tkemaladze, Tinatin ; Stödberg, Tommy...
Clinical Genetics. , 2024

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

2

Individualised human phenotype ontology gene panels improve..:

Henry, Olivia J. ; Stödberg, Tommy ; Båtelson, Sofia...
Molecular Genetics & Genomic Medicine. 11 (2023) 7 - p. , 2023

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

3

Case report: Fatal outcome of pyridoxine-dependent epilepsy..:

Aquilano, Giulia ; Linnér, Agnes ; Ygberg, Sofia..
Frontiers in Pediatrics. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

4

Outcome at age 7 of epilepsy presenting in the first 2 year..:

Stödberg, Tommy ; Tomson, Torbjörn ; Anderlid, Britt‐Marie...
Epilepsia. 63 (2022) 8 - p. 2096-2107 , 2022

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

5

Epilepsy syndromes, etiologies, and the use of next‐generat..:

Stödberg, Tommy ; Tomson, Torbjörn ; Barbaro, Michela...
Epilepsia. 61 (2020) 11 - p. 2486-2499 , 2020

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

6

MEG and navigated TMS jointly enable spatially accurate app..:

Islam, Mominul ; Westin, Karin ; Carvalho, Ana...
Brain Stimulation. 12 (2019) 5 - p. 1312-1314 , 2019

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

7

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused..:

Jensen, Kristian Vestergaard ; Frid, Maria ; Stödberg, Tommy...
JIMD Reports. 50 (2019) 1 - p. 1-8 , 2019

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

8

Benign paroxysmal torticollis of infancy does not lead to n..:

Danielsson, Annika ; Anderlid, Britt‐Marie ; Stödberg, Tommy...
Developmental Medicine & Child Neurology. 60 (2018) 12 - p. 1251-1255 , 2018

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

9

An LC–MS/MS-Based Method for the Quantification of Pyridox(..:

Wilson, Matthew P. ; Footitt, Emma J. ; Papandreou, Apostolos...
Analytical Chemistry. 89 (2017) 17 - p. 8892-8900 , 2017

Link: https://doi.org/10.1021/..

10

Mutations in SLC12A5 in epilepsy of infancy with migrating ..:

Stödberg, Tommy ; McTague, Amy ; Ruiz, Arnaud J....
Nature Communications. 6 (2015) 1 - p. , 2015

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

11

A de novo gain-of-function mutation in SCN11A causes loss o..:

Leipold, Enrico ; Liebmann, Lutz ; Korenke, G Christoph...
Nature Genetics. 45 (2013) 11 - p. 1399-1404 , 2013

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

12

SLC25A22is a novel gene for migrating partial seizures in i..:

Poduri, Annapurna ; Heinzen, Erin L. ; Chitsazzadeh, Vida...
Annals of Neurology. 74 (2013) 6 - p. 873-882 , 2013

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

13

Dolichol kinase deficiency (DOLK-CDG) with a purely neurolo..:

Helander, Anders ; Stödberg, Tommy ; Jaeken, Jaak...
Molecular Genetics and Metabolism. 110 (2013) 3 - p. 342-344 , 2013

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

14

Homozygous PLCB1 deletion associated with malignant migrati..:

Poduri, Annapurna ; Chopra, Sameer S. ; Neilan, Edward G....
Epilepsia. 53 (2012) 8 - p. , 2012

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

15

Late Onset Bradyarrhythmia during Vagus Nerve Stimulation:

Åmark, Per ; Stödberg, Tommy ; Wallstedt, Lars
Epilepsia. 48 (2007) 5 - p. 1023-1024 , 2007

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