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1.

De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, André; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M C; Haack, Tobias B; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane.

Hum Mol Genet; 31(3): 440-454, 2022 02 03.

Artículo en Inglés | MEDLINE | ID: mdl-34505148

2.

Reduced Interhemispheric Coherence and Cognition in Children with Fetal Alcohol Spectrum Disorder (FASD)-A Quantitative EEG Study.

Gerstner, Thorsten; Henning, Oliver; Løhaugen, Gro; Skranes, Jon.

Neuropediatrics; 2024 Mar 06.

Artículo en Inglés | MEDLINE | ID: mdl-38320603

3.

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; McLaughlin, Heather; Bolz, Hanno J; Zechner, Ulrich; Bryant, Emily; McDonough, Tiffani; Kindler, Stefan; Bähring, Robert.

Hum Mol Genet; 30(23): 2300-2314, 2021 11 16.

Artículo en Inglés | MEDLINE | ID: mdl-34245260

4.

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

Knaus, Alexej; Kortüm, Fanny; Kleefstra, Tjitske; Stray-Pedersen, Asbjørg; Dukic, Dejan; Murakami, Yoshiko; Gerstner, Thorsten; van Bokhoven, Hans; Iqbal, Zafar; Horn, Denise; Kinoshita, Taroh; Hempel, Maja; Krawitz, Peter M.

Am J Hum Genet; 105(2): 395-402, 2019 08 01.

Artículo en Inglés | MEDLINE | ID: mdl-31353022

5.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N; Muzny, Donna M; Tarailo-Graovac, Maja; van Karnebeek, Clara D M; Lupski, James R; Ren, Dejian; Yoon, Grace.

Am J Hum Genet; 98(1): 202-9, 2016 Jan 07.

Artículo en Inglés | MEDLINE | ID: mdl-26708751

6.

Treating women of reproductive age with valproate. / Valproatbehandling av fertile kvinner.

Bjørk, Marte-Helene; Gerstner, Thorsten Alfons; Taubøll, Erik.

Tidsskr Nor Laegeforen; 140(7)2020 05 05.

Artículo en Inglés, Noruego | MEDLINE | ID: mdl-32378849

7.

M.H. Bjørk and colleagues respond. / M.H. Bjørk og medarbeidere svarer.

Bjørk, Marte-Helene; Gerstner, Thorsten Alfons; Taubøll, Erik.

Tidsskr Nor Laegeforen; 140(9)2020 06 16.

Artículo en Noruego | MEDLINE | ID: mdl-32549013

8.

Frequency of epilepsy and pathological EEG findings in a Norwegian sample of children with fetal alcohol spectrum disorder: Impact on cognition and adaptive functioning.

Gerstner, Thorsten; Henning, Oliver; Løhaugen, Gro; Skranes, Jon.

Alcohol Clin Exp Res (Hoboken); 48(2): 309-318, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-38105112

9.

Sleep disturbances in Norwegian children with fetal alcohol spectrum disorders (FASD) with and without a diagnosis of attention-deficit hyperactivity disorder or epilepsy.

Gerstner, Thorsten; Saevareid, Hans Inge; Johnsen, Åse Ribe; Løhaugen, Gro; Skranes, Jon.

Alcohol Clin Exp Res (Hoboken); 47(3): 589-599, 2023 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-36811179

10.

The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.

Jamali, Ahmed; Kristensen, Erle; Tangeraas, Trine; Arntsen, Vibeke; Sikiric, Alma; Kupliauskiene, Guste; Myren-Svelstad, Sverre; Berland, Siren; Sejersted, Yngve; Gerstner, Thorsten; Hassel, Bjørnar; Bindoff, Laurence A; Brodtkorb, Eylert.

Epilepsy Res; 190: 107099, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36731270

11.

Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.

de Prisco, Nicola; Ford, Caitlin; Elrod, Nathan D; Lee, Winston; Tang, Lauren C; Huang, Kai-Lieh; Lin, Ai; Ji, Ping; Jonnakuti, Venkata S; Boyle, Lia; Cabaj, Maximilian; Botta, Salvatore; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Rosenfeld, Jill A; Bi, Weimin; Tveten, Kristian; Prescott, Trine; Gerstner, Thorsten; Schroeder, Audrey; Fong, Chin-To; George-Abraham, Jaya K; Buchanan, Catherine A; Hanson-Khan, Andrea; Bernstein, Jonathan A; Nella, Aikaterini A; Chung, Wendy K; Brandt, Vicky; Jovanovic, Marko; Targoff, Kimara L; Yalamanchili, Hari Krishna; Wagner, Eric J; Gennarino, Vincenzo A.

Sci Adv; 9(7): eade4814, 2023 02 17.

Artículo en Inglés | MEDLINE | ID: mdl-36800428

12.

Congenital mirror movements of the hands.

Gerstner, Thorsten; Moland, Siri; Koht, Jeanette.

Tidsskr Nor Laegeforen; 135(20): 1852, 2015 Nov 03.

Artículo en Inglés, Noruego | MEDLINE | ID: mdl-26534812

13.

A Survey on Cannabinoid Treatment of Pediatric Epilepsy Among Neuropediatricians in Scandinavia and Germany.

Klingenberg, Claus; Mouslet, George; Hjalgrim, Helle; Gerstner, Thorsten.

Front Pediatr; 8: 416, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-32850532

14.

Autonomic nervous system function in infants and adolescents: impact of autonomic tests on heart rate variability.

Longin, Elke; Dimitriadis, Carmen; Shazi, Samina; Gerstner, Thorsten; Lenz, Tamara; König, Stephan.

Pediatr Cardiol; 30(3): 311-24, 2009 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-19037686

15.

High incidence of vaproate-induced coagulation disorders in children receiving valproic acid: a prospective study.

Koenig, Stephan; Gerstner, Thorsten; Keller, Anja; Teich, Martin; Longin, Elke; Dempfle, Carl-Erik.

Blood Coagul Fibrinolysis; 19(5): 375-82, 2008 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-18600085

16.

Vagus nerve stimulation improves severely impaired heart rate variability in a patient with Lennox-Gastaut-Syndrome.

Koenig, Stephan A; Longin, Elke; Bell, Nellie; Reinhard, Julia; Gerstner, Thorsten.

Seizure; 17(5): 469-72, 2008 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-18096413

17.

Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099].

Jamali, Ahmed; Kristensen, Erle; Tangeraas, Trine; Arntsen, Vibeke; Sikiric, Alma; Kupliauskiene, Guste; Myren-Svelstad, Sverre; Berland, Siren; Sejersted, Yngve; Gerstner, Thorsten; Hassel, Bjørnar; Bindoff, Laurence A; Brodtkorb, Eylert.

Epilepsy Res; 198: 107113, 2023 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-36906427

18.

Valproic acid-induced pancreatitis: 16 new cases and a review of the literature.

Gerstner, Thorsten; Büsing, Deike; Bell, Nellie; Longin, Elke; Kasper, Johannes-Martin; Klostermann, Wolfgang; Hebing, Burkhard; Hanefeld, Folker; Eckel, Ulrich; Hoffmann, Reiner; Bettendorf, Ulrich; Weidner, Birgit; Wiemer-Kruel, Adelheid; Brockmann, Knut; Neumann, Fritz-Wilhelm; Sandrieser, Thorsten; Wolff, Markus; König, Stephan.

J Gastroenterol; 42(1): 39-48, 2007 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-17322992

19.

Reversible hepatotoxicity, pancreatitis, coagulation disorder and simultaneous bone marrow suppression with valproate in a 2-year-old girl.

Gerstner, Thorsten; Bauer, Marc-Oliver; Longin, Elke; Bell, Nellie; Koenig, Stephan A.

Seizure; 16(6): 554-6, 2007 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-17493839

20.

Internet-based knowledge management database for children and adults with epilepsy: a possible model project for evidence-based medicine in the future.

Koenig, Stephan A; Dobson, Peter; Longin, Elke; Michalec, Dagmera; Gerstner, Thorsten; Taylor, James.

Seizure; 16(8): 703-8, 2007 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-17662625

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