Sortiert nach PI

Publikationen - sortiert nach Principle Investigator

• Hafner J, Zadrazil M, Grisold A, Ricken G, Krenn M, Kitzmantl D, Pollreisz A, Gleiss A, Schmidt-Erfurth U (2020) Retinal and Corneal Neurodegeneration and Their Association with Systemic Signs of Peripheral Neuropathy in Type 2 Diabetes Am J Ophthalmol, 209: 197-205
• Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, Milenkovic I, Abicht A, Biskup S, Roser T, Shotelersuk V, Tacke M, Kuersten M, Wagner M, Borggraefe I, Suphapeetiporn K, von Stülpnagel C (2020) ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response J Clin Neurosci, 72: 31-38
• Krenn M, Wagner M, Hotzy C, Graf E, Weber S, Brunet T, Lorenz-Depiereux B, Kasprian G, Aull-Watschinger S, Pataraia E, Stogmann E, Zimprich A, Strom T, Meitinger T, Zimprich F (2020) Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes J Med Genet, 57 (9): 624-633
• Wolking S, Moreau C, Nies A, Schaeffeler E, McCormack M, Auce P, Avbersek A, Becker F, Krenn M, Møller R, Nikanorova M, Weber Y, Weckhuysen S, Cavalleri G, Delanty N, Depondt C, Johnson M, Koeleman B, Kunz W, Marson A, Sander J, Sills G, Striano P, Zara F, Zimprich F, Schwab M, Krause R, Sisodiya S, Cossette P, Girard S, Lerche H, (2020) Testing association of rare genetic variants with resistance to three common antiseizure medications Epilepsia, 61 (4): 657-666
• Wolking S, Schulz H, Nies A, McCormack M, Schaeffeler E, Auce P, Avbersek A, Becker F, Klein K, Krenn M, Møller R, Nikanorova M, Weckhuysen S, Consortium E, Cavalleri G, Delanty N, Depondt C, Johnson M, Koeleman B, Kunz W, Marson A, Sander J, Sills G, Striano P, Zara F, Zimprich F, Weber Y, Krause R, Sisodiya S, Schwab M, Sander T, Lerche H (2020) Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study Pharmacogenomics, 21 (5): 325-335
• Gerner M, Ziegler L, Schmidt R, Krenn M, Zimprich F, Uyanik‐Ünal K, Konstantopoulou V, Derdak S, Del Favero G, Schwarzinger I, Boztug K, Schmetterer K (2020) The TGF‐b/SOX4 axis and ROS‐driven autophagy co‐mediate CD39 expression in regulatory T‐cells FASEB J, 34 (6): 8367-8384
• Boonsimma P, Michael Gasser M, Netbaramee W, Wechapinan T, Srichomthong C, Ittiwut C, Wagner M, Krenn M, Zimprich F, Abicht A, Biskup S, Roser T, Borggraefe I, Suphapeetiporn K, Shotelersuk V (2020) Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases Gene, 749: 144709
• Schijven D, Stevelink R, McCormack M, van Rheenen W, Luykx J, Koeleman B, Veldink J (2020) Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy Neurobiol Aging, 92: 153.e1-153.e5
• Krenn M, Grisold A, Wohlfarth P, Rath J, Cetin H, Koneczny I, Zimprich F (2020) Pathomechanisms and Clinical Implications of Myasthenic Syndromes Exacerbated and Induced by Medical Treatments Front Mol Neurosci, 13
• Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert M, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera G, Wojcik M, Pajusalu S, Õunap K, Schatz U, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal D, Riedhammer K, Brunet T, Alhaddad B, Berutti R, Strom T, Hecht M, Baumann M, Wolf M, Telegraf (2020) Monogenic variants in dystonia: an exome-wide sequencing study Lancet Neurol, 19 (11): 908-918

• Krenn M, Tomschik M, Rath J, Cetin H, Grisold A, Zulehner G, Milenkovic I, Stogmann E, Zimprich A, Strom T, Meitinger T, Wagner M, Zimprich F (2019) Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach Eur J Neurol, 27 (1): 51-61
• Berghuis B, Stapleton C, Sonsma A, Hulst J, de Haan G, Lindhout D, Demurtas R, Krause R, Depondt C, Kunz W, Zara F, Striano P, Craig J, Auce P, Marson A, Stefansson H, O'Brien T, Johnson M, Sills G, Wolking S, Lerche H, Sisodiya S, Sander J, Cavalleri G, Koeleman B, McCormack M, (2019) A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine Epilepsia Open, 4 (1): 102-109
• Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project (2019) Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy N Engl J Med, 380 (16): e24
• Krenn M, Knaus A, Westphal D, Wortmann S, Polster T, Woermann F, Karenfort M, Mayatepek E, Meitinger T, Wagner M, Distelmaier F (2019) Biallelic mutations in PIGP cause developmental and epileptic encephalopathy Ann Clin Transl Neurol, 6 (5): 968-973
• Krenn M, Milenkovic I, Eckstein G, Zimprich F, Meitinger T, Foki T, Wagner M (2019) Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing Neurol Genet, 5 (4): e346
• Krenn M, Ernst M, Tomschik M, Treven M, Wagner M, Westphal D, Meitinger T, Pataraia E, Zimprich F, Aull‐Watschinger S (2019) Phenotypic variability of GABRA1 ‐related epilepsy in monozygotic twins Ann Clin Transl Neurol, 6 (11): 2317-2322
• Stevelink R, Pangilinan F, Jansen F, Braun K, Molloy A, Brody L, Koeleman B (2019) Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy Mol Genet Metab, 21: 100518
• Rath J, Brunner I, Tomschik M, Zulehner G, Hilger E, Krenn M, Paul A, Cetin H, Zimprich F (2019) Frequency and clinical features of treatment-refractory myasthenia gravis J Neurol, 267 (4): 1004-1011

• May P, Girard S, Harrer M, Bobbili D, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad C, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert A, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs I, Reid C, Striano P, Caglayan H, Siren A, Everett K, Møller R, Hjalgrim H, Muhle H, Helbig I, Kunz W, Weber Y, Weckhuysen S, Jonghe P, Sisodiya S, Nabbout R, Franceschetti S, Coppola A, Vari M, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein K, Rosenow F, Nguyen D, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément J, Cieuta-Walti C, Sills G, Auce P, Francis B, Johnson M, Marson A, Berghuis B, Sander J, Avbersek A, McCormack M, Cavalleri G, Delanty N, Depondt (2018) Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study Lancet Neurol, 17 (8): 699-708
• International League Against Epilepsy Consortium on Complex Epilepsies (2018) Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies Nat Commun, 9 (1)
• Reinthaler E, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, Pferschy S, Schmied C, Leutmezer F, Keilani M, Lill C, Hoffjan S, Epplen J, Zettl U, Hecker M, Deutschländer A, Meuth S, Ahram M, Mustafa B, El-Khateeb M, Vilariño-Güell C, Sadovnick A, Zimprich F, Tomkinson B, Strom T, Kristoferitsch W, Lassmann H, Zimprich A (2018) TPP2 mutation associated with sterile brain inflammation mimicking MS Neurol Genet, 4 (6): e285

• McCormack M, Gui H, Ingason A, Speed D, Wright G, Zhang E, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills G, Marson A, Auce P, Brodie M, Francis B, Johnson M, Koeleman B, Striano P, Coppola A, Zara F, Kunz W, Sander J, Lerche H, Klein K, Weckhuysen S, Krenn M, Gudmundsson L, Stefánsson K, Krause R, Shear N, Ross C, Delanty N, Pirmohamed M, Carleton B, Cendes F, Lopes-Cendes I, Liao W, O'Brien T, Sisodiya S, Cherny S, Kwan P, Baum L, Cavalleri G (2017) Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients Neurology, : 10.1212/WNL.0000000000004853
• Androsova G, Krause R, Borghei M, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri G, Craig J, Delanty N, Koeleman B, Kunz W, Lerche H, Marson A, Sander J, Sills G, Striano P, Zara F, Sisodiya S, Depondt C; EpiPGX Consortium. (2017) Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis Epilepsia, 58 (10): 1734-1741
• Berghuis B, van der Palen J, de Haan G, Lindhout D, Koeleman B, Sander J; EpiPGX Consortium. (2017) Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy Epilepsia, 58 (7): 1227-1233
• Androsova G, Krause R, Borghei M, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri G, Craig J, Delanty N, Koeleman B, Kunz W, Lerche H, Marson A, Sander J, Sills G, Striano P, Zara F, Sisodiya S, Depondt C, EpiPGX Consortium (2017) Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis Epilepsia,
• Rath J, Mauritz M, Zulehner G, Hilger E, Cetin H, Kasprian G, Auff E, Zimprich F (2017) Iodinated contrast agents in patients with myasthenia gravis: a retrospective cohort study J Neurol, 264 (6): 1209-1217

• Lal D, Reinthaler E, Dejanovic B, May P, Thiele H, Lehesjoki A, Schwarz G, Riesch E, Ikram M, Duijn C, Uitterlinden A, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A, Gormley P, Becker F, Weber Y, Cilio M, Kunz W, Krause R, Zimprich F, Lemke J, Nürnberg P, Sander T, Lerche H, Neubauer B, , (2016) Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes PlosOne, 11 (3): e0150426

• Cetin H, Rath J, Füzi J, Reichardt B, Fülöp G, Koppi S, Erdler M, Ransmayr G, Weber J, Neumann K, Hagmann M, Löscher W, Auff E, Zimprich F (2015) Epidemiology of Amyotrophic Lateral Sclerosis and Effect of Riluzole on Disease Course Neuroepidemiol, 44 (1): 6-15
• Reinthaler E, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich D, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen G, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram M, van Duijn C, Uitterlinden A, Hofman A, Altmüller J, Kawalia A, Toliat M, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier J, Schwarz G, Neubauer B, Zimprich F, (2015) Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes Ann Neurol, 77 (6): 972-986
• Lal D, Ruppert A, Trucks H, Schulz H, de Kovel C, Kasteleijn-Nolst Trenité D, Sonsma A, Koeleman B, Lindhout D, Weber Y, Lerche H, Kapser C, Schankin C, Kunz W, Surges R, Elger C, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein K, Rosenow F, Neubauer B, Reinthaler E, Zimprich F, Feucht M, Møller R, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P, Sander T, (2015) Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies PLoS Genet, 11 (5): e1005226
• Cetin H, Klickovic U, Rath J, Zulehner G, Füzi J, Reichardt B, Hagmann M, Wanschitz J, Löscher W, Auff E, Zimprich F (2015) Associations between co-medications and survival in ALS—a cohort study from Austria J Neurol, 262 (7): 1698-1705
• Reinthaler E, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich D, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen G, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram M, van Duijn C, Uitterlinden A, Hofman A, Altmüller J, Kawalia A, Toliat M, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier J, Schwarz G, Neubauer B, Zimprich F (2015) Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes Ann Neurol, 77 (6): 972-986

• Lal D, Reinthaler E, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke J, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubaue (2014) DEPDC5 mutations in genetic focal epilepsies of childhood Ann Neurol, 75 (5): 788-792