Medical NeuroScience Cluster Publications by
Krenn Martin, Dr.med.univ. PhD:

2021 2020 2019 2018 2017 2014

2021 Original Articles

• Rath J, Zulehner G, Schober B, Grisold A, Krenn M, Cetin H, Zimprich F (2021) Cerebrospinal fluid analysis in Guillain–Barré syndrome: value of albumin quotients J Neurol,

2020 Original Articles

• 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
• 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

2019 Original Articles

• 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, 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
• 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

2018 Original Articles

• 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)

2017 Original Articles

• 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
• Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack T, Strom T, Schänzer A, Kilimann M, Schmidt R, Schmetterer K, Zimprich A, Boztug K, Hahn A, Zimprich F (2017) Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum J Neurol,
• Krenn M, Zulehner G, Hotzy C, Rath J, Stogmann E, Wagner M, Haack T, Strom T, Zimprich A, Zimprich F (2017) Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene Eur J Neurol, 24 (5): 741-747
• 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

2014 Original Articles

• Krenn M, Keir G, Wieshmann U (2014) CANOMAD responding to weekly treatment with intravenous immunoglobulin (IVIg) BMJ Case Rep, 2014 (apr10 1): bcr2013202545-bcr2013202545