Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
(min 2 characters)

Ingo Kurth

Prof.
RWTH Aachen University
Institute for Human Genetics
Pauwelsstraße 30, 52074 Aachen, Germany
Aachen 52074
+49 241 8080178
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Loose S, Lischka A, Kuehs S, Nau C, Heinemann SH, Kurth I, Leipold E. Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels. Pflugers Arch. 2023 Sep 11. PMID: 37695396.
      Citations:    Fields:    
    2. Foronda H, Fu Y, Covarrubias-Pinto A, Bocker HT, Gonz?lez A, Seemann E, Franzka P, Bock A, Bhaskara RM, Liebmann L, Hoffmann ME, Katona I, Koch N, Weis J, Kurth I, Gleeson JG, Reggiori F, Hummer G, Kessels MM, Qualmann B, Mari M, Dikic I, H?bner CA. Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy. Nature. 2023 Jun; 618(7964):402-410. PMID: 37225994; PMCID: PMC10247384.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    3. Rolles B, Meyer R, Begemann M, Elbracht M, Jost E, Stelljes M, Kurth I, Br?mmendorf TH, Silling G. DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation. Blood Cancer J. 2023 05 10; 13(1):73. PMID: 37160870; PMCID: PMC10170132.
      Citations: 2     Fields:    Translation:HumansCells
    4. Mattern L, Begemann M, Delbr?ck H, Holschbach P, Schr?der S, Schacht SM, Kurth I, Elbracht M. Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco. Bone Rep. 2023 Jun; 18:101683. PMID: 37214758; PMCID: PMC10193157.
      Citations:    
    5. Tometten M, Kirschner M, Meyer R, Begemann M, Halfmeyer I, Vieri M, Kricheldorf K, Maurer A, Platzbecker U, Radsak M, Schafhausen P, Corbacioglu S, H?chsmann B, Matthias Wilk C, Hinze C, Chromik J, Heuser M, Kreuter M, Koschmieder S, Panse J, Isfort S, Kurth I, Br?mmendorf TH, Beier F. Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria. Hemasphere. 2023 May; 7(5):e874. PMID: 37096215; PMCID: PMC10121438.
      Citations: 1     
    6. Bilo L, Ochoa E, Lee S, Dey D, Kurth I, Kraft F, Rodger F, Docquier F, Toribio A, Bottolo L, Binder G, Fekete G, Elbracht M, Maher ER, Begemann M, Eggermann T. Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach. Clin Epigenetics. 2023 03 01; 15(1):35. PMID: 36859312; PMCID: PMC9979536.
      Citations: 1     Fields:    Translation:Cells
    7. Gaebler AJ, Fakour N, St?hr F, Zweerings J, Taebi A, Suslova M, Dukart J, Hipp JF, Adhikari BM, Kochunov P, Muthukumaraswamy SD, Forsyth A, Eggermann T, Kraft F, Kurth I, Paulzen M, Gr?nder G, Schneider F, Mathiak K. Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI. Transl Psychiatry. 2023 02 16; 13(1):59. PMID: 36797233; PMCID: PMC9935542.
      Citations: 3     Fields:    Translation:Humans
    8. Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, H?lsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature. 2023 02; 614(7948):564-571. PMID: 36755093; PMCID: PMC9931588.
      Citations: 22     Fields:    Translation:HumansCells
    9. Kleinle S, Scholz V, Benet-Pag?s A, Wohlfrom T, Gehling S, Scharf F, Rost S, Prott EC, Grinzinger S, Hotter A, Haug V, Niemeier S, Wiethoff-Ubrig L, Hagenacker T, Goldhahn K, von Moers A, Walter MC, Reilich P, Eggermann K, Kraft F, Kurth I, Erdmann H, Holinski-Feder E, Neuhann T, Abicht A, Prott EC, Grinzinger S, Hotter A, Haug V, Niemeier S, Wiethoff-Ubrig L, Goldhahn K, von Moers A, Walter MC, Reilich P, Eggermann K, Kraft F, Kurth I. Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort. J Neuromuscul Dis. 2023; 10(5):835-846. PMID: 37424474.
      Citations: 1     Fields:    Translation:Humans
    10. Knopp C, Steiner R, Lausberg E, Hoegen CV, Busse S, Meyer R, Eggermann K, Sch?ler H, Begemann M, Eggermann T, Kurth I, Schulz JB, Elbracht M, Maier A. Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability. Dtsch Arztebl Int. 2022 12 27; 119(51-52):895-896. PMID: 36892325; PMCID: PMC10011718.
      Citations:    Fields:    Translation:Humans
    11. Kuehs S, Teege L, Hellberg AK, Stanke C, Haag N, Kurth I, Blum R, Nau C, Leipold E. Isolation and transfection of myenteric neurons from mice for patch-clamp applications. Front Mol Neurosci. 2022; 15:1076187. PMID: 36618826; PMCID: PMC9810798.
      Citations:    
    12. Schreibing F, Hannani MT, Kim H, Nagai JS, Ticconi F, Fewings E, Bleckwehl T, Begemann M, Torow N, Kuppe C, Kurth I, Kranz J, Frank D, Anslinger TM, Ziegler P, Kraus T, Enczmann J, Balz V, Windhofer F, Balfanz P, Kurts C, Marx G, Marx N, Dreher M, Schneider RK, Saez-Rodriguez J, Costa I, Hayat S, Kramann R. Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling. Front Immunol. 2022; 13:1066176. PMID: 36591270; PMCID: PMC9800604.
      Citations: 7     Fields:    Translation:HumansCells
    13. Eggermann K, Meyer R, Begemann M, Dey D, B?ltmann E, Kurth I, Korenke GC, Knopp C. Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy. Genes (Basel). 2022 12 14; 13(12). PMID: 36553623; PMCID: PMC9778166.
      Citations:    Fields:    Translation:Humans
    14. Degenhardt F, Ellinghaus D, Juzenas S, Wendorff M, Uellendahl-Werth F, ElAbd H, Arora J, Wacker EM, Wienbrandt L, Palom A, Garcia-Fernandez AE, Blanco-Grau A, Zanella A, Holten AR, Bandera A, Cherubini A, Gerussi A, Ramirez A, Nebel A, Barreira A, Ganna A, Gori A, Lind A, Tanck A, Hinney A, Fracanzani AL, Peschuck A, Cavallero A, Dyrhol-Riise AM, Ruello A, Muscatello A, Pesenti A, Rando-Segura A, Schmidt A, Bellinghausen C, Scollo C, Gassner C, Paccapelo C, Lehmann C, Angelini C, COVICAT study group, Aachen Study (COVAS), Bianco C, Cea C, Sancho C, Hoff DAL, Galimberti D, Prati D, Haschka D, Toapanta D, Sandoval E, Binatti E, Scarpini E, Urrechaga E, Pontali E, Reverter E, Arana-Arri E, Ceriotti F, Malvestiti F, Medrano FJ, Hanses F, Hemmrich-Stanisak G, Bellani G, Grasselli G, Pezzoli G, Costantino G, Albano G, Bellelli G, Citerio G, Foti G, Lamorte G, Baselli G, Kurihara H, Neb H, Kurth I, Pink I, Holter JC, Rybniker J, Dopazo J, Bergan J, Barretina J, Goikoetxea J, Fazaal J, Risnes K, Banasik K, Tonby K, Sumoy L, Terranova L, Knopp L, Gustad LT, Garbarino L, Santoro L, Ostadreza M, Intxausti M, Berger MM, Schaefer M, Niemi MEK, Carrabba M, Figuera Basso ME, Valsecchi MG, Vehreschild MJGT, Manunta M, Acosta-Herrera M, Baldini M, Grimsrud MM, Cornberg M, Castoldi M, Cordioli M, D'Amato M, Augustin M, Tomasi M, Seilmaier MJ, Joannidis M, Wittig M, Mazzocco M, Ciccarelli M, Bocciolone M, Miozzo M, Chueca N, Montano N, Braun N, Marx N, Norwegian SARS-CoV-2 Study group, Witzke O, Palmieri O, Pa Study Group, Faverio P, Preatoni P, Bonfanti P, Omodei P, Castro P, Hoffmann P, Rosenstiel P, Schommers P, Ferrer R, Gualtierotti R, Carpani R, Ciesek S, May S, Marsal S, Pigazzini S, Klein S, Pelusi S, Wilfling S, Bosari S, Volland S, Raychaudhuri S, Schreiber S, Heilmann-Heimbach S, Dudman S, Wesse T, Zheng T, STORM Study group, The Humanitas Task Force, The Humanitas Gavazzeni Task Force, Eggermann T, Illig T, Brenner T, Pumarola T, Feldt T, Folseraas T, Monzani V, Keitel V, Kopfnagel V, Andrade V, Albrecht W, Peter W, Yi X, Khodamoradi Y, Latiano A, Bacher P, Tran F, Ludwig KU, Invernizzi P, Hov JR, Valenti L, Karlsen TH, Franke A, Lenning OB, Myhre R, Vadla MS, Garrido Chercoles A, Mantovani A, Protti A, Aghemo A, Lleo A, Biondi A, Caballero-Garralda A, Carreras Nolla A, Voza A, Cortes B, Nafria-Jimenez B, Schaefer B, Maj C, Herr C, Spinner CD, Hu C, Cappadona C, Azzolini E, Paraboschi EM, Contro E, Martinelli-Boneschi F, Peyvandi F, Blasi F, Cardamone G, My I, de Rojas I, Afset JE, Schneider J, Gaede KI, Heggelund L, Bettini LR, Nkambule L, Cazzaniga M, Cecconi M, Dreher M, Imaz Ayo N, Blay N, Ludwig N, Cornely OA, Tentorio P, Bals R, Badalamenti S, Bombace S, Aliberti S, Gonzalez Cejudo T, Rimoldi V, Farre X, Goerg S, Koehler P, Zoller H, Duga S, Asselta R, de Cid R, Lerga-Jaso J, Maya-Miles D, R?hlemann MC, ?zer O, Blandino Ortiz A, de Salazar A, Ruiz A, Mayer A, Braun A, Teles A, Kildal AB, Gl?ck A, Juli? A, Solier A, Mateos B, Jensen B, Ferrando C, de la Horra C, Quereda C, Skurk C, Thibeault C, Lange C, Azuure C, Jim?nez D, Pesta?a D, Mu?iz-Diaz E, Helbig ET, Casalone E, Calder?n EJ, Navas E, Sollig?rd E, Aziz F, Garcia F, Garc?a S?nchez F, Kurth F, Mesonero F, Rodriguez-Frias F, M?ller F, Matullo G, Hern?ndez I, Galv?n-Femenia I, Heyckendorf J, K?ssens J, Dam?s JK, Altm?ller J, Ampuero J, Mart?n J, Erdmann J, Banales JM, Badia JR, Walter J, Hern?ndez Quero J, Delgado J, Guerrero JM, Kraft J, Schr?der J, M?ller KE, Garcia-Etxebarria K, Izquierdo-Sanchez L, Sander LE, Lippert LJ, T?llez L, Roade L, Kogevinas M, Riveiro-Barciela M, Guti?rrez-Stampa MA, Hernandez-Tejero M, D'Angi? M, N?then MM, Marqui? M, Boada M, Rodr?guez-Gand?a M, Mart?nez N, et al. Detailed stratified GWAS analysis for severe COVID-19 in four European populations. Hum Mol Genet. 2022 11 28; 31(23):3945-3966. PMID: 35848942; PMCID: PMC9703941.
      Citations: 28     Fields:    Translation:HumansCells
    15. Xu Y, Kuppe C, Perales-Pat?n J, Hayat S, Kranz J, Abdallah AT, Nagai J, Li Z, Peisker F, Saritas T, Halder M, Menzel S, Hoeft K, Kenter A, Kim H, van Roeyen CRC, Lehrke M, Moellmann J, Speer T, Buhl EM, Hoogenboezem R, Boor P, Jansen J, Knopp C, Kurth I, Smeets B, Bindels E, Reinders MEJ, Baan C, Gribnau J, Hoorn EJ, Steffens J, Huber TB, Costa I, Floege J, Schneider RK, Saez-Rodriguez J, Freedman BS, Kramann R. Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease. Nat Genet. 2022 11; 54(11):1690-1701. PMID: 36303074; PMCID: PMC7613830.
      Citations: 8     Fields:    Translation:Humans
    16. van der Kaay DCM, Rochtus A, Binder G, Kurth I, Prawitt D, Netchine I, Johannsson G, Hokken-Koelega ACS, Elbracht M, Eggermann T. Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives. Endocr Connect. 2022 Nov 01; 11(11). PMID: 36064195; PMCID: PMC9578069.
      Citations: 2     
    17. Viertauer S, Kurth I, Eggermann K, Eggers C. Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39. J Neurol. 2022 Dec; 269(12):6476-6482. PMID: 35947152; PMCID: PMC9618546.
      Citations:    Fields:    Translation:Humans
    18. Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denomm?-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model. Am J Hum Genet. 2022 08 04; 109(8):1436-1457. PMID: 35907405; PMCID: PMC9388395.
      Citations: 6     Fields:    Translation:HumansAnimals
    19. Lischka A, Lassuthova P, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I, ?akar A, H?bner CA. Genetic pain loss disorders. Nat Rev Dis Primers. 2022 06 16; 8(1):41. PMID: 35710757.
      Citations: 10     Fields:    Translation:Humans
    20. Hilmarsen HT, Sunder-Plassmann R, Braathen GJ, Beetz C, Hacker S, Kurth I, Reiter SBCF, Strand L, Windhager R, Witsch-Baumgartner M, Auer-Grumbach M, H?yer H, Andersen PM, Holla ?L, L?scher WN, Rudnik-Sch?neborn S, Senderek J. A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon. J Med Genet. 2022 10; 59(10):1024-1026. PMID: 35318247; PMCID: PMC9554250.
      Citations:    Fields:    Translation:Humans
    21. Kirschner M, Heinen IR, Koschmieder S, Manco L, Eggermann T, Kurth I, Jost E, Fuchs R, Bento C, Br?mmendorf TH. Novel homozygous nonsense mutation in the P5'N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling. Clin Case Rep. 2022 Mar; 10(3):e05501. PMID: 35280089; PMCID: PMC8895901.
      Citations:    
    22. Martin D, Schreckenbach T, Ziegler P, Filmann N, Schimek-Jasch T, Grosu AL, Dapper H, Combs S, Hoffmann C, Stuschke M, Walter F, Belka C, Kurth I, Hadiwikarta WW, Baumann M, Fokas E, Kalinauskaite G, Tinhofer I, Budach V, Gani C, Zips D, Sch?fer H, Thomas E, Krause M, R?del C. Evaluation of prognostic factors after primary chemoradiotherapy of anal cancer: A multicenter study of the German Cancer Consortium-Radiation Oncology Group (DKTK-ROG). Radiother Oncol. 2022 02; 167:233-238. PMID: 34999135.
      Citations: 2     Fields:    Translation:Humans
    23. Suthar R, Sharawat IK, Eggermann K, Padmanabha H, Saini AG, Bharti B, Kurth I, Singhi P, Sankhyan N. Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children. Neurol India. 2022 Jan-Feb; 70(1):231-237. PMID: 35263888.
      Citations: 2     Fields:    Translation:Humans
    24. Le Cann K, Meents JE, Sudha Bhagavath Eswaran V, Dohrn MF, Bott R, Maier A, Bialer M, Hautvast P, Erickson A, Rolke R, Rothermel M, Kurth I, Lampert A, K?rner J. Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect. Channels (Austin). 2021 12; 15(1):208-228. PMID: 33487118; PMCID: PMC7833769.
      Citations: 1     Fields:    Translation:HumansCells
    25. Elbracht M, Meyer R, Kricheldorf K, Gezer D, Kurth I, Teichmann LL, Isfort S, Koschmieder S, Betz B, Br?mmendorf TH, Germing U, Thomas E. Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms. Blood Adv. 2021 09 14; 5(17):3373-3376. PMID: 34477817; PMCID: PMC8525218.
      Citations: 1     Fields:    Translation:HumansCells
    26. Haag N, Tan EC, Begemann M, Buschmann L, Kraft F, Holschbach P, Lai AHM, Brett M, Mochida GH, DiTroia S, Pais L, Neil JE, Al-Saffar M, Bastaki L, Walsh CA, Kurth I, Knopp C. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Eur J Hum Genet. 2021 11; 29(11):1663-1668. PMID: 34413497; PMCID: PMC8560748.
      Citations: 5     Fields:    Translation:Humans
    27. Venger K, Elbracht M, Carlens J, Deutz P, Zeppernick F, Lassay L, Kratz C, Zenker M, Kim J, Stewart DR, Wieland I, Schultz KAP, Schwerk N, Kurth I, Kontny U. Unusual phenotypes in patients with a pathogenic germline variant in DICER1. Fam Cancer. 2023 Oct; 22(4):475-480. PMID: 34331184; PMCID: PMC9743360.
      Citations: 4     Fields:    Translation:HumansCells
    28. Alkaissi H, Al-Sibahee E, Baher H, Eggermann K, Al-Abayechi A, Kurth I. Recurrent abdominal pain in hereditary sensory autonomic neuropathy type II (HSAN-II). Rev Neurol (Paris). 2021 Dec; 177(10):1307-1309. PMID: 34229871.
      Citations:    Fields:    Translation:Humans
    29. Holtgrewe M, Hertzberg J, Bigoni S, de Silva DC, Gerkes E, Girisha KM, Jamsheer A, Krawitz P, Kurth I, Megarbane A, Teller C, Tuysuz B, Wilson M, Woitschach R, Vater I, Caliebe A, Spielmann M, Elsner J, Mensah MA, Busche A, Coutelier M, El?ioglu N, Filges I, Graul-Neumann L, Markus S, Reis A, Reuter MS, Svoboda D, T?rkmen S, H?lsemann W, Horn D, Mundlos S. Genome sequencing in families with congenital limb malformations. Hum Genet. 2021 Aug; 140(8):1229-1239. PMID: 34159400; PMCID: PMC8263393.
      Citations: 7     Fields:    Translation:HumansCells
    30. Lausberg E, Dewulf JP, Wiame E, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Stollbrink-Peschgens C, Choukair D, Oommen PT, Borkhardt A, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F, Gie?elmann S, Holz A, Demuth S, Haase C, Debray FG, Libioulle C, Surowy H, Wieczorek D, H?usler M. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. J Clin Invest. 2021 06 15; 131(12). PMID: 33945503; PMCID: PMC8203463.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    31. Schultze H, Shastry KL, Manamohan S, Mukherjee S, Garg V, Sarveswara R, Pickkers P, Ktena S, Tran F, Herr C, Petersheim D, Behrends U, Schommers P, Lehmann C, Augustin M, Rybniker J, Mishra N, Bernardes JP, Siever C, Desai M, Monnet B, Saridaki M, Siegel CM, Schreiber S, Kim-Hellmuth S, COVID-19 Aachen Study (COVAS), Nattermann J, Skowasch D, Kurth I, Bals R, Rosenstiel P, Netea MG, Theis F, Deutsche COVID-19 Omics Initiative (DeCOI), Giamarellos-Bourboulis EJ, Kox M, Cheran S, Woodacre MS, Goh EL, Warnat-Herresthal S, H?ndler K, Aziz NA, Bitzer M, Ossowski S, Casadei N, Kern F, Fehlmann T, Altm?ller J, Kr?mer B, Bonaguro L, Schulte-Schrepping J, De Domenico E, Kraut M, Drews A, Nuesch-Germano M, Theis H, Heyckendorf J, Keller A, N?rnberg P, Rie? O, Mukherjee S, Backes M, Aschenbrenner AC, Ulas T, Breteler MMB, Becker M, Schultze JL. Swarm Learning for decentralized and confidential clinical machine learning. Nature. 2021 06; 594(7862):265-270. PMID: 34040261; PMCID: PMC8189907.
      Citations: 107     Fields:    Translation:HumansCellsPHPublic Health
    32. Le Cann K, Foerster A, Erickson A, Hautvast P, Giesselmann S, Pensold D, Kurth I, Mattis VB, Zimmer-Bensch G, Denecke B, Clarner T, Meents J, Lampert A, R?sseler C, Rothermel M, von H?rsten S. The difficulty to model Huntington's disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells. Sci Rep. 2021 03 25; 11(1):6934. PMID: 33767215; PMCID: PMC7994641.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    33. Eggermann K, Namer B, Malik RA, Kurth I, Egenolf N, Zu Altenschildesche CM, Kre? L, Gross F, Klitsch A, Malzacher T, Kampik D, Sommer C, ??eyler N. Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study. Ther Adv Neurol Disord. 2021; 14:17562864211004318. PMID: 34335876; PMCID: PMC8283814.
      Citations: 17     
    34. Vollbach K, Trepels-Kottek S, Elbracht M, Kurth I, Wagner N, Orlikowsky T, Braunschweig T, Tenbrock K. Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2? Eur J Med Genet. 2021 Jun; 64(6):104209. PMID: 33766794.
      Citations: 1     Fields:    Translation:Humans
    35. Wirtz TH, Reuken PA, Jansen C, Fischer P, Bergmann I, Backhaus C, Emontzpohl C, Brandt EF, Koenen MT, Schneider KM, Schierwagen R, Brol MJ, Chang J, Zimmermann HW, Eggermann T, Kurth I, Stoppe C, Bucala R, Praktiknjo M, Stallmach A, Trautwein C, Trebicka J, Bruns T, Berres ML, Rei?ing J, K?se-Vogel N, Bernhagen J. Balance between macrophage migration inhibitory factor and sCD74 predicts outcome in patients with acute decompensation of cirrhosis. JHEP Rep. 2021 Apr; 3(2):100221. PMID: 33659891; PMCID: PMC7890204.
      Citations: 6     
    36. Senderek J, Lassuthova P, Kabzinska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Ludolph A, Marques W, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Schirmacher A, Schlotter-Weigel B, Schoels L, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Toegel S, Seeman P, Kochanski A, Auer-Grumbach M, Dr?ger B, H?yer H, Wolfgang N L, Rudnik-Sch?neborn S, Sch?le R, Z?chner S. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. Neurology. 2020 12 15; 95(24):e3163-e3179. PMID: 33144514; PMCID: PMC7836667.
      Citations: 7     Fields:    Translation:Humans
    37. Eggermann T, Knopp C, Kratz C, Tasic V, Kurth I, Elbracht M, Eggermann K, Begemann M, Br?ck J, Fekete G. Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important. J Mol Med (Berl). 2020 10; 98(10):1447-1455. PMID: 32839827; PMCID: PMC7524824.
      Citations: 9     Fields:    Translation:Humans
    38. Ebbinghaus M, Tuchscherr L, Segond von Banchet G, Liebmann L, Gajda M, Kurth I, Schaible HG, Adams V, H?bner CA. Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice. PLoS One. 2020; 15(8):e0237101. PMID: 32817686; PMCID: PMC7440628.
      Citations: 4     Fields:    Translation:Animals
    39. Meyer R, Begemann M, Demuth S, Kraft F, Dey D, Busse S, Zerres K, Kurth I, Eggermann T, Elbracht M, Sch?ler H, H?usler M. Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies. Clin Genet. 2020 10; 98(4):408-412. PMID: 32720325.
      Citations: 8     Fields:    Translation:Humans
    40. Schneeberger PE, Alawi M, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Maier EM, Javaher-Haghighi P, Bedeschi MF, Iascone M, Peeters H, Ballon K, Jaeken J, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Undiagnosed Diseases Network, Gelb BD, Kurth I, Hempel M, Kutsche K, Kort?m F, Korenke GC, Santer R, Siekmeyer M, Biskup S, Heller C, Ajmone PF, Rodr?guez Alonso A, Palomares-Bralo M, Santos-Simarro F. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain. 2020 08 01; 143(8):2437-2453. PMID: 32761064; PMCID: PMC7447524.
      Citations: 13     Fields:    Translation:HumansCells
    41. Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Luna EJ, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C, G?tzl R, Lochm?ller H. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain. 2020 08 01; 143(8):2406-2420. PMID: 32779703; PMCID: PMC7447519.
      Citations: 11     Fields:    Translation:HumansCells
    42. Kraft F, Kurth I. Long-read sequencing to understand genome biology and cell function. Int J Biochem Cell Biol. 2020 09; 126:105799. PMID: 32629027.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    43. Mair D, Abicht A, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J, Biskup S, Kress W, Br?ck W, Zechel S. Differential diagnosis of vacuolar myopathies in the NGS era. Brain Pathol. 2020 09; 30(5):877-896. PMID: 32419263; PMCID: PMC8017999.
      Citations: 10     Fields:    Translation:Humans
    44. Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Mastorakos G, Johannsson G, Musholt TJ, Prawitt D, Pereira AM, European Reference Network on Rare Endocrine Conditions (ENDO-ERN, Netchine I, Zenker M, Hiort O. Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN). Orphanet J Rare Dis. 2020 06 08; 15(1):144. PMID: 32513286; PMCID: PMC7278165.
      Citations: 8     Fields:    Translation:Humans
    45. Begemann M, Lidov HG, Kurth I, Darras BT, Elbracht M, H?usler MG. A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. Eur J Med Genet. 2020 Apr; 63(4):103826. PMID: 31857255.
      Citations: 6     Fields:    Translation:HumansCells
    46. Quade A, Kurth I, Elbracht M, Eggermann K, Thiel A, Holtgrewe M, Beule D, Scholl UI, H?usler M. Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition. Eur J Paediatr Neurol. 2020 Mar; 25:181-186. PMID: 31810576.
      Citations: 8     Fields:    Translation:Humans
    47. Much CD, Schwefel K, Skowronek D, Shoubash L, von Podewils F, Elbracht M, Spiegler S, Kurth I, Schroeder HWS, Felbor U, Rath M, Fl?el A. Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations. Front Neurol. 2019; 10:1219. PMID: 31824402; PMCID: PMC6879547.
      Citations: 4     
    48. Kraft F, van Rootselaar AF, Giesselmann S, Tschernoster N, Altmueller J, Delpu Y, Avarello MDM, Vijfhuizen LS, Kroes T, Reif PS, Rosenow F, Kurth I, Rafehi H, FAME consortium, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Florian RT, Leit?o E, Kaya S, Klebe S, Magnin E, Buratti J, K?hnel T, Schr?der C, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Rudolf G, Hirsch E, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Steenpass L, Horsthemke B, LeGuern E, Depienne C. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nat Commun. 2019 10 29; 10(1):4919. PMID: 31664039; PMCID: PMC6820781.
      Citations: 61     Fields:    Translation:HumansCells
    49. Begemann M, Waszak SM, Robinson GW, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, Rutkowski S, Eggermann T, Gajjar A, Northcott P, Elbracht M, Pfister SM, Kontny U, Kurth I, J?ger N, Varlet P. Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma. J Clin Oncol. 2020 01 01; 38(1):43-50. PMID: 31609649; PMCID: PMC6943973.
      Citations: 31     Fields:    Translation:HumansCells
    50. Huang J, Estacion M, Zhao P, Dib-Hajj FB, Schulman B, Abicht A, Kurth I, Waxman SG, Dib-Hajj SD, Brockmann K. A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain. Front Neurosci. 2019; 13:918. PMID: 31551682; PMCID: PMC6733892.
      Citations: 11     
    51. Wirtz TH, Fischer P, Backhaus C, Bergmann I, Brandt EF, Heinrichs D, Koenen MT, Schneider KM, Eggermann T, Kurth I, Stoppe C, Bruns T, Fischer J, Berg T, Trautwein C, Berres ML, Bernhagen J. Genetic Variants in the Promoter Region of the Macrophage Migration Inhibitory Factor are Associated with the Severity of Hepatitis C Virus-Induced Liver Fibrosis. Int J Mol Sci. 2019 Jul 31; 20(15). PMID: 31370326; PMCID: PMC6696142.
      Citations: 5     Fields:    Translation:HumansCells
    52. Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M. Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia. Bone. 2019 10; 127:446-451. PMID: 31325655.
      Citations: 3     Fields:    Translation:Humans
    53. Gilley J, Angeletti C, Kurth I, Drenth JPH, Thiele H, Orsomando G, Coleman MP, Huppke P, Wegener E, Stadelmann C, Barrantes-Freer A, Br?ck W, N?rnberg P, G?rtner J. Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. Exp Neurol. 2019 10; 320:112958. PMID: 31132363.
      Citations: 25     Fields:    Translation:Humans
    54. Eggermann T, Begemann M, Kurth I, Elbracht M. Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. Eur J Med Genet. 2019 Jul; 62(7):103671. PMID: 31100449.
      Citations: 5     Fields:    Translation:HumansCells
    55. Krols M, Asselbergh B, De Rycke R, De Winter V, Seyer A, Kurth I, Bultynck G, Timmerman V, Janssens S, M?ller FJ. Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution. Hum Mol Genet. 2019 02 15; 28(4):615-627. PMID: 30339187; PMCID: PMC6360276.
      Citations: 16     Fields:    Translation:HumansCells
    56. Kraft F, Wesseler K, Begemann M, Kurth I, Elbracht M, Eggermann T. Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation. Clin Epigenetics. 2019 02 15; 11(1):30. PMID: 30770769; PMCID: PMC6377752.
      Citations: 8     Fields:    Translation:HumansCells
    57. Kraft F, Haag N, Korenke GC, Knopp C, Mull M, Bergmann M, Weis J, Elbracht M, Begemann M, Kurth I, Karsai G, H?nisch B, Othman A, Suriyanarayanan S, Steiner R, Schr?der JM, Hornemann T. DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans. J Clin Invest. 2019 03 01; 129(3):1229-1239. PMID: 30620338; PMCID: PMC6391115.
      Citations: 28     Fields:    Translation:HumansCells
    58. Knopp C, Damen R, Stoppe A, Mull M, Elbracht M, Kurth I, Begemann M, H?usler M, M?ller B. PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa. Parkinsonism Relat Disord. 2019 06; 63:240-242. PMID: 30777652.
      Citations: 3     Fields:    Translation:Humans
    59. Ammer-Herrmenau C, Kulkarni U, Andreas N, Ungelenk M, Ravens S, Kather A, Kurth I, Bauer M, Kamradt T, H?bner C. Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations. PLoS One. 2019; 14(2):e0211716. PMID: 30730978; PMCID: PMC6366777.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    60. Kurth I, Klein T, Klug K, Henkel L, Kwok CK, Edenhofer F, Klopocki E, ??eyler N. Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy. Stem Cell Res. 2019 03; 35:101396. PMID: 30731422.
      Citations: 3     Fields:    Translation:HumansCells
    61. Kurth I, Behrendt L, Kaether C. A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways. Cell Mol Life Sci. 2019 Apr; 76(7):1433-1445. PMID: 30666337; PMCID: PMC6420906.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    62. Dohrn MF, Lampert A, ??eyler N, Kurth I. [Neuropathic pain syndromes and channelopathies]. Internist (Berl). 2019 Jan; 60(1):90-97. PMID: 30564884.
      Citations: 1     Fields:    Translation:HumansCells
    63. Kleggetveit IP, Kaluza L, Meents J, Gerlach A, Lin Z, Winterpacht A, Dragicevic E, Kurth I, Jorum E, Lampert A, Namer B, Schmidt D, Eberhardt E, Maroni M, Dorfmeister E, Kohl Z, Sch?ttler J, Warncke T, Winner B. Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors. EBioMedicine. 2019 Jan; 39:401-408. PMID: 30503201; PMCID: PMC6354557.
      Citations: 43     Fields:    Translation:HumansCells
    64. Fortugno P, Cestra G, Cordisco S, Castiglia D, De Angelis B, Kurth I, Brancati F, Angelucci F, Camerota L, Ferraro AS, Uccioli L, Kornak U. Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI. Hum Mutat. 2019 01; 40(1):106-114. PMID: 30371979.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    65. Elbracht M, Kraft F, Begemann M, Holschbach P, Mull M, Kurth I, Hehr U, Kabat IM, M?ller B, H?usler M. Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. Mol Genet Genomic Med. 2018 11; 6(6):1255-1260. PMID: 30393983; PMCID: PMC6305664.
      Citations: 4     Fields:    Translation:Humans
    66. Olschok K, Vester U, Lahme S, Kurth I, Eggermann T. No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria. BMC Nephrol. 2018 10 20; 19(1):278. PMID: 30342472; PMCID: PMC6196009.
      Citations: 6     Fields:    Translation:Humans
    67. Soellner L, Kraft F, Sauer S, Begemann M, Kurth I, Elbracht M, Eggermann T. Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers. Eur J Hum Genet. 2019 01; 27(1):42-48. PMID: 30218098; PMCID: PMC6303262.
      Citations: 7     Fields:    Translation:HumansCells
    68. Quade A, Weis J, Kurth I, Rolke R, Bienert M, Schrading S, Rohrmann D, Y?ksel Z, H?usler M. Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation. Neuromuscul Disord. 2018 12; 28(12):1006-1011. PMID: 30389422.
      Citations: 1     Fields:    Translation:Humans
    69. Suresh B, Reddy V, Jagadeesh S, Kurth I. A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV). Neuroophthalmology. 2019 Nov; 43(5):310-312. PMID: 31741675; PMCID: PMC6844510.
      Citations:    
    70. Eggermann T, Begemann M, Elbracht M, Kurth I, Ledig S, Wieacker P. Search for altered imprinting marks in Mayer-Rokitansky-K?ster-Hauser patients. Mol Genet Genomic Med. 2018 11; 6(6):1225-1228. PMID: 30099855; PMCID: PMC6305658.
      Citations: 4     Fields:    Translation:HumansCells
    71. Elbracht M, Meyer R, Eggermann T, Kurth I. [Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics]. Internist (Berl). 2018 08; 59(8):756-765. PMID: 29946883.
      Citations: 1     Fields:    Translation:Humans
    72. Girdauskas E, Petersen J, Neumann N, Ungelenk M, Kurth I, Reichenspurner H, Zeller T. MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy. PLoS One. 2018; 13(7):e0200205. PMID: 30059548; PMCID: PMC6066209.
      Citations: 7     Fields:    Translation:Humans
    73. Krols M, Detry S, Asselbergh B, Almeida-Souza L, Kremer A, Lippens S, De Rycke R, De Winter V, Kurth I, McMahon HT, Savvides SN, Timmerman V, Janssens S, M?ller FJ. Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering. Cell Rep. 2018 05 15; 23(7):2026-2038. PMID: 29768202.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    74. Kirschner M, Maurer A, Wlodarski MW, Ventura Ferreira MS, Bouillon AS, Halfmeyer I, Blau W, Kreuter M, Rosewich M, Corbacioglu S, Beck J, Radsak MP, Wilk CM, Koschmieder S, Begemann M, Kurth I, Schemionek M, Beier F, Schwarz M, Bittenbring J, Br?mmendorf TH. Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita. Leukemia. 2018 08; 32(8):1762-1767. PMID: 29749397.
      Citations: 13     Fields:    Translation:HumansCells
    75. Eggermann K, Gess B, Weis J, Hahn A, Kurth I, H?usler M. Hereditary Neuropathies. Dtsch Arztebl Int. 2018 02 09; 115(6):91-97. PMID: 29478438; PMCID: PMC5832893.
      Citations: 31     Fields:    Translation:Humans
    76. Geuer S, Socha M, Allou L, Sowinska-Seidler A, Jamsheer A, Wittler L, de Silva D, Kurth I, Maya I, Mountford R, Fryer A, Borck G, Wilson M, Duboule D, Mundlos S, Spielmann M, Fl?ttmann R, Kragesteen BK, Bosquillon de Jarcy L, Wagner J, Oehl-Jaschkowitz B, Santos-Simarro F, H?lsemann W, Klopocki E, Horn D, Lapunzina P, Mascrez B. Noncoding copy-number variations are associated with congenital limb malformation. Genet Med. 2018 06; 20(6):599-607. PMID: 29236091.
      Citations: 21     Fields:    Translation:HumansAnimals
    77. Eggermann T, Dicks S, Kanber D, Albrecht B, Begemann M, Kurth I, Beygo J, Buiting K, Oehl-Jaschkowitz B, Thomas W. The maternal uniparental disomy of chromosome 6?(upd(6)mat) "phenotype": result of placental trisomy?6?mosaicism? Mol Genet Genomic Med. 2017 11; 5(6):668-677. PMID: 29178649; PMCID: PMC5702562.
      Citations: 11     Fields:    Translation:HumansCells
    78. Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D. Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. Am J Med Genet B Neuropsychiatr Genet. 2017 Oct; 174(7):732-739. PMID: 28766925.
      Citations: 8     Fields:    Translation:Humans
    79. Girdauskas E, Geist L, Disha K, Kazakbaev I, Schulz S, Ungelenk M, Kuntze T, Reichenspurner H, Kurth I, Gro? T. Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results. Eur J Cardiothorac Surg. 2017 Jul 01; 52(1):156-162. PMID: 28387797.
      Citations: 15     Fields:    Translation:Humans
    80. Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C. Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case. Pediatr Nephrol. 2017 10; 32(10):1989-1992. PMID: 28620746.
      Citations: 3     Fields:    Translation:HumansCells
    81. Quade A, Wiesmann M, Weis J, Kurth I, Jalaie H, Rohrbach M, H?usler M. Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis? Pediatr Neurol. 2017 Sep; 74:92-96. PMID: 28739362.
      Citations:    Fields:    Translation:HumansCells
    82. Busch A, Jankofsky M, Ganschow R, Kurth I, Reutter H, ?arkovic M, Lowe C, Buers I, Rutsch F, H?bner CA. Mutations in CRLF1 cause familial achalasia. Clin Genet. 2017 Jul; 92(1):104-108. PMID: 27976805.
      Citations: 4     Fields:    Translation:Humans
    83. King MK, Leipold E, Goehringer JM, Kurth I, Challman TD. Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot. Neurogenetics. 2017 07; 18(3):179-181. PMID: 28289907.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    84. Hess J, Kurth I, Henkel A, Panic L, R?bben H, Rossi Neto R, Hess-Busch Y. [Social support in gender reassignment surgery]. Urologe A. 2017 Feb; 56(2):186-193. PMID: 27830287.
      Citations:    Fields:    Translation:HumansCTClinical Trials
    85. Saini AG, Padmanabh H, Sahu JK, Kurth I, Voigt M, Singhi P. Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene. Indian J Pediatr. 2017 04; 84(4):332-333. PMID: 28050684.
      Citations: 5     Fields:    Translation:Humans
    86. Schulz A, Wagner F, Ungelenk M, Kurth I, Redecker C. Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report. Transl Neurodegener. 2016; 5:23. PMID: 28035283; PMCID: PMC5187649.
      Citations: 1     Fields:    
    87. Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, H?usler M. Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency. Neuropediatrics. 2017 Apr; 48(2):111-114. PMID: 28024309.
      Citations: 17     Fields:    Translation:Humans
    88. Chiabrando D, Castori M, di Rocco M, Ungelenk M, Madeo A, Grammatico P, Bartsch S, Altruda F, Silengo L, Tolosano E, Kurth I, Gie?elmann S, Di Capua M, H?bner CA. Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. PLoS Genet. 2016 Dec; 12(12):e1006461. PMID: 27923065; PMCID: PMC5140052.
      Citations: 22     Fields:    Translation:HumansCells
    89. Coci EG, Codutti L, Fink C, Bartsch S, Kurth I, Riedel J, Gr?ning G, L?cke T. Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy. Mol Cell Probes. 2017 04; 32:18-23. PMID: 27856333.
      Citations: 3     Fields:    Translation:HumansCells
    90. Franke M, Ibrahim DM, Andrey G, Schwarzer W, Kraft K, Kempfer R, Jerkovic I, Spielmann M, Timmermann B, Wittler L, Kurth I, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Mundlos S, Heinrich V, Sch?pflin R, Chan WL, Cambiaso P. Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature. 2016 Oct 13; 538(7624):265-269. PMID: 27706140.
      Citations: 283     Fields:    Translation:AnimalsCells
    91. van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Vrabec K, Ravnik-Glavac M, Zidar J, Leonardis L, de Carvalho M, Pinto S, Mora JS, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Parman Y, Landwehrmeyer B, Saker-Delye S, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Amouyel P, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, Bertolin C, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ, PARALS Registry, SLALOM Group, SLAP Registry, FALS Sequencing Consortium, SLAGEN Consortium, NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH, V?sa U, Rogelj B, Koritnik B, Gro?elj LD, Millecamps S, Salachas F, Meininger V, Rojas-Garc?a R, Abdulla S, Drepper C, Sendtner M, Meyer T, Basak AN, Tunca C, Hamzeiy H, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Brice A, Payan CA, D?rr A, N?then MM, Tzourio C, Dartigues JF, D'Alfonso S, Sorar? G, Mazzini L, H?bner CA, Corcia P, Vourc'h P. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet. 2016 09; 48(9):1043-8. PMID: 27455348; PMCID: PMC5556360.
      Citations: 258     Fields:    Translation:Humans
    92. Hentschel J, Kurth I, Schimmel B, Heinrich-Weltzien R, Bertzbach S, Beetz C, Tatun D, Parkhomchuk D, Peters H. Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool. Gene. 2016 Sep 15; 590(1):1-4. PMID: 27259663.
      Citations: 5     Fields:    Translation:HumansCells
    93. Kurth I, Baumgartner M, Tomni C, Windhager R, Gremel K, Auer-Grumbach M, Schabh?ttl M, Strom TM, Wieland T. Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy. Am J Med Genet B Neuropsychiatr Genet. 2016 09; 171(6):875-8. PMID: 27184211.
      Citations: 5     Fields:    Translation:Humans
    94. Leipold E, Hanson-Kahn A, Frick M, Gong P, Bernstein JA, Voigt M, Katona I, Oliver Goral R, Weis J, Heinemann SH, Kurth I, Altm?ller J, N?rnberg P, H?bner CA. Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant. Nat Commun. 2015 Dec 08; 6:10049. PMID: 26645915; PMCID: PMC4686659.
      Citations: 37     Fields:    Translation:HumansAnimals
    95. Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I. The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. Eur J Hum Genet. 2015 Oct; 23(10):1434. PMID: 26376683; PMCID: PMC4592096.
      Citations: 12     Fields:    
    96. Varga RE, Khundadze M, Damme M, Nietzsche S, Hoffmann B, Koch N, Hennings JC, Franzka P, Huebner AK, Kessels MM, Biskup C, Qualmann B, Braulke T, Kurth I, Beetz C, Stauber T, Jentsch TJ, H?bner CA. In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11. PLoS Genet. 2015 Aug; 11(8):e1005454. PMID: 26284655; PMCID: PMC4540459.
      Citations: 63     Fields:    Translation:AnimalsCells
    97. Kurth I. [Sensory and autonomic neuropathies and pain-related channelopathies]. Schmerz. 2015 Aug; 29(4):445-57. PMID: 26219509.
      Citations: 2     Fields:    Translation:HumansCells
    98. Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J, Schabh?ttl M, Carvalho OP. Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015 Aug; 47(8):962. PMID: 26220135.
      Citations:    Fields:    
    99. Khaminets A, Heinrich T, Mari M, Grumati P, Huebner AK, Liebmann L, Stolz A, Koch N, Mauthe M, Katona I, Qualmann B, Weis J, Reggiori F, Kurth I, Akutsu M, Nietzsche S, H?bner CA, Dikic I. Regulation of endoplasmic reticulum turnover by selective autophagy. Nature. 2015 Jun 18; 522(7556):354-8. PMID: 26040720.
      Citations: 415     Fields:    Translation:HumansAnimalsCells
    100. Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Stucka R, Schmid AB, Parman Y, Watson RM, Hertz JM, Moog U, Valente EM, Dusl M, Stendel C, Stafford F, Reimann F, Willems PJ, Nahorski MS, Shaikh SS, Nicholas AK, Karbani G, McAleer MA, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Michiue T, Bennett DL, Woods CG, Senderek J, Strom TM, Schabh?ttl M, Graul-Neumann L, Heinritz W, Passarge E, Baumgartner M, Pereira D, Restrepo CM, Katona I, Wieland T, von Au K, Finke C, Carvalho OP, Cilio MR, Weis J, Chrast R. Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015 Jul; 47(7):803-8. PMID: 26005867; PMCID: PMC7212047.
      Citations: 67     Fields:    Translation:HumansAnimalsCells
    101. Kurth I, H?bner CA. Membrane-shaping disorders: a common pathway in axon degeneration. Brain. 2014 Dec; 137(Pt 12):3109-21. PMID: 25281866.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    102. Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I. The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. Eur J Hum Genet. 2015 May; 23(5):561-3. PMID: 25118027; PMCID: PMC4402639.
      Citations: 30     Fields:    Translation:Humans
    103. Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, Ludwig CF, Beil FT, Pestka JM, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch TJ, Teti A, Schulz A, Schinke T, Amling M. CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals. J Bone Miner Res. 2014 Apr; 29(4):982-91. PMID: 24108692.
      Citations: 18     Fields:    Translation:Humans
    104. Tsiakas K, Agolini E, Cestra G, Teson M, Castiglia D, Novelli G, Kurth I, Zambruno G, Brancati F, Fortugno P, Josselin E, Santer R, Dallapiccola B, Lopez M. Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. J Invest Dermatol. 2014 Aug; 134(8):2146-2153. PMID: 24577405.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    105. Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Beil FT, Pou-Serradell A, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Gal A, Amling M, Mundlos S, Baets J, Kurth I, Kornak U, Mademan I, Gie?elmann S, V?lchez JJ, H?bner CA. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain. 2014 Mar; 137(Pt 3):683-92. PMID: 24459106.
      Citations: 48     Fields:    Translation:HumansCells
    106. Khundadze M, Kollmann K, Koch N, Biskup C, Nietzsche S, Zimmer G, Hennings JC, Huebner AK, Symmank J, Jahic A, Kessels M, Braulke T, Qualmann B, Kurth I, Beetz C, Ilina EI, Karle K, Sch?ls L, H?bner CA. A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system. PLoS Genet. 2013; 9(12):e1003988. PMID: 24367272; PMCID: PMC3868532.
      Citations: 55     Fields:    Translation:HumansAnimalsCells
    107. Beetz C, Koch N, Khundadze M, Zimmer G, Nietzsche S, Hertel N, Huebner AK, Mumtaz R, Schweizer M, Dirren E, Karle KN, Irintchev A, Alvarez V, Redies C, Westermann M, Kurth I, Deufel T, Kessels MM, Qualmann B, H?bner CA. A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. J Clin Invest. 2013 Oct; 123(10):4273-82. PMID: 24051375; PMCID: PMC3784524.
      Citations: 48     Fields:    Translation:HumansAnimalsCells
    108. Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Hennings JC, Bergmann M, Thiele H, Wetzel A, Timmerman V, De Jonghe P, Blum R, Schaible HG, Weis J, Heinemann SH, Kurth I, St?dberg T, Altm?ller J, N?rnberg P, H?bner CA. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet. 2013 Nov; 45(11):1399-404. PMID: 24036948.
      Citations: 123     Fields:    Translation:HumansAnimalsCells
    109. Koehler K, Malik M, Mahmood S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Thiele H, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Gie?elmann S, N?rnberg G, Altm?ller J, N?rnberg P, Br?mswig J, M?hlenberg R, H?bner CA. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet. 2013 Oct 03; 93(4):727-34. PMID: 24035193; PMCID: PMC3791256.
      Citations: 24     Fields:    Translation:HumansCells
    110. Kurth I, Peti-Peterdi J, Houillier P, Purkerson JM, Hentschke M, Zdebik AA, Schwartz GJ, Eladari D, Chambrey R, Leviel F, H?bner CA. Renal intercalated cells are rather energized by a proton than a sodium pump. Proc Natl Acad Sci U S A. 2013 May 07; 110(19):7928-33. PMID: 23610411; PMCID: PMC3651478.
      Citations: 62     Fields:    Translation:AnimalsCells
    111. Hentschel J, Kurth I, Stephan B, Prott EC, Schweiger B, Schuster A, Wieczorek D, Kuechler A, L?decke HJ. A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature. Mol Syndromol. 2012 Nov; 3(5):223-9. PMID: 23293580; PMCID: PMC3531948.
      Citations: 5     
    112. Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72. PMID: 22770980; PMCID: PMC3397276.
      Citations: 43     Fields:    Translation:HumansAnimalsCells
    113. Beetz C, Pieber TR, Hertel N, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M, Schabh?ttl M. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012 Jul 13; 91(1):139-45. PMID: 22703882; PMCID: PMC3397265.
      Citations: 39     Fields:    Translation:HumansCells
    114. Foulds N, Shah H, Joseph B, Vogel H, Bald R, Besoke R, Held K, Mundlos S, Kurth I, Klopocki E, K?hler C, L?ttgen S. Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. Eur J Hum Genet. 2012 Jun; 20(6):705-8. PMID: 22258522; PMCID: PMC3355260.
      Citations: 22     Fields:    Translation:Humans
    115. Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S, Klopocki E, M?kitie O. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet. 2012 Feb; 49(2):119-25. PMID: 22147889.
      Citations: 46     Fields:    Translation:HumansAnimals
    116. Skeik N, Rooke TW, Davis MD, Davis DM, Kalsi H, Kurth I, Richardson RC. Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation. Vasc Med. 2012 Feb; 17(1):44-9. PMID: 22033523.
      Citations: 15     Fields:    Translation:HumansCells
    117. Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E. Unique phenotype in a patient with CHARGE syndrome. Int J Pediatr Endocrinol. 2011 Oct 13; 2011:11. PMID: 21995344; PMCID: PMC3216247.
      Citations: 8     
    118. Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Wagner F, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Gal A, del Castillo I, Kurth I, Altm?ller J, Vi?uela A, N?rnberg G, N?rnberg P, H?bner CA. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. Am J Hum Genet. 2011 May 13; 88(5):621-7. PMID: 21549336; PMCID: PMC3146719.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    119. Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2010 Oct 08; 87(4):465-79. PMID: 20887964; PMCID: PMC2948809.
      Citations: 79     Fields:    Translation:HumansAnimalsCells
    120. Houillier P, Morla L, El Moghrabi S, Hassan H, Hatim H, Parker MD, Kurth I, Kougioumtzes A, Sinning A, Pech V, Riemondy KA, Miller RL, Hummler E, Shull GE, Aronson PS, Doucet A, Wall SM, Eladari D, Leviel F, H?bner CA, Brideau G, Chambrey R. The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice. J Clin Invest. 2010 May; 120(5):1627-35. PMID: 20389022; PMCID: PMC2860930.
      Citations: 154     Fields:    Translation:AnimalsCells
    121. Kurth I, Pamminger T, Hennings JC, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, De Jonghe P, Gal A, Kaether C, Timmerman V, Soehendra D, N?rnberg G, N?rnberg P, H?bner CA. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 2009 Nov; 41(11):1179-81. PMID: 19838196.
      Citations: 105     Fields:    Translation:HumansAnimalsCells
    122. Kurth I, Klopocki E, Stricker S, van Oosterwijk J, Vanek S, Altmann J, Santos HG, van Harssel JJ, de Ravel T, Wilkie AO, Gal A, Mundlos S. Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet. 2009 Aug; 41(8):862-3. PMID: 19639023.
      Citations: 50     Fields:    Translation:HumansAnimalsCells
    123. Hentschke M, Hentschke S, Borgmeyer U, Kurth I, H?bner CA. The murine AE4 promoter predominantly drives type B intercalated cell specific transcription. Histochem Cell Biol. 2009 Oct; 132(4):405-12. PMID: 19544066.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    124. Kurth I, Meiner A, Hoffmann F, Bernard V, Gillessen-Kaesbach G, Edener U, H?bner CA, Z?hlke C. Missense exchanges in the TTBK2 gene mutated in SCA11. J Neurol. 2009 Nov; 256(11):1856-9. PMID: 19533200.
      Citations: 9     Fields:    Translation:Humans
    125. Chrispell JD, Feathers KL, Kane MA, Kim CY, Brooks M, Khanna R, Kurth I, Gal A, Mears AJ, Swaroop A, Napoli JL, Sparrow JR, Thompson DA, H?bner CA. Rdh12 activity and effects on retinoid processing in the murine retina. J Biol Chem. 2009 Aug 07; 284(32):21468-77. PMID: 19506076; PMCID: PMC2755871.
      Citations: 33     Fields:    Translation:AnimalsCells
    126. Kaufmann A, Vogt S, Uhlhaas S, Stienen D, Kurth I, Hameister H, Mangold E, Kaminsky E, Propping P, Friedl W, Aretz S, K?tting J. Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. J Mol Diagn. 2009 Mar; 11(2):131-9. PMID: 19196998; PMCID: PMC2665862.
      Citations: 15     Fields:    Translation:Humans
    127. Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008 Oct; 83(4):511-9. PMID: 18834967; PMCID: PMC2561938.
      Citations: 142     Fields:    Translation:HumansCells
    128. Ruusuvuori E, Haapanen A, Damkier HH, Kurth I, Hentschke M, Schweizer M, Rudhard Y, Laatikainen LM, Praetorius J, Voipio J, Jacobs S, Sipil? ST, Tyynel? J, H?bner CA. Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability. Proc Natl Acad Sci U S A. 2008 Jan 08; 105(1):311-6. PMID: 18165320; PMCID: PMC2224208.
      Citations: 81     Fields:    Translation:AnimalsCells
    129. Thompson DA, Feathers KL, Chrispell JD, Schroth J, McHenry CL, Schweizer M, Skosyrski S, Gal A, Kurth I, R?ther K, H?bner CA. Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function. Mol Cell Biol. 2007 Feb; 27(4):1370-9. PMID: 17130236; PMCID: PMC1800705.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    130. Hentschke M, Kurth I, Borgmeyer U, H?bner CA. Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3. J Biol Chem. 2006 Nov 03; 281(44):33497-504. PMID: 16954206.
      Citations: 18     Fields:    Translation:HumansCells
    131. Noppeney J, Winkler M, Kurth I, Noppeney T. [Acute superficial thrombophlebitis--therapeutic strategies]. Zentralbl Chir. 2006 Feb; 131(1):51-6. PMID: 16485211.
      Citations:    Fields:    Translation:Humans
    132. Hentschke M, Hentschke S, Borgmeyer U, Gal A, Kurth I, H?bner CA. The forkhead transcription factor Foxi1 directly activates the AE4 promoter. Biochem J. 2006 Jan 01; 393(Pt 1):277-83. PMID: 16159312; PMCID: PMC1383686.
      Citations: 23     Fields:    Translation:HumansAnimalsCells
    133. Hentschke M, Wiemann M, Hentschke S, Kurth I, Hermans-Borgmeyer I, Seidenbecher T, Jentsch TJ, Gal A, H?bner CA. Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold. Mol Cell Biol. 2006 Jan; 26(1):182-91. PMID: 16354689; PMCID: PMC1317631.
      Citations: 63     Fields:    Translation:Animals
    134. Noppeney T, Noppeney J, Kurth I. [Results of standard varicose vein surgery]. Zentralbl Chir. 2002 Sep; 127(9):748-51. PMID: 12221553.
      Citations: 2     Fields:    Translation:Humans
    135. Kurth I, Heinrich PC, Pflanz S, Gr?tzinger J, M?ller-Newen G. Two different epitopes of the signal transducer gp130 sequentially cooperate on IL-6-induced receptor activation. J Immunol. 2000 Dec 15; 165(12):7042-9. PMID: 11120832.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    136. Pflanz S, Kurth I, Pitard V, Heinrich PC, Timmermann A, Gr?tzinger J, K?ster A, M?ller-Newen G. Different epitopes are required for gp130 activation by interleukin-6, oncostatin M and leukemia inhibitory factor. FEBS Lett. 2000 Feb 25; 468(2-3):120-4. PMID: 10692570.
      Citations: 7     Fields:    Translation:AnimalsCells
    137. Horsten U, Pflanz S, Timmermann A, Dahmen H, Tacken I, Heinrich PC, Kurth I, K?ster A, M?ller-Newen G. Importance of the membrane-proximal extracellular domains for activation of the signal transducer glycoprotein 130. J Immunol. 2000 Jan 01; 164(1):273-82. PMID: 10605021.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    138. Horsten U, Pflanz S, Dahmen H, Heinrich PC, Kurth I, K?ster A, Gr?tzinger J, M?ller-Newen G. Activation of the signal transducer glycoprotein 130 by both IL-6 and IL-11 requires two distinct binding epitopes. J Immunol. 1999 Feb 01; 162(3):1480-7. PMID: 9973404.
      Citations: 20     Fields:    Translation:HumansAnimalsCells

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