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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1949 1
1951 3
1952 2
1953 5
1954 5
1955 3
1956 5
1957 4
1958 3
1961 2
1962 2
1964 3
1965 2
1966 6
1967 4
1968 3
1969 3
1970 3
1971 3
1973 2
1974 3
1975 1
1976 4
1977 6
1978 8
1979 2
1980 5
1981 4
1982 6
1983 3
1984 5
1985 5
1986 3
1987 4
1988 3
1989 2
1990 1
1991 4
1992 1
1993 3
1994 1
1996 1
1997 3
1998 4
1999 4
2000 5
2001 10
2002 6
2003 7
2004 5
2005 7
2006 12
2007 9
2008 8
2009 10
2010 13
2011 23
2012 28
2013 27
2014 15
2015 21
2016 28
2017 19
2018 21
2019 27
2020 24
2021 23
2022 28
2023 25
2024 25
2025 42
2026 22

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578 results

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Page 1
Monogenic variants in dystonia: an exome-wide sequencing study.
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 MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, 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 DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Bauman… See abstract for full author list ➔ Zech M, et al. Among authors: graf e. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Bhasin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Ch… See abstract for full author list ➔ Schmidt A, et al. Among authors: graf e. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordström U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelman J, de Carvalho M, Thal DR, Otto M, Brännström T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH. Freischmidt A, et al. Among authors: graf e. Nat Neurosci. 2015 May;18(5):631-6. doi: 10.1038/nn.4000. Epub 2015 Mar 24. Nat Neurosci. 2015. PMID: 25803835 Free article.
Infektionsprävention schnittstellenübergreifend.
Schwerdtner NL, Graf E. Schwerdtner NL, et al. Among authors: graf e. Pflege Z. 2021;74(8):24-27. doi: 10.1007/s41906-021-1076-9. Epub 2021 Jul 23. Pflege Z. 2021. PMID: 34305331 Free PMC article. Review. German.
Von Basishygiene bis zu aktiver Netzarbeit.
Schwerdtner NL, Graf E. Schwerdtner NL, et al. Among authors: graf e. Heilberufe. 2022;74(4):30-33. doi: 10.1007/s00058-022-2250-1. Epub 2022 Apr 1. Heilberufe. 2022. PMID: 35382218 Free PMC article. German. No abstract available.
Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing.
Krenn M, Wagner M, Schuller H, Pugna I, Rath J, Zulehner G, Keritam O, Weng R, Koneczny I, Schiavo E, Damato V, Kleinveld VEA, Kiss C, Gold V, Quasthoff S, Masi G, O'Connor KC, Canning J, Waters PJ, Lenz D, Blüthner M, Pavlov M, Graf E, Winkelmann J, Löscher WN, Zimprich F, Cetin H. Krenn M, et al. Among authors: graf e. Neurology. 2025 Oct 21;105(8):e214177. doi: 10.1212/WNL.0000000000214177. Epub 2025 Sep 26. Neurology. 2025. PMID: 41004697
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, Kittke V, Tilch E, Zhao C, Tsoma E, Sorrentino U, Indelicato E, Stehr A, Saparov A, Abela L, Adamovicova M, Afenjar A, Assmann B, Baloghova J, Baumann M, Berutti R, Brezna Z, Brugger M, Brunet T, Cogne B, Colangelo I, Conboy E, Distelmaier F, Eckenweiler M, Garavaglia B, Geerlof A, Graf E, Hackenberg A, Harvanova D, Haslinger B, Havrankova P, Hoffmann GF, Janzarik WG, Keren B, Kolnikova M, Kolokotronis K, Kosutzka Z, Koy A, Krenn M, Krygier M, Kusikova K, Maier O, Meitinger T, Mertes C, Milenkovic I, Monfrini E, Santos Dias Mourao A, Musacchio T, Nizon M, Ostrozovicova M, Pavlov M, Prihodova I, Rektorova I, Romito LM, Rybanska B, Sadr-Nabavi A, Schwenger S, Shoeibi A, Sitzberger A, Smirnov D, Svantnerova J, Tautanova R, Toelle SP, Ulmanova O, Vetrini F, Vill K, Wagner M, Weise D, Zorzi G, Di Fonzo A, Oexle K, Berweck S, Mall V, Boesch S, Schormair B, Prokisch H, Jech R, Winkelmann J. Zech M, et al. Among authors: graf e. Brain. 2025 Aug 1;148(8):2827-2846. doi: 10.1093/brain/awaf059. Brain. 2025. PMID: 39937650 Free PMC article.
Pro-endometriosis macrophage release of IL-33 is key for endometriosis pain and lesion formation.
Fattori V, Rasquel-Oliveira FS, Ochoa S, Graf E, Bazzano MV, Aung T, Vural M, Kohl C, Solano ME, da Silva MDV, Heintz OK, Brierley SM, Verri WA Jr, Haerteis S, Castro J, Lawrenson K, Rogers MS. Fattori V, et al. Among authors: graf e. bioRxiv [Preprint]. 2025 Oct 21:2025.10.20.683510. doi: 10.1101/2025.10.20.683510. bioRxiv. 2025. PMID: 41279884 Free PMC article. Preprint.
578 results