Format
Sort by
Items per page

Send to

Choose Destination

Best matches for Schüle R[au]:

Search results

Items: 1 to 50 of 248

1.

Nitroreductase-mediated release of inhibitors of Lysine-Specific Demethylase 1 (LSD1) from prodrugs in transfected acute myeloid leukaemia cells.

Jung M, Herrlinger EM, Hau M, Redhaber DM, Greve G, Willmann D, Steimle S, Müller M, Lübbert M, Miething CC, Schüle R.

Chembiochem. 2020 Mar 30. doi: 10.1002/cbic.202000138. [Epub ahead of print]

PMID:
32227662
2.

ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy.

Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Bianchi Marzoli S, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F.

Ann Neurol. 2020 Mar 26. doi: 10.1002/ana.25723. [Epub ahead of print]

PMID:
32219868
3.

Depletion of histone methyltransferase KMT9 inhibits lung cancer cell proliferation by inducing non-apoptotic cell death.

Baumert HM, Metzger E, Fahrner M, George J, Thomas RK, Schilling O, Schüle R.

Cancer Cell Int. 2020 Feb 17;20:52. doi: 10.1186/s12935-020-1141-2. eCollection 2020.

4.

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.

Tüngler V, Doebler-Neumann M, Salandin M, Kaufmann P, Wolf C, Lucas N, Harmuth F, Reichbauer J, Krägeloh-Mann I, Schüle R, Lee-Kirsch MA.

Neurol Genet. 2019 Dec 19;6(1):e384. doi: 10.1212/NXG.0000000000000384. eCollection 2020 Feb. No abstract available.

5.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B.

Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7.

6.

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Khleifat AA, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM.

Nat Neurosci. 2020 Feb;23(2):295. doi: 10.1038/s41593-019-0570-5.

PMID:
31857710
7.

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM.

Nat Neurosci. 2019 Dec;22(12):1966-1974. doi: 10.1038/s41593-019-0530-0. Epub 2019 Nov 25. Erratum in: Nat Neurosci. 2019 Dec 19;:.

8.

Next-generation sequencing reveals a novel role of lysine-specific demethylase 1 in adhesion of rhabdomyosarcoma cells.

Haydn T, Kehr S, Willmann D, Metzger E, Schüle R, Fulda S.

Int J Cancer. 2019 Nov 21. doi: 10.1002/ijc.32806. [Epub ahead of print]

PMID:
31755110
9.

Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).

Rattay TW, Boldt A, Völker M, Wiethoff S, Hengel H, Schüle R, Schöls L.

J Neurol. 2020 Feb;267(2):369-379. doi: 10.1007/s00415-019-09573-w. Epub 2019 Oct 23.

PMID:
31646384
10.

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R.

Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9.

11.

A Chemical Probe for Tudor Domain Protein Spindlin1 to Investigate Chromatin Function.

Fagan V, Johansson C, Gileadi C, Monteiro O, Dunford JE, Nibhani R, Philpott M, Malzahn J, Wells G, Faram R, Cribbs AP, Halidi N, Li F, Chau I, Greschik H, Velupillai S, Allali-Hassani A, Bennett J, Christott T, Giroud C, Lewis AM, Huber KVM, Athanasou N, Bountra C, Jung M, Schüle R, Vedadi M, Arrowsmith C, Xiong Y, Jin J, Fedorov O, Farnie G, Brennan PE, Oppermann U.

J Med Chem. 2019 Oct 24;62(20):9008-9025. doi: 10.1021/acs.jmedchem.9b00562. Epub 2019 Oct 15.

PMID:
31550156
12.

The Clinically Used Iron Chelator Deferasirox Is an Inhibitor of Epigenetic JumonjiC Domain-Containing Histone Demethylases.

Roatsch M, Hoffmann I, Abboud MI, Hancock RL, Tarhonskaya H, Hsu KF, Wilkins SE, Yeh TL, Lippl K, Serrer K, Moneke I, Ahrens TD, Robaa D, Wenzler S, Barthes NPF, Franz H, Sippl W, Lassmann S, Diederichs S, Schleicher E, Schofield CJ, Kawamura A, Schüle R, Jung M.

ACS Chem Biol. 2019 Aug 16;14(8):1737-1750. doi: 10.1021/acschembio.9b00289. Epub 2019 Jul 19.

PMID:
31287655
13.

Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neurons.

Rehbach K, Kesavan J, Hauser S, Ritzenhofen S, Jungverdorben J, Schüle R, Schöls L, Peitz M, Brüstle O.

Sci Rep. 2019 Jul 3;9(1):9615. doi: 10.1038/s41598-019-45246-4.

14.

Discovery of a Potent and Selective Fragment-like Inhibitor of Methyllysine Reader Protein Spindlin 1 (SPIN1).

Xiong Y, Greschik H, Johansson C, Seifert L, Bacher J, Park KS, Babault N, Martini M, Fagan V, Li F, Chau I, Christott T, Dilworth D, Barsyte-Lovejoy D, Vedadi M, Arrowsmith CH, Brennan P, Fedorov O, Jung M, Farnie G, Liu J, Oppermann U, Schüle R, Jin J.

J Med Chem. 2019 Oct 24;62(20):8996-9007. doi: 10.1021/acs.jmedchem.9b00522. Epub 2019 Jul 24.

PMID:
31260300
15.

Correlations between serum and CSF pNfH levels in ALS, FTD and controls: a comparison of three analytical approaches.

Wilke C, Pujol-Calderón F, Barro C, Stransky E, Blennow K, Michalak Z, Deuschle C, Jeromin A, Zetterberg H, Schüle R, Höglund K, Kuhle J, Synofzik M.

Clin Chem Lab Med. 2019 Sep 25;57(10):1556-1564. doi: 10.1515/cclm-2019-0015.

PMID:
31251725
16.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. No abstract available.

17.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R.

Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.

PMID:
31135052
18.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A.

Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.

PMID:
31068484
19.

KMT9 monomethylates histone H4 lysine 12 and controls proliferation of prostate cancer cells.

Metzger E, Wang S, Urban S, Willmann D, Schmidt A, Offermann A, Allen A, Sum M, Obier N, Cottard F, Ulferts S, Preca BT, Hermann B, Maurer J, Greschik H, Hornung V, Einsle O, Perner S, Imhof A, Jung M, Schüle R.

Nat Struct Mol Biol. 2019 May;26(5):361-371. doi: 10.1038/s41594-019-0219-9. Epub 2019 May 6.

PMID:
31061526
20.

Tenets of Quality Management Systems Are Needed in Sterile Processing.

Sheffer J, Fish J, Hendee S, Hildebrand E, Klacik SG, Schule R.

Biomed Instrum Technol. 2019 Jun;53(s2):9-15. doi: 10.2345/0899-8205-53.s2.9. No abstract available.

PMID:
31013124
21.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Erratum in: Am J Hum Genet. 2019 Jun 6;104(6):1251.

22.

Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Minnerop M, Kurzwelly D, Wagner H, Schüle R, Ramirez A.

Brain. 2019 Apr 1;142(4):e13. doi: 10.1093/brain/awz042. No abstract available.

PMID:
30847463
23.

Correction: LSD1 inhibition by tranylcypromine derivatives interferes with GFI1-mediated repression of PU.1 target genes and induces differentiation in AML.

Barth J, Abou-El-Ardat K, Dalic D, Kurrle N, Maier AM, Mohr S, Schütte J, Vassen L, Greve G, Schulz-Fincke J, Schmitt M, Tosic M, Metzger E, Bug G, Khandanpour C, Wagner SA, Lübbert M, Jung M, Serve H, Schüle R, Berg T.

Leukemia. 2019 Jun;33(6):1541. doi: 10.1038/s41375-019-0415-y.

PMID:
30837671
24.

LSD1 inhibition by tranylcypromine derivatives interferes with GFI1-mediated repression of PU.1 target genes and induces differentiation in AML.

Barth J, Abou-El-Ardat K, Dalic D, Kurrle N, Maier AM, Mohr S, Schütte J, Vassen L, Greve G, Schulz-Fincke J, Schmitt M, Tosic M, Metzger E, Bug G, Khandanpour C, Wagner SA, Lübbert M, Jung M, Serve H, Schüle R, Berg T.

Leukemia. 2019 Jun;33(6):1411-1426. doi: 10.1038/s41375-018-0375-7. Epub 2019 Jan 24. Erratum in: Leukemia. 2019 Mar 5;:.

PMID:
30679800
25.

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.

Nagel M, Reichbauer J, Böhringer J, Schelling Y, Krägeloh-Mann I, Schüle R, Ulmer U.

Stem Cell Res. 2019 Mar;35:101336. doi: 10.1016/j.scr.2018.10.021. Epub 2018 Nov 18.

26.

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.

Rattay TW, Just J, Röben B, Hengel H, Schüle R, Synofzik M, Söhn AS, Winter N, Dammeier N, Schöls L, Grimm A.

Orphanet J Rare Dis. 2018 Nov 3;13(1):194. doi: 10.1186/s13023-018-0939-7.

27.

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP.

Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198.

PMID:
30084953
28.

Serum neurofilament light chain is increased in hereditary spastic paraplegias.

Wilke C, Rattay TW, Hengel H, Zimmermann M, Brockmann K, Schöls L, Kuhle J, Schüle R, Synofzik M.

Ann Clin Transl Neurol. 2018 May 21;5(7):876-882. doi: 10.1002/acn3.583. eCollection 2018 Jul.

29.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R.

Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.

30.

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.

Pottier C, Rampersaud E, Baker M, Wu G, Wuu J, McCauley JL, Zuchner S, Schule R, Bermudez C, Hussain S, Cooley A, Wallace M, Zhang J, Taylor JP, Benatar M, Rademakers R.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):469-471. doi: 10.1080/21678421.2018.1452947. Epub 2018 Mar 20.

31.

The histone acetyltransferase inhibitor Nir regulates epidermis development.

Duteil D, Tourrette Y, Eberlin A, Willmann D, Patel D, Friedrichs N, Müller JM, Schüle R.

Development. 2018 Mar 21;145(6). pii: dev158543. doi: 10.1242/dev.158543.

32.

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

Newton T, Allison R, Edgar JR, Lumb JH, Rodger CE, Manna PT, Rizo T, Kohl Z, Nygren AOH, Arning L, Schüle R, Depienne C, Goldberg L, Frahm C, Stevanin G, Durr A, Schöls L, Winner B, Beetz C, Reid E.

Brain. 2018 May 1;141(5):1286-1299. doi: 10.1093/brain/awy034.

33.

Lsd1 regulates skeletal muscle regeneration and directs the fate of satellite cells.

Tosic M, Allen A, Willmann D, Lepper C, Kim J, Duteil D, Schüle R.

Nat Commun. 2018 Jan 25;9(1):366. doi: 10.1038/s41467-017-02740-5.

34.

Inflammatory Pathways Regulated by Tumor Necrosis Receptor-Associated Factor 1 Protect From Metabolic Consequences in Diet-Induced Obesity.

Anto Michel N, Colberg C, Buscher K, Sommer B, Pramod AB, Ehinger E, Dufner B, Hoppe N, Pfeiffer K, Marchini T, Willecke F, Stachon P, Hilgendorf I, Heidt T, von Zur Muhlen C, von Elverfeldt D, Pfeifer D, Schüle R, Kintscher U, Brachs S, Ley K, Bode C, Zirlik A, Wolf D.

Circ Res. 2018 Mar 2;122(5):693-700. doi: 10.1161/CIRCRESAHA.117.312055. Epub 2018 Jan 22.

35.

Structure-activity studies on N-Substituted tranylcypromine derivatives lead to selective inhibitors of lysine specific demethylase 1 (LSD1) and potent inducers of leukemic cell differentiation.

Schulz-Fincke J, Hau M, Barth J, Robaa D, Willmann D, Kürner A, Haas J, Greve G, Haydn T, Fulda S, Lübbert M, Lüdeke S, Berg T, Sippl W, Schüle R, Jung M.

Eur J Med Chem. 2018 Jan 20;144:52-67. doi: 10.1016/j.ejmech.2017.12.001. Epub 2017 Dec 6.

PMID:
29247860
36.

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.

Minnerop M, Kurzwelly D, Rattay TW, Timmann D, Hengel H, Synofzik M, Stendel C, Horvath R, Schüle R, Ramirez A.

Brain. 2018 Jan 1;141(1):e2. doi: 10.1093/brain/awx291. No abstract available.

37.

RORβ Spinal Interneurons Gate Sensory Transmission during Locomotion to Secure a Fluid Walking Gait.

Koch SC, Del Barrio MG, Dalet A, Gatto G, Günther T, Zhang J, Seidler B, Saur D, Schüle R, Goulding M.

Neuron. 2017 Dec 20;96(6):1419-1431.e5. doi: 10.1016/j.neuron.2017.11.011. Epub 2017 Dec 7.

38.

The histone code reader Spin1 controls skeletal muscle development.

Greschik H, Duteil D, Messaddeq N, Willmann D, Arrigoni L, Sum M, Jung M, Metzger D, Manke T, Günther T, Schüle R.

Cell Death Dis. 2017 Nov 23;8(11):e3173. doi: 10.1038/cddis.2017.468.

39.

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M.

Neurobiol Aging. 2018 Feb;62:244.e9-244.e13. doi: 10.1016/j.neurobiolaging.2017.10.010. Epub 2017 Oct 24.

PMID:
29137817
40.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R.

Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273.

41.

Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

Schüle R.

Brain. 2017 Dec 1;140(12):e74. doi: 10.1093/brain/awx282. No abstract available.

42.

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans CD, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-Mann I, Schöls L, Synofzik M.

J Med Genet. 2018 Jan;55(1):39-47. doi: 10.1136/jmedgenet-2017-104622. Epub 2017 Sep 15.

PMID:
28916646
43.

KDM4 Inhibition Targets Breast Cancer Stem-like Cells.

Metzger E, Stepputtis SS, Strietz J, Preca BT, Urban S, Willmann D, Allen A, Zenk F, Iovino N, Bronsert P, Proske A, Follo M, Boerries M, Stickeler E, Xu J, Wallace MB, Stafford JA, Kanouni T, Maurer J, Schüle R.

Cancer Res. 2017 Nov 1;77(21):5900-5912. doi: 10.1158/0008-5472.CAN-17-1754. Epub 2017 Sep 7.

44.

Lsd1, a metabolic sensor of environment requirements that prevents adipose tissue from aging.

Duteil D, Tosic M, Schüle R.

Adipocyte. 2017 Oct 2;6(4):298-303. doi: 10.1080/21623945.2017.1345831. Epub 2017 Jul 12. Review.

45.

[Ataxias and hereditary spastic paraplegias].

Schüle R, Schöls L.

Nervenarzt. 2017 Jul;88(7):720-727. doi: 10.1007/s00115-017-0357-4. Review. German.

PMID:
28600743
46.

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.

Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schöls L, Züchner S.

Mol Genet Genomic Med. 2017 Apr 5;5(3):280-286. doi: 10.1002/mgg3.285. eCollection 2017 May.

47.

Lsd1 prevents age-programed loss of beige adipocytes.

Duteil D, Tosic M, Willmann D, Georgiadi A, Kanouni T, Schüle R.

Proc Natl Acad Sci U S A. 2017 May 16;114(20):5265-5270. doi: 10.1073/pnas.1702641114. Epub 2017 May 1.

48.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Erratum in: Brain. 2017 Dec 9;:.

49.

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

Hengel H, Magee A, Mahanjah M, Vallat JM, Ouvrier R, Abu-Rashid M, Mahamid J, Schüle R, Schulze M, Krägeloh-Mann I, Bauer P, Züchner S, Sharkia R, Schöls L.

Neurol Genet. 2017 Mar 22;3(2):e144. doi: 10.1212/NXG.0000000000000144. eCollection 2017 Apr.

50.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E.

Clin Genet. 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008. Epub 2017 Apr 19.

Supplemental Content

Loading ...
Support Center