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Items: 1 to 20 of 252

1.

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.

Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan K, Waldrop M, Schrader R, Juusola J; Undiagnosed Diseases Network, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QKG, Schaaf CP, Meng L.

Hum Mutat. 2019 Nov 7. doi: 10.1002/humu.23950. [Epub ahead of print]

PMID:
31696996
2.

First Use of a New Robotic Endoscope Guiding System in Endoscopic Orbital Decompression.

Mattheis S, Schlüter A, Stähr K, Holtmann L, Höing B, Hussain T, Kanaan O, Eckstein A, Lang S.

Ear Nose Throat J. 2019 Nov 6:145561319885803. doi: 10.1177/0145561319885803. [Epub ahead of print]

PMID:
31690110
3.

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.

Verdura E, Fons C, Schlüter A, Ruiz M, Fourcade S, Casasnovas C, Castellano A, Pujol A.

J Med Genet. 2019 Oct 5. pii: jmedgenet-2019-106373. doi: 10.1136/jmedgenet-2019-106373. [Epub ahead of print]

PMID:
31586945
4.

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.

De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A.

Mov Disord. 2019 Aug 21. doi: 10.1002/mds.27812. [Epub ahead of print]

PMID:
31433872
5.

Dynamic Regulation of Synaptopodin and the Axon Initial Segment in Retinal Ganglion Cells During Postnatal Development.

Schlüter A, Rossberger S, Dannehl D, Janssen JM, Vorwald S, Hanne J, Schultz C, Mauceri D, Engelhardt M.

Front Cell Neurosci. 2019 Jul 30;13:318. doi: 10.3389/fncel.2019.00318. eCollection 2019.

6.

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R.

J Inherit Metab Dis. 2019 Jul 24. doi: 10.1002/jimd.12156. [Epub ahead of print]

PMID:
31339582
7.

Fingolimod Improves the Outcome of Experimental Graves' Disease and Associated Orbitopathy by Modulating the Autoimmune Response to the Thyroid-Stimulating Hormone Receptor.

Plöhn S, Hose M, Schlüter A, Michel L, Diaz-Cano S, Hendgen-Cotta UB, Banga JP, Bechrakis NE, Hansen W, Eckstein A, Berchner-Pfannschmidt U.

Thyroid. 2019 Sep;29(9):1286-1301. doi: 10.1089/thy.2018.0754.

PMID:
31237525
8.

Effect of Long-Term Farming Practices on Agricultural Soil Microbiome Members Represented by Metagenomically Assembled Genomes (MAGs) and Their Predicted Plant-Beneficial Genes.

Nelkner J, Henke C, Lin TW, Pätzold W, Hassa J, Jaenicke S, Grosch R, Pühler A, Sczyrba A, Schlüter A.

Genes (Basel). 2019 Jun 3;10(6). pii: E424. doi: 10.3390/genes10060424.

9.

Histone Deacetylases Contribute to Excitotoxicity-Triggered Degeneration of Retinal Ganglion Cells In Vivo.

Schlüter A, Aksan B, Fioravanti R, Valente S, Mai A, Mauceri D.

Mol Neurobiol. 2019 Dec;56(12):8018-8034. doi: 10.1007/s12035-019-01658-x. Epub 2019 Jun 3.

PMID:
31161423
10.

Codon Usage Heterogeneity in the Multipartite Prokaryote Genome: Selection-Based Coding Bias Associated with Gene Location, Expression Level, and Ancestry.

López JL, Lozano MJ, Lagares A Jr, Fabre ML, Draghi WO, Del Papa MF, Pistorio M, Becker A, Wibberg D, Schlüter A, Pühler A, Blom J, Goesmann A, Lagares A.

MBio. 2019 May 28;10(3). pii: e00505-19. doi: 10.1128/mBio.00505-19.

11.

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.

Casasnovas C, Ruiz M, Schlüter A, Naudí A, Fourcade S, Veciana M, Castañer S, Albertí A, Bargalló N, Johnson M, Raymond GV, Fatemi A, Moser AB, Villarroya F, Portero-Otín M, Artuch R, Pamplona R, Pujol A.

Neurotherapeutics. 2019 May 10. doi: 10.1007/s13311-019-00735-2. [Epub ahead of print]

PMID:
31077039
12.

A comprehensive analysis of the Lactuca sativa, L. transcriptome during different stages of the compatible interaction with Rhizoctonia solani.

Verwaaijen B, Wibberg D, Winkler A, Zrenner R, Bednarz H, Niehaus K, Grosch R, Pühler A, Schlüter A.

Sci Rep. 2019 May 10;9(1):7221. doi: 10.1038/s41598-019-43706-5.

13.

A novel mutation in the GFAP gene expands the phenotype of Alexander disease.

Casasnovas C, Verdura E, Vélez V, Schlüter A, Pons-Escoda A, Homedes C, Ruiz M, Fourcade S, Launay N, Pujol A.

J Med Genet. 2019 Apr 19. pii: jmedgenet-2018-105959. doi: 10.1136/jmedgenet-2018-105959. [Epub ahead of print]

PMID:
31004048
14.

Insight into the structure, function and conjugative transfer of pLPU83a, an accessory plasmid of Rhizobium favelukesii LPU83.

Castellani LG, Nilsson JF, Wibberg D, Schlüter A, Pühler A, Brom S, Pistorio M, Torres Tejerizo G.

Plasmid. 2019 May;103:9-16. doi: 10.1016/j.plasmid.2019.03.004. Epub 2019 Mar 27.

PMID:
30928704
15.

[A 34-year-old patient with retropharyngeal tendinitis].

Zipfel N, Schlüter A, Keyßer G, Schäfer C.

Z Rheumatol. 2019 Jun;78(5):458-460. doi: 10.1007/s00393-019-0620-0. German.

PMID:
30838437
16.

Nudging tourists to donate for conservation: Experimental evidence on soliciting voluntary contributions for coastal management.

Nelson KM, Partelow S, Schlüter A.

J Environ Manage. 2019 May 1;237:30-43. doi: 10.1016/j.jenvman.2019.02.003. Epub 2019 Feb 16.

PMID:
30780053
17.

Sociocultural heterogeneity in a common pool resource dilemma.

Gehrig S, Schlüter A, Hammerstein P.

PLoS One. 2019 Jan 17;14(1):e0210561. doi: 10.1371/journal.pone.0210561. eCollection 2019.

18.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A.

J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.

19.

A comparative analysis of piezosurgery and oscillating saw for balanced orbital decompression.

Stähr K, Eckstein A, Holtmann L, Schlüter A, Dendy M, Lang S, Mattheis S.

Orbit. 2019 Dec;38(6):433-439. doi: 10.1080/01676830.2018.1552709. Epub 2018 Dec 4.

PMID:
30513237
20.

[Corrective Surgery of Severe Esotropia after Decompression in Patients with Graves' Orbitopathy - Comparison of Tendon Elongation and Recession of the Medial Rectus Muscle].

Oeverhaus M, Fischer M, Schlüter A, Esser J, Eckstein A.

Klin Monbl Augenheilkd. 2018 Oct;235(10):1105-1114. doi: 10.1055/a-0719-5354. Epub 2018 Oct 16. German.

PMID:
30326533

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