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Results: 1 to 20 of 237

1.

Unraveling Cellular Phenotypes of Novel TOR1A mutations.

Vulinovic F, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, Weißbach A, Erogullari A, Kaiser FJ, Wiegers K, Ferbert A, Rolfs A, Klein C, Seibler P.

Hum Mutat. 2014 Jun 13. doi: 10.1002/humu.22604. [Epub ahead of print]

PMID:
24931141
[PubMed - as supplied by publisher]
2.

Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease.

Samuelsson K, Kostulas K, Vrethem M, Rolfs A, Press R.

J Clin Neurol. 2014 Apr;10(2):108-18. doi: 10.3988/jcn.2014.10.2.108. Epub 2014 Apr 23.

PMID:
24829596
[PubMed]
Free PMC Article
3.

Aberrant expressions of delta-protocadherins in the brain of Npc1 mutant mice.

Yan X, Lukas J, Lin J, Ernst M, Koczan D, Witt M, Fuellen G, Wree A, Rolfs A, Luo J.

Histol Histopathol. 2014 Mar 26. [Epub ahead of print]

PMID:
24671883
[PubMed - as supplied by publisher]
4.

Hyperactive glial cells contribute to axonal pathologies in the spinal cord of Npc1 mutant mice.

Yan X, Yang F, Lukas J, Witt M, Wree A, Rolfs A, Luo J.

Glia. 2014 Jul;62(7):1024-40. doi: 10.1002/glia.22659. Epub 2014 Mar 19.

PMID:
24644136
[PubMed - in process]
5.

Continuous cardiac troponin I release in Fabry disease.

Feustel A, Hahn A, Schneider C, Sieweke N, Franzen W, Gündüz D, Rolfs A, Tanislav C.

PLoS One. 2014 Mar 13;9(3):e91757. doi: 10.1371/journal.pone.0091757. eCollection 2014.

PMID:
24626231
[PubMed - in process]
Free PMC Article
6.

[The Rostock Headache Questionnaire ("Rokoko")--validation of a tool to screen and to qualify primary headaches].

Müller B, Baum A, Holzhausen M, Grittner U, Hilgendorf I, Martus P, Altiner A, Evers S, Rolfs A, Zettl UK, Kropp P.

Fortschr Neurol Psychiatr. 2014 Mar;82(3):145-8. doi: 10.1055/s-0034-1365981. Epub 2014 Mar 10. German.

PMID:
24615585
[PubMed - in process]
7.

The Hippo transducer TAZ interacts with the SWI/SNF complex to regulate breast epithelial lineage commitment.

Skibinski A, Breindel JL, Prat A, Galván P, Smith E, Rolfs A, Gupta PB, Labaer J, Kuperwasser C.

Cell Rep. 2014 Mar 27;6(6):1059-72. doi: 10.1016/j.celrep.2014.02.038. Epub 2014 Mar 6.

PMID:
24613358
[PubMed - in process]
Free Article
8.

Lessons from everyday stroke care for clinical research and vice versa: comparison of a comprehensive and a research population of young stroke patients.

Tanislav C, Grittner U, Misselwitz B, Jungehuelsing GJ, Enzinger C, von Sarnowski B, Putaala J, Kaps M, Kropp P, Rolfs A, Tatlisumak T, Fazekas F, Kolodny E, Norrving B.

BMC Neurol. 2014 Mar 7;14:45. doi: 10.1186/1471-2377-14-45.

PMID:
24607068
[PubMed - in process]
Free PMC Article
9.

HES5 Is a Key Mediator of Wnt-3a-Induced Neuronal Differentiation.

Mußmann C, Hübner R, Trilck M, Rolfs A, Frech MJ.

Stem Cells Dev. 2014 Jun 15;23(12):1328-39. doi: 10.1089/scd.2013.0557. Epub 2014 Mar 25.

PMID:
24548083
[PubMed - in process]
10.

The novel arylindolylmaleimide PDA-66 displays pronounced antiproliferative effects in acute lymphoblastic leukemia cells.

Kretzschmar C, Roolf C, Langhammer TS, Sekora A, Pews-Davtyan A, Beller M, Frech MJ, Eisenlöffel C, Rolfs A, Junghanss C.

BMC Cancer. 2014 Feb 6;14:71. doi: 10.1186/1471-2407-14-71.

PMID:
24502201
[PubMed - in process]
Free PMC Article
11.

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.

te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.

J Clin Invest. 2014 Mar 3;124(3):1320-8.

PMID:
24487591
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

ADAM10 negatively regulates neuronal differentiation during spinal cord development.

Yan X, Lin J, Talabattula VA, Mußmann C, Yang F, Wree A, Rolfs A, Luo J.

PLoS One. 2014 Jan 3;9(1):e84617. doi: 10.1371/journal.pone.0084617. eCollection 2014.

PMID:
24404179
[PubMed - in process]
Free PMC Article
13.

Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.

Niemann M, Rolfs A, Störk S, Bijnens B, Breunig F, Beer M, Ertl G, Wanner C, Weidemann F.

Circ Cardiovasc Genet. 2014 Feb;7(1):8-16. doi: 10.1161/CIRCGENETICS.113.000249. Epub 2014 Jan 6.

PMID:
24395922
[PubMed - in process]
14.

Olfactory deficits in Niemann-Pick type C1 (NPC1) disease.

Hovakimyan M, Meyer A, Lukas J, Luo J, Gudziol V, Hummel T, Rolfs A, Wree A, Witt M.

PLoS One. 2013 Dec 31;8(12):e82216. doi: 10.1371/journal.pone.0082216. eCollection 2013.

PMID:
24391715
[PubMed - in process]
Free PMC Article
15.

Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family.

Ilgaz Aydinlar E, Rolfs A, Serteser M, Parman Y.

Muscle Nerve. 2014 May;49(5):774-5. doi: 10.1002/mus.24145. No abstract available.

PMID:
24327336
[PubMed - indexed for MEDLINE]
16.

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.

Rolfs A, Giese AK, Grittner U, Mascher D, Elstein D, Zimran A, Böttcher T, Lukas J, Hübner R, Gölnitz U, Röhle A, Dudesek A, Meyer W, Wittstock M, Mascher H.

PLoS One. 2013 Nov 20;8(11):e79732. doi: 10.1371/journal.pone.0079732. eCollection 2013.

PMID:
24278166
[PubMed - in process]
Free PMC Article
17.

[Home-based infusion therapy--a feasible approach for chronically ill patients? A new path to provide superior patient care exemplified for Fabry's disease].

Beck M, Gaedeke J, Martus P, Karabul N, Rolfs A.

Dtsch Med Wochenschr. 2013 Nov;138(46):2345-50. doi: 10.1055/s-0033-1349624. Epub 2013 Nov 5. German.

PMID:
24193859
[PubMed - indexed for MEDLINE]
18.

MRI in acute cerebral ischemia of the young: the Stroke in Young Fabry Patients (sifap1) Study.

Fazekas F, Enzinger C, Schmidt R, Dichgans M, Gaertner B, Jungehulsing GJ, Hennerici MG, Heuschmann P, Holzhausen M, Kaps M, Kessler C, Martus P, Putaala J, Ropele S, Tanislav C, Tatlisumak T, Norrving B, Rolfs A; sifap1 Investigators.

Neurology. 2013 Nov 26;81(22):1914-21. doi: 10.1212/01.wnl.0000436611.28210.ec. Epub 2013 Nov 1.

PMID:
24186912
[PubMed - indexed for MEDLINE]
19.

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.

Trilck M, Hübner R, Seibler P, Klein C, Rolfs A, Frech MJ.

Orphanet J Rare Dis. 2013 Sep 18;8:144. doi: 10.1186/1750-1172-8-144.

PMID:
24044630
[PubMed - in process]
Free PMC Article
20.

Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

Böttcher T, Rolfs A, Tanislav C, Bitsch A, Köhler W, Gaedeke J, Giese AK, Kolodny EH, Duning T.

PLoS One. 2013 Aug 28;8(8):e71894. doi: 10.1371/journal.pone.0071894. eCollection 2013.

PMID:
24015197
[PubMed - indexed for MEDLINE]
Free PMC Article

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