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Items: 1 to 50 of 136

1.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A.

Am J Hum Genet. 2019 Aug 5. pii: S0002-9297(19)30273-3. doi: 10.1016/j.ajhg.2019.07.010. [Epub ahead of print]

PMID:
31422817
2.

Non-Contrast-Enhanced Carotid MRA: Clinical Evaluation of a Novel Ungated Radial Quiescent-Interval Slice-Selective MRA at 1.5T.

Peters S, Huhndorf M, Jensen-Kondering U, Larsen N, Koktzoglou I, Edelman RR, Graessner J, Both M, Jansen O, Salehi Ravesh M.

AJNR Am J Neuroradiol. 2019 Aug 8. doi: 10.3174/ajnr.A6171. [Epub ahead of print]

PMID:
31395666
3.

Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer's Disease and CSF Amyloid Biomarkers in APOE ε4 Non-Carriers.

Huentelman M, De Both M, Jepsen W, Piras IS, Talboom JS, Willeman M, Reiman EM, Hardy J, Myers AJ.

Sci Rep. 2019 Jul 3;9(1):9640. doi: 10.1038/s41598-019-45896-4.

4.

Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.

Jepsen WM, Ramsey K, Szelinger S, Llaci L, Balak C, Belnap N, Bilagody C, De Both M, Gupta R, Naymik M, Pandey R, Piras IS, Sanchez-Castillo M, Rangasamy S, Narayanan V, Huentelman MJ.

Clin Genet. 2019 Aug;96(2):183-185. doi: 10.1111/cge.13580. Epub 2019 Jun 24. No abstract available.

PMID:
31236915
5.

Family history of Alzheimer's disease alters cognition and is modified by medical and genetic factors.

Talboom JS, Håberg A, De Both MD, Naymik MA, Schrauwen I, Lewis CR, Bertinelli SF, Hammersland C, Fritz MA, Myers AJ, Hay M, Barnes CA, Glisky E, Ryan L, Huentelman MJ.

Elife. 2019 Jun 18;8. pii: e46179. doi: 10.7554/eLife.46179.

6.

Association of AEBP1 and NRN1 RNA expression with Alzheimer's disease and neurofibrillary tangle density in middle temporal gyrus.

Piras IS, Krate J, Delvaux E, Nolz J, De Both MD, Mastroeni DF, Serrano GE, Sue LI, Beach TG, Coleman PD, Huentelman MJ.

Brain Res. 2019 Sep 15;1719:217-224. doi: 10.1016/j.brainres.2019.06.004. Epub 2019 Jun 6.

PMID:
31176712
7.

Limitations of Fat-Free Mass for the Assessment of Muscle Mass in Obesity.

Jensen B, Braun W, Geisler C, Both M, Klückmann K, Müller MJ, Bosy-Westphal A.

Obes Facts. 2019;12(3):307-315. doi: 10.1159/000499607. Epub 2019 May 27.

8.

Non-contrast-enhanced magnetic resonance imaging for visualization and quantification of endovascular aortic prosthesis, their endoleaks and aneurysm sacs at 1.5 T.

Salehi Ravesh M, Langguth P, Pfarr JA, Schupp J, Trentmann J, Koktzoglou I, Edelman RR, Graessner J, Greiser A, Hautemann D, Hennemuth A, Both M, Jansen O, Hövener JB, Schäfer JP.

Magn Reson Imaging. 2019 Jul;60:164-172. doi: 10.1016/j.mri.2019.05.012. Epub 2019 May 7.

PMID:
31075419
9.

Calcium isotope ratios in blood and urine: A new biomarker for the diagnosis of osteoporosis.

Eisenhauer A, Müller M, Heuser A, Kolevica A, Glüer CC, Both M, Laue C, Hehn UV, Kloth S, Shroff R, Schrezenmeir J.

Bone Rep. 2019 Mar 16;10:100200. doi: 10.1016/j.bonr.2019.100200. eCollection 2019 Jun.

10.

Gradual hypertension induction in middle-aged Cyp1a1-Ren2 transgenic rats produces significant impairments in spatial learning.

Willeman MN, Chawla MK, Zempare MA, Biwer LA, Hoang LT, Uprety AR, Fitzhugh MC, De Both M, Coleman PD, Trouard TP, Alexander GE, Mitchell KD, Barnes CA, Hale TM, Huentelman M.

Physiol Rep. 2019 Mar;7(6):e14010. doi: 10.14814/phy2.14010.

11.

Optimization of 3D phase contrast venography for the assessment of the cranio-cervical venous system at 1.5 T.

Salehi Ravesh M, Jensen-Kondering U, Juhasz J, Peters S, Huhndorf M, Graessner J, Möbius TWD, Both M, Jansen O, Hövener JB.

Neuroradiology. 2019 Mar;61(3):293-304. doi: 10.1007/s00234-018-2146-6. Epub 2019 Jan 4.

PMID:
30607475
12.

The needle in the (organ) haystack.

Langguth P, Haneya A, Both M.

Eur Heart J Cardiovasc Imaging. 2019 Jan 1;20(1):30. doi: 10.1093/ehjci/jey165. No abstract available.

PMID:
30445519
13.

Why Asplenic Patients Should Not Take Care of the Neighbour's Dog? A Fatal Course of Capnocytophaga canimorsus Sepsis.

Langguth P, Leissner L, Zick G, Fischer A, Stuhlmann-Laiesz C, Salehi Ravesh M, Austein F, Jansen O, Both M.

Case Rep Infect Dis. 2018 Aug 2;2018:3870640. doi: 10.1155/2018/3870640. eCollection 2018.

14.

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.

Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V.

Am J Med Genet A. 2018 Jul;176(7):1549-1558. doi: 10.1002/ajmg.a.38712.

PMID:
30160831
15.

A Guide to Single-Cell Transcriptomics in Adult Rodent Brain: The Medium Spiny Neuron Transcriptome Revisited.

Ho H, Both M, Siniard A, Sharma S, Notwell JH, Wallace M, Leone DP, Nguyen A, Zhao E, Lee H, Zwilling D, Thompson KR, Braithwaite SP, Huentelman M, Portmann T.

Front Cell Neurosci. 2018 Jun 15;12:159. doi: 10.3389/fncel.2018.00159. eCollection 2018.

16.

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V.

Semin Pediatr Neurol. 2018 Jul;26:28-32. doi: 10.1016/j.spen.2017.08.008. Epub 2017 Aug 16.

PMID:
29961512
17.

Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.

Huentelman MJ, Piras IS, Siniard AL, De Both MD, Richholt RF, Balak CD, Jamshidi P, Bigio EH, Weintraub S, Loyer ET, Mesulam MM, Geula C, Rogalski EJ.

Front Aging Neurosci. 2018 May 29;10:155. doi: 10.3389/fnagi.2018.00155. eCollection 2018.

18.

The PKC-β selective inhibitor, Enzastaurin, impairs memory in middle-aged rats.

Willeman MN, Mennenga SE, Siniard AL, Corneveaux JJ, De Both M, Hewitt LT, Tsang CWS, Caselli J, Braden BB, Bimonte-Nelson HA, Huentelman MJ.

PLoS One. 2018 Jun 5;13(6):e0198256. doi: 10.1371/journal.pone.0198256. eCollection 2018.

19.

Manifestation of granulomatosis with polyangiitis in head and neck.

Kühn D, Hospowsky C, Both M, Hey M, Laudien M.

Clin Exp Rheumatol. 2018 Mar-Apr;36 Suppl 111(2):78-84. Epub 2018 May 18.

20.

Dietary pattern associated with selenoprotein P and MRI-derived body fat volumes, liver signal intensity, and metabolic disorders.

di Giuseppe R, Plachta-Danielzik S, Koch M, Nöthlings U, Schlesinger S, Borggrefe J, Both M, Müller HP, Kassubek J, Jacobs G, Lieb W.

Eur J Nutr. 2019 Apr;58(3):1067-1079. doi: 10.1007/s00394-018-1624-2. Epub 2018 Feb 14.

PMID:
29445913
21.

Hippocampal Transcriptomic Profiles: Subfield Vulnerability to Age and Cognitive Impairment.

Ianov L, De Both M, Chawla MK, Rani A, Kennedy AJ, Piras I, Day JJ, Siniard A, Kumar A, Sweatt JD, Barnes CA, Huentelman MJ, Foster TC.

Front Aging Neurosci. 2017 Dec 8;9:383. doi: 10.3389/fnagi.2017.00383. eCollection 2017.

22.

Local oxygen homeostasis during various neuronal network activity states in the mouse hippocampus.

Schneider J, Berndt N, Papageorgiou IE, Maurer J, Bulik S, Both M, Draguhn A, Holzhütter HG, Kann O.

J Cereb Blood Flow Metab. 2019 May;39(5):859-873. doi: 10.1177/0271678X17740091. Epub 2017 Nov 3.

PMID:
29099662
23.

Association of Vitamin E Levels with Metabolic Syndrome, and MRI-Derived Body Fat Volumes and Liver Fat Content.

Waniek S, di Giuseppe R, Plachta-Danielzik S, Ratjen I, Jacobs G, Koch M, Borggrefe J, Both M, Müller HP, Kassubek J, Nöthlings U, Esatbeyoglu T, Schlesinger S, Rimbach G, Lieb W.

Nutrients. 2017 Oct 18;9(10). pii: E1143. doi: 10.3390/nu9101143.

24.

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

Piras IS, Mills G, Llaci L, Naymik M, Ramsey K, Belnap N, Balak CD, Jepsen WM, Szelinger S, Siniard AL, Lewis CR, LaFleur M, Richholt RF, De Both MD, Avela K, Rangasamy S, Craig DW, Narayanan V, Järvelä I, Huentelman MJ, Schrauwen I.

Epigenomics. 2017 Nov;9(11):1373-1386. doi: 10.2217/epi-2017-0060. Epub 2017 Oct 2.

PMID:
28967789
25.

Heteromeric channels formed by TRPC1, TRPC4 and TRPC5 define hippocampal synaptic transmission and working memory.

Bröker-Lai J, Kollewe A, Schindeldecker B, Pohle J, Nguyen Chi V, Mathar I, Guzman R, Schwarz Y, Lai A, Weißgerber P, Schwegler H, Dietrich A, Both M, Sprengel R, Draguhn A, Köhr G, Fakler B, Flockerzi V, Bruns D, Freichel M.

EMBO J. 2017 Sep 15;36(18):2770-2789. doi: 10.15252/embj.201696369. Epub 2017 Aug 8.

26.

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.

Banuelos E, Ramsey K, Belnap N, Krishnan M, Balak C, Szelinger S, Siniard AL, Russell M, Richholt R, De Both M, Piras I, Naymik M, Claasen AM, Rangasamy S, Huentelman MJ, Craig DW, Campeau PM, Narayanan V, Schrauwen I.

F1000Res. 2017 Apr 24;6:553. doi: 10.12688/f1000research.10588.1. eCollection 2017.

27.

Circulating selenoprotein P levels in relation to MRI-derived body fat volumes, liver fat content, and metabolic disorders.

di Giuseppe R, Koch M, Schlesinger S, Borggrefe J, Both M, Müller HP, Kassubek J, Jacobs G, Nöthlings U, Lieb W.

Obesity (Silver Spring). 2017 Jun;25(6):1128-1135. doi: 10.1002/oby.21841. Epub 2017 May 5.

28.

Identification of a drimenol synthase and drimenol oxidase from Persicaria hydropiper, involved in the biosynthesis of insect deterrent drimanes.

Henquet MGL, Prota N, van der Hooft JJJ, Varbanova-Herde M, Hulzink RJM, de Vos M, Prins M, de Both MTJ, Franssen MCR, Bouwmeester H, Jongsma M.

Plant J. 2017 Jun;90(6):1052-1063. doi: 10.1111/tpj.13527. Epub 2017 Apr 26.

29.

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I.

Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31.

PMID:
28139025
30.

Spontaneous rectus sheath hematoma in pregnancy and a systematic anatomical workup of rectus sheath hematoma: a case report.

Eckhoff K, Wedel T, Both M, Bas K, Maass N, Alkatout I.

J Med Case Rep. 2016 Oct 19;10(1):292. Review.

31.

Differential effects of oxytocin on mouse hippocampal oscillations in vitro.

Maier P, Kaiser ME, Grinevich V, Draguhn A, Both M.

Eur J Neurosci. 2016 Dec;44(11):2885-2898. doi: 10.1111/ejn.13412. Epub 2016 Oct 14.

PMID:
27717106
32.

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

Moskowitz AM, Belnap N, Siniard AL, Szelinger S, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Balak C, Piras IS, Russell M, Courtright AL, Rangasamy S, Ramsey K, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I.

Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a000851. doi: 10.1101/mcs.a000851.

33.

Amyloid Precursor Protein Protects Neuronal Network Function after Hypoxia via Control of Voltage-Gated Calcium Channels.

Hefter D, Kaiser M, Weyer SW, Papageorgiou IE, Both M, Kann O, Müller UC, Draguhn A.

J Neurosci. 2016 Aug 10;36(32):8356-71. doi: 10.1523/JNEUROSCI.4130-15.2016.

34.

Engineering of Tomato Glandular Trichomes for the Production of Specialized Metabolites.

Kortbeek RW, Xu J, Ramirez A, Spyropoulou E, Diergaarde P, Otten-Bruggeman I, de Both M, Nagel R, Schmidt A, Schuurink RC, Bleeker PM.

Methods Enzymol. 2016;576:305-31. doi: 10.1016/bs.mie.2016.02.014. Epub 2016 Mar 24.

PMID:
27480691
35.

Downstream effects of hippocampal sharp wave ripple oscillations on medial entorhinal cortex layer V neurons in vitro.

Roth FC, Beyer KM, Both M, Draguhn A, Egorov AV.

Hippocampus. 2016 Dec;26(12):1493-1508. doi: 10.1002/hipo.22623. Epub 2016 Aug 18.

PMID:
27479916
36.

Next-generation profiling to identify the molecular etiology of Parkinson dementia.

Henderson-Smith A, Corneveaux JJ, De Both M, Cuyugan L, Liang WS, Huentelman M, Adler C, Driver-Dunckley E, Beach TG, Dunckley TL.

Neurol Genet. 2016 May 24;2(3):e75. doi: 10.1212/NXG.0000000000000075. eCollection 2016 Jun.

37.

Scintigraphy Leading to the Misdiagnosis of Chronic Thromboembolic Disease in a Patient With Pulmonary Veno-Occlusive Disease.

Balke L, Both M, Winkler C, Schreiber T, Röcken C, Koch K, Bewig B.

Circulation. 2016 Apr 19;133(16):1627-8. doi: 10.1161/CIRCULATIONAHA.116.019171. No abstract available.

PMID:
27142608
38.

Association of SNPs in EGR3 and ARC with Schizophrenia Supports a Biological Pathway for Schizophrenia Risk.

Huentelman MJ, Muppana L, Corneveaux JJ, Dinu V, Pruzin JJ, Reiman R, Borish CN, De Both M, Ahmed A, Todorov A, Cloninger CR, Zhang R, Ma J, Gallitano AL.

PLoS One. 2015 Oct 16;10(10):e0135076. doi: 10.1371/journal.pone.0135076. eCollection 2015.

39.

Manifestation of eosinophilic granulomatosis with polyangiitis in head and neck.

Petersen H, Götz P, Both M, Hey M, Ambrosch P, Bremer JP, Holle J, Moosig F, Laudien M.

Rhinology. 2015 Sep;53(3):277-85. doi: 10.4193/Rhin14.074.

PMID:
26363169
40.

Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease.

Lalli MA, Bettcher BM, Arcila ML, Garcia G, Guzman C, Madrigal L, Ramirez L, Acosta-Uribe J, Baena A, Wojta KJ, Coppola G, Fitch R, de Both MD, Huentelman MJ, Reiman EM, Brunkow ME, Glusman G, Roach JC, Kao AW, Lopera F, Kosik KS.

Mol Psychiatry. 2015 Nov;20(11):1294-300. doi: 10.1038/mp.2015.131. Epub 2015 Sep 1.

41.

Clinical presentation and long-term outcome of 144 patients with microscopic polyangiitis in a monocentric German cohort.

Schirmer JH, Wright MN, Vonthein R, Herrmann K, Nölle B, Both M, Henes FO, Arlt A, Gross WL, Schinke S, Reinhold-Keller E, Moosig F, Holle JU.

Rheumatology (Oxford). 2016 Jan;55(1):71-9. doi: 10.1093/rheumatology/kev286. Epub 2015 Aug 20.

PMID:
26297628
42.

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

Schrauwen I, Szelinger S, Siniard AL, Kurdoglu A, Corneveaux JJ, Malenica I, Richholt R, Van Camp G, De Both M, Swaminathan S, Turk M, Ramsey K, Craig DW, Narayanan V, Huentelman MJ.

PLoS One. 2015 Jul 15;10(7):e0131797. doi: 10.1371/journal.pone.0131797. eCollection 2015.

43.

Myocardial Fibrosis in Hypertrophic Cardiomyopathy: Volumetric Assessment of Late Enhancement Provided by Cardiac Computed Tomography.

Langer C, Schaefer P, Lutz M, Eden M, Hohnhorst M, Harders H, Faber L, Jansen O, Both M, Frey N.

J Comput Assist Tomogr. 2015 Sep-Oct;39(5):797-803. doi: 10.1097/RCT.0000000000000272.

PMID:
26125299
44.

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

Schrauwen I, Szelinger S, Siniard AL, Corneveaux JJ, Kurdoglu A, Richholt R, De Both M, Malenica I, Swaminathan S, Rangasamy S, Kulkarni N, Bernes S, Buchhalter J, Ramsey K, Craig DW, Narayanan V, Huentelman MJ.

Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3896-904. doi: 10.1167/iovs.14-16261.

PMID:
26091538
45.

Activity-dependent plasticity of mouse hippocampal assemblies in vitro.

Keller MK, Draguhn A, Both M, Reichinnek S.

Front Neural Circuits. 2015 May 18;9:21. doi: 10.3389/fncir.2015.00021. eCollection 2015.

46.

[Orbital impalement by wooden foreign bodies - an interdisciplinary challenge].

Treumer F, Metzger LM, Both M, Rohnen M, Kandzia C, Wiltfang J, Roider J.

Klin Monbl Augenheilkd. 2015 Feb;232(2):189-92. doi: 10.1055/s-0034-1383386. Epub 2015 Feb 20. German. No abstract available.

PMID:
25700256
47.

Severe adult respiratory distress syndrome from Goodpasture syndrome. Survival using extracorporeal membrane oxygenation.

Balke L, Both M, Arlt A, Rosenberg M, Bewig B.

Am J Respir Crit Care Med. 2015 Jan 15;191(2):228-9. doi: 10.1164/rccm.201409-1625IM. No abstract available.

PMID:
25590156
48.

Late enhanced computed tomography in Hypertrophic Cardiomyopathy enables accurate left-ventricular volumetry.

Langer C, Both M, Harders H, Lutz M, Eden M, Kühl C, Sattler B, Jansen O, Schaefer P, Frey N.

Eur Radiol. 2015 Feb;25(2):575-84. doi: 10.1007/s00330-014-3434-0. Epub 2014 Oct 15.

PMID:
25316053
49.

Lamina-specific contribution of glutamatergic and GABAergic potentials to hippocampal sharp wave-ripple complexes.

Schönberger J, Draguhn A, Both M.

Front Neural Circuits. 2014 Aug 25;8:103. doi: 10.3389/fncir.2014.00103. eCollection 2014.

50.

Axon-carrying dendrites convey privileged synaptic input in hippocampal neurons.

Thome C, Kelly T, Yanez A, Schultz C, Engelhardt M, Cambridge SB, Both M, Draguhn A, Beck H, Egorov AV.

Neuron. 2014 Sep 17;83(6):1418-30. doi: 10.1016/j.neuron.2014.08.013. Epub 2014 Sep 4.

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