Portmann T - Search Results

1

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome.

Paşca SP, Portmann T, Voineagu I, Yazawa M, Shcheglovitov A, Paşca AM, Cord B, Palmer TD, Chikahisa S, Nishino S, Bernstein JA, Hallmayer J, Geschwind DH, Dolmetsch RE. Paşca SP, et al. Among authors: portmann t. Nat Med. 2011 Nov 27;17(12):1657-62. doi: 10.1038/nm.2576. Nat Med. 2011. PMID: 22120178 Free PMC article.

2

MicroRNA-mediated conversion of human fibroblasts to neurons.

Yoo AS, Sun AX, Li L, Shcheglovitov A, Portmann T, Li Y, Lee-Messer C, Dolmetsch RE, Tsien RW, Crabtree GR. Yoo AS, et al. Among authors: portmann t. Nature. 2011 Jul 13;476(7359):228-31. doi: 10.1038/nature10323. Nature. 2011. PMID: 21753754 Free PMC article.

3

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.

Shcheglovitov A, Shcheglovitova O, Yazawa M, Portmann T, Shu R, Sebastiano V, Krawisz A, Froehlich W, Bernstein JA, Hallmayer JF, Dolmetsch RE. Shcheglovitov A, et al. Among authors: portmann t. Nature. 2013 Nov 14;503(7475):267-71. doi: 10.1038/nature12618. Epub 2013 Oct 16. Nature. 2013. PMID: 24132240 Free PMC article.

4

Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome.

Panagiotakos G, Haveles C, Arjun A, Petrova R, Rana A, Portmann T, Paşca SP, Palmer TD, Dolmetsch RE. Panagiotakos G, et al. Among authors: portmann t. Elife. 2019 Dec 23;8:e51037. doi: 10.7554/eLife.51037. Elife. 2019. PMID: 31868578 Free PMC article.

5

A promoter in the coding region of the calcium channel gene CACNA1C generates the transcription factor CCAT.

Gomez-Ospina N, Panagiotakos G, Portmann T, Pasca SP, Rabah D, Budzillo A, Kinet JP, Dolmetsch RE. Gomez-Ospina N, et al. Among authors: portmann t. PLoS One. 2013 Apr 16;8(4):e60526. doi: 10.1371/journal.pone.0060526. Print 2013. PLoS One. 2013. PMID: 23613729 Free PMC article.

6

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.

Sun Y, Paşca SP, Portmann T, Goold C, Worringer KA, Guan W, Chan KC, Gai H, Vogt D, Chen YJ, Mao R, Chan K, Rubenstein JL, Madison DV, Hallmayer J, Froehlich-Santino WM, Bernstein JA, Dolmetsch RE. Sun Y, et al. Among authors: portmann t. Elife. 2016 Jul 26;5:e13073. doi: 10.7554/eLife.13073. Elife. 2016. PMID: 27458797 Free PMC article.

7

16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.

Yang M, Mahrt EJ, Lewis F, Foley G, Portmann T, Dolmetsch RE, Portfors CV, Crawley JN. Yang M, et al. Among authors: portmann t. Autism Res. 2015 Oct;8(5):507-21. doi: 10.1002/aur.1465. Epub 2015 Feb 7. Autism Res. 2015. PMID: 25663600 Free PMC article.

8

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.

Portmann T, Yang M, Mao R, Panagiotakos G, Ellegood J, Dolen G, Bader PL, Grueter BA, Goold C, Fisher E, Clifford K, Rengarajan P, Kalikhman D, Loureiro D, Saw NL, Zhengqui Z, Miller MA, Lerch JP, Henkelman M, Shamloo M, Malenka RC, Crawley JN, Dolmetsch RE. Portmann T, et al. Cell Rep. 2014 May 22;7(4):1077-1092. doi: 10.1016/j.celrep.2014.03.036. Epub 2014 May 1. Cell Rep. 2014. PMID: 24794428 Free PMC article.

9

A developmental switch in the response of DRG neurons to ETS transcription factor signaling.

Hippenmeyer S, Vrieseling E, Sigrist M, Portmann T, Laengle C, Ladle DR, Arber S. Hippenmeyer S, et al. Among authors: portmann t. PLoS Biol. 2005 May;3(5):e159. doi: 10.1371/journal.pbio.0030159. Epub 2005 Apr 26. PLoS Biol. 2005. PMID: 15836427 Free PMC article.

10

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. Ho H, et al. Among authors: portmann t. Front Cell Neurosci. 2018 Jun 15;12:159. doi: 10.3389/fncel.2018.00159. eCollection 2018. Front Cell Neurosci. 2018. PMID: 29970990 Free PMC article.

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