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Page 1
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
Bartesaghi L, Wang Y, Fontanet P, Wanderoy S, Berger F, Wu H, Akkuratova N, Bouçanova F, Médard JJ, Petitpré C, Landy MA, Zhang MD, Harrer P, Stendel C, Stucka R, Dusl M, Kastriti ME, Croci L, Lai HC, Consalez GG, Pattyn A, Ernfors P, Senderek J, Adameyko I, Lallemend F, Hadjab S, Chrast R. Bartesaghi L, et al. Among authors: stendel c. Cell Rep. 2019 Mar 26;26(13):3484-3492.e4. doi: 10.1016/j.celrep.2019.02.098. Cell Rep. 2019. PMID: 30917305 Free PMC article.
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset.
Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M. Kern J, et al. Among authors: stendel c. Neurology. 2024 Jan 9;102(1):e207898. doi: 10.1212/WNL.0000000000207898. Epub 2023 Dec 12. Neurology. 2024. PMID: 38165373 Free PMC article.
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.
Smeitink J, van Es J, Bosman B, Janssen MCH, Klopstock T, Gorman G, Vissing J, Ruiterkamp G, Edgar CJ, Abbink EJ, van Maanen R, Pogoryelova O, Stendel C, Bischoff A, Karin I, Munshi M, Kümmel A, Burgert L, Verhaak C, Renkema H. Smeitink J, et al. Among authors: stendel c. Brain. 2024 Nov 6:awae277. doi: 10.1093/brain/awae277. Online ahead of print. Brain. 2024. PMID: 39501914
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.
Oender D, Faber J, Wilke C, Schaprian T, Lakghomi A, Mengel D, Schöls L, Traschütz A, Fleszar Z, Dufke C, Vielhaber S, Machts J, Giordano I, Grobe-Einsler M, Klopstock T, Stendel C, Boesch S, Nachbauer W, Timmann-Braun D, Thieme AG, Kamm C, Dudesek A, Tallaksen C, Wedding I, Filla A, Schmid M, Synofzik M, Klockgether T. Oender D, et al. Among authors: stendel c. Mov Disord. 2023 Apr;38(4):654-664. doi: 10.1002/mds.29324. Epub 2023 Jan 25. Mov Disord. 2023. PMID: 36695111
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R. Arnaud E, et al. Among authors: stendel c. Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17528-33. doi: 10.1073/pnas.0905523106. Epub 2009 Sep 29. Proc Natl Acad Sci U S A. 2009. PMID: 19805030 Free PMC article.
Transcriptional regulator PRDM12 is essential for human pain perception.
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Chen YC, et al. Among authors: stendel c. Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005867 Free PMC article.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R. Azzedine H, et al. Among authors: stendel c. Hum Mol Genet. 2013 Oct 15;22(20):4224-32. doi: 10.1093/hmg/ddt274. Epub 2013 Jun 17. Hum Mol Genet. 2013. PMID: 23777631 Free PMC article.
43 results