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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. Figueroa KP, et al. Among authors: spielmann m. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01719-5. Online ahead of print. Nat Genet. 2024. PMID: 38684900
[Differences in sexual development-S2k guideline update].
Krege S, Eckoldt F, Richter-Unruh A; Leitliniengruppe. Krege S, et al. Urologie. 2024 May;63(5):448-455. doi: 10.1007/s00120-024-02326-2. Epub 2024 Apr 4. Urologie. 2024. PMID: 38573501 Review. German.
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Balachandran S, Prada-Medina CA, Mensah MA, Glaser J, Kakar N, Nagel I, Pozojevic J, Audain E, Hitz MP, Kircher M, Sreenivasan VKA, Spielmann M. Balachandran S, et al. Among authors: spielmann m. Am J Hum Genet. 2024 Mar 7;111(3):618. doi: 10.1016/j.ajhg.2024.01.009. Am J Hum Genet. 2024. PMID: 38458167 Free PMC article. No abstract available.
A single-cell time-lapse of mouse prenatal development from gastrula to birth.
Qiu C, Martin BK, Welsh IC, Daza RM, Le TM, Huang X, Nichols EK, Taylor ML, Fulton O, O'Day DR, Gomes AR, Ilcisin S, Srivatsan S, Deng X, Disteche CM, Noble WS, Hamazaki N, Moens CB, Kimelman D, Cao J, Schier AF, Spielmann M, Murray SA, Trapnell C, Shendure J. Qiu C, et al. Among authors: spielmann m. Nature. 2024 Feb;626(8001):1084-1093. doi: 10.1038/s41586-024-07069-w. Epub 2024 Feb 14. Nature. 2024. PMID: 38355799 Free PMC article.
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Balachandran S, Prada-Medina CA, Mensah MA, Kakar N, Nagel I, Pozojevic J, Audain E, Hitz MP, Kircher M, Sreenivasan VKA, Spielmann M. Balachandran S, et al. Among authors: spielmann m. Am J Hum Genet. 2024 Feb 1;111(2):338-349. doi: 10.1016/j.ajhg.2023.12.011. Epub 2024 Jan 15. Am J Hum Genet. 2024. PMID: 38228144 Free PMC article.
Recommandations francophones pour la pratique clinique concernant la prise en charge des cancers du sein de Saint-Paul-de-Vence 2022-2023.
Gligorov J, Benderra MA, Barthere X, de Forceville L, Antoine EC, Cottu PH, Delaloge S, Pierga JY, Belkacemi Y, Houvenaegel G, Pujol P, Rivera S, Spielmann M, Penault-Llorca F, Namer M; et l'ensemble des experts des votes des RPC Saint-Paul 2022-2023. Gligorov J, et al. Among authors: spielmann m. Bull Cancer. 2023 Nov;110(10S):10S1-10S43. doi: 10.1016/S0007-4551(23)00473-3. Bull Cancer. 2023. PMID: 38061827
315 results