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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
2005 1
2006 3
2007 1
2008 1
2009 1
2010 8
2011 10
2012 8
2013 10
2014 7
2015 5
2016 14
2017 12
2018 18
2019 15
2020 10
2021 14
2022 5
2023 3
2024 2

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129 results

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Page 1
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
Becker LL, Dafsari HS, Schallner J, Abdin D, Seifert M, Petit F, Smol T, Bok L, Rodan L, Krapels I, Spranger S, Weschke B, Johnson K, Straub V, Kaindl AM, Di Donato N, von der Hagen M, Cirak S. Becker LL, et al. Among authors: cirak s. J Hum Genet. 2020 Nov;65(11):1003-1017. doi: 10.1038/s10038-020-0803-1. Epub 2020 Aug 12. J Hum Genet. 2020. PMID: 32788638 Free PMC article.
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R… See abstract for full author list ➔ Klionsky DJ, et al. Among authors: cirak s. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8. Autophagy. 2021. PMID: 33634751 Free PMC article.
Acanthocytosis and HyperCKemia.
Yiş U, Becker K, Yılmaz Ş, Çırak S. Yiş U, et al. Among authors: cirak s. Turk J Haematol. 2018 Nov 13;35(4):296-297. doi: 10.4274/tjh.2017.0142. Epub 2017 May 17. Turk J Haematol. 2018. PMID: 28515033 Free PMC article. No abstract available.
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Kölbel H, Müller C, Hannibal I, Olgemöller B, Schara U, von Moers A, Trollmann R, Johannssen J, Ziegler A, Cirak S, Hahn A, von der Hagen M, Weiss C, Schreiber G, Flotats-Bastardas M, Hartmann H, Illsinger S, Pechmann A, Horber V, Kirschner J, Köhler C, Winter B, Friese J, Vill K. Müller-Felber W, et al. Among authors: cirak s. J Neuromuscul Dis. 2023;10(1):55-65. doi: 10.3233/JND-221577. J Neuromuscul Dis. 2023. PMID: 36463459 Free PMC article.
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A. Thiel M, et al. Among authors: cirak s. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):806-815. doi: 10.1136/jnnp-2022-330261. Epub 2023 May 24. J Neurol Neurosurg Psychiatry. 2023. PMID: 37225406
Molecular autopsy in maternal-fetal medicine.
Shamseldin HE, Kurdi W, Almusafri F, Alnemer M, Alkaff A, Babay Z, Alhashem A, Tulbah M, Alsahan N, Khan R, Sallout B, Al Mardawi E, Seidahmed MZ, Meriki N, Alsaber Y, Qari A, Khalifa O, Eyaid W, Rahbeeni Z, Kurdi A, Hashem M, Alshidi T, Al-Obeid E, Abdulwahab F, Ibrahim N, Ewida N, El-Akouri K, Al Mulla M, Ben-Omran T, Pergande M, Cirak S, Al Tala S, Shaheen R, Faqeih E, Alkuraya FS. Shamseldin HE, et al. Among authors: cirak s. Genet Med. 2018 Apr;20(4):420-427. doi: 10.1038/gim.2017.111. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28749478 Free article.
A boy with neck weakness.
Yiş U, Becker K, Çırak S. Yiş U, et al. Among authors: cirak s. Neuromuscul Disord. 2018 Mar;28(3):236-237. doi: 10.1016/j.nmd.2017.11.016. Epub 2017 Dec 5. Neuromuscul Disord. 2018. PMID: 29339009 No abstract available.
PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
Bamborschke D, Kreutzer M, Koy A, Koerber F, Lucas N, Huenseler C, Herkenrath P, Lee-Kirsch MA, Cirak S. Bamborschke D, et al. Among authors: cirak s. Brain Dev. 2021 Feb;43(2):320-324. doi: 10.1016/j.braindev.2020.10.005. Epub 2020 Nov 4. Brain Dev. 2021. PMID: 33158637
129 results