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152 results

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Page 1
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.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. Among authors: cirak s. JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492. JAMA Pediatr. 2024. PMID: 38587854 Clinical Trial.
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.
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Among authors: cirak s. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE Study Group. Pechmann A, et al. J Neuromuscul Dis. 2023;10(1):29-40. doi: 10.3233/JND-221600. J Neuromuscul Dis. 2023. PMID: 36565133 Free PMC article.
The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: cirak s. Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Genet Med. 2020. PMID: 31680123 Free article.
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.
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
152 results