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1997 1
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47 results

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Page 1
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valuvullah Z, Weiß C, Möller GM, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans N, Jungbluth H, Dafsari HS. Möller B, et al. Among authors: von kleist retzow jc. Brain. 2024 Jun 8:awae183. doi: 10.1093/brain/awae183. Online ahead of print. Brain. 2024. PMID: 38848546
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
[Alice in the digital wonderland-pediatric teaching during the COVID-19 pandemic].
Häusler M, Bosse HM, Fischbach T, Graf N, von Kleist-Retzow JC, Kreuder J. Häusler M, et al. Among authors: von kleist retzow jc. Monatsschr Kinderheilkd. 2021;169(2):151-158. doi: 10.1007/s00112-020-01076-7. Epub 2020 Dec 2. Monatsschr Kinderheilkd. 2021. PMID: 33281226 Free PMC article. Review. German.
Bezafibrate Reduces Elevated Hepatic Fumarate in Insulin-Deficient Mice.
Franko A, Irmler M, Prehn C, Heinzmann SS, Schmitt-Kopplin P, Adamski J, Beckers J, von Kleist-Retzow JC, Wiesner R, Häring HU, Heni M, Birkenfeld AL, de Angelis MH. Franko A, et al. Among authors: von kleist retzow jc. Biomedicines. 2022 Mar 6;10(3):616. doi: 10.3390/biomedicines10030616. Biomedicines. 2022. PMID: 35327418 Free PMC article.
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ; Project Cure SMA Investigator's Network. Krosschell KJ, et al. Among authors: von kleist retzow jc. Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18. Muscle Nerve. 2018. PMID: 28833236 Clinical Trial.
Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging.
Baris OR, Ederer S, Neuhaus JF, von Kleist-Retzow JC, Wunderlich CM, Pal M, Wunderlich FT, Peeva V, Zsurka G, Kunz WS, Hickethier T, Bunck AC, Stöckigt F, Schrickel JW, Wiesner RJ. Baris OR, et al. Among authors: von kleist retzow jc. Cell Metab. 2015 May 5;21(5):667-77. doi: 10.1016/j.cmet.2015.04.005. Cell Metab. 2015. PMID: 25955204 Free article.
47 results