Kaindl AM - Search Results

1

Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease.

Nikolaus M, Tietze A, Schweizer L, Kaindl AM, Stenzel W, Schuelke M, Knierim E. Nikolaus M, et al. Among authors: kaindl am. Brain Dev. 2019 Nov;41(10):901-904. doi: 10.1016/j.braindev.2019.07.002. Epub 2019 Jul 22. Brain Dev. 2019. PMID: 31345444

2

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Uhlenberg B, et al. Among authors: kaindl am. Am J Hum Genet. 2004 Aug;75(2):251-60. doi: 10.1086/422763. Epub 2004 Jun 10. Am J Hum Genet. 2004. PMID: 15192806 Free PMC article.

3

Spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Schuelke M, Hübner C, von Au K. Kaindl AM, et al. J Child Neurol. 2008 Feb;23(2):199-204. doi: 10.1177/0883073807310989. J Child Neurol. 2008. PMID: 18263757

4

[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].

Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Gressens P, Schuelke M, Hubner C, von Au K. Kaindl AM, et al. Arch Pediatr. 2008 Oct;15(10):1568-72. doi: 10.1016/j.arcped.2008.07.014. Epub 2008 Sep 19. Arch Pediatr. 2008. PMID: 18804971 Review. French.

5

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.

Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Gräf R, van den Heuvel L, Ropers HH, Wienker TF, Hübner C, Langer T, Kaindl AM. Hartmann B, et al. Among authors: kaindl am. Elife. 2016 Aug 6;5:e16078. doi: 10.7554/eLife.16078. Elife. 2016. PMID: 27495975 Free PMC article.

6

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Schottmann G, Picker-Minh S, Schwarz JM, Gill E, Rodenburg RJT, Stenzel W, Kaindl AM, Schuelke M. Schottmann G, et al. Among authors: kaindl am. Mitochondrion. 2017 Nov;37:46-54. doi: 10.1016/j.mito.2017.06.007. Epub 2017 Jul 4. Mitochondrion. 2017. PMID: 28687512

7

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.

Blaesius K, Abbasi AA, Tahir TH, Tietze A, Picker-Minh S, Ali G, Farooq S, Hu H, Latif Z, Khan MN, Kaindl A. Blaesius K, et al. Am J Med Genet A. 2018 Nov;176(11):2517-2521. doi: 10.1002/ajmg.a.38631. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289604 No abstract available.

8

Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis.

Bartels F, Krohn S, Nikolaus M, Johannsen J, Wickström R, Schimmel M, Häusler M, Berger A, Breu M, Blankenburg M, Stoffels J, Hendricks O, Bernert G, Kurlemann G, Knierim E, Kaindl A, Rostásy K, Finke C. Bartels F, et al. Ann Neurol. 2020 Jul;88(1):148-159. doi: 10.1002/ana.25754. Epub 2020 May 29. Ann Neurol. 2020. PMID: 32314416

9

Presence of anti-neuronal antibodies in children with neurological disorders beyond encephalitis.

Nikolaus M, Meisel C, Kreye J, Prüss H, Reindl M, Kaindl AM, Schuelke M, Knierim E. Nikolaus M, et al. Among authors: kaindl am. Eur J Paediatr Neurol. 2020 Sep;28:159-166. doi: 10.1016/j.ejpn.2020.07.004. Epub 2020 Jul 30. Eur J Paediatr Neurol. 2020. PMID: 32807683

10

Clinical Outcome of Children With Corpus Callosum Agenesis.

Raile V, Herz NA, Promnitz G, Schneider J, Tietze A, Kaindl AM. Raile V, et al. Among authors: kaindl am. Pediatr Neurol. 2020 Nov;112:47-52. doi: 10.1016/j.pediatrneurol.2020.07.013. Epub 2020 Aug 11. Pediatr Neurol. 2020. PMID: 32911263

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