Seitz A - Search Results

1

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Evers C, Seitz A, Assmann B, Opladen T, Karch S, Hinderhofer K, Granzow M, Paramasivam N, Eils R, Diessl N, Bartram CR, Moog U. Evers C, et al. Among authors: seitz a. Am J Med Genet A. 2017 Jul;173(7):1878-1886. doi: 10.1002/ajmg.a.38252. Epub 2017 May 10. Am J Med Genet A. 2017. PMID: 28489334

2

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsässer M, Pinkert S, Schlesner M, Bartram CR, Moog U. Evers C, et al. Among authors: seitz a. Am J Med Genet A. 2016 Jun;170(6):1502-9. doi: 10.1002/ajmg.a.37632. Epub 2016 Mar 26. Am J Med Genet A. 2016. PMID: 27016154

3

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.

Ott T, Kaufmann L, Granzow M, Hinderhofer K, Bartram CR, Theiß S, Seitz A, Paramasivam N, Schulz A, Moog U, Blum M, Evers CM. Ott T, et al. Among authors: seitz a. Front Physiol. 2019 Feb 25;10:134. doi: 10.3389/fphys.2019.00134. eCollection 2019. Front Physiol. 2019. PMID: 30858804 Free PMC article.

4

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.

Harting I, Karch S, Moog U, Seitz A, Pouwels PJW, Wolf NI. Harting I, et al. Among authors: seitz a. AJNR Am J Neuroradiol. 2019 May;40(5):903-907. doi: 10.3174/ajnr.A6051. Epub 2019 May 2. AJNR Am J Neuroradiol. 2019. PMID: 31048294 Free PMC article.

5

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Harting I, Neumaier-Probst E, Seitz A, Maier EM, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy NP, Hoffmann GF, Garbade SF, Kölker S. Harting I, et al. Among authors: seitz a. Brain. 2009 Jul;132(Pt 7):1764-82. doi: 10.1093/brain/awp112. Epub 2009 May 11. Brain. 2009. PMID: 19433437

6

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Boy N, Heringer J, Brackmann R, Bodamer O, Seitz A, Kölker S, Harting I. Boy N, et al. Among authors: seitz a. Orphanet J Rare Dis. 2017 Apr 24;12(1):77. doi: 10.1186/s13023-017-0612-6. Orphanet J Rare Dis. 2017. PMID: 28438223 Free PMC article.

7

Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case Report.

Zielonka M, Braun K, Bengel A, Seitz A, Kölker S, Boy N. Zielonka M, et al. Among authors: seitz a. J Child Neurol. 2015 Jul;30(8):1065-9. doi: 10.1177/0883073814541479. Epub 2014 Jul 17. J Child Neurol. 2015. PMID: 25038128

8

(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.

Harting I, Boy N, Heringer J, Seitz A, Bendszus M, Pouwels PJ, Kölker S. Harting I, et al. Among authors: seitz a. J Inherit Metab Dis. 2015 Sep;38(5):829-38. doi: 10.1007/s10545-015-9826-8. Epub 2015 Apr 10. J Inherit Metab Dis. 2015. PMID: 25860816

9

Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1.

Boy N, Garbade SF, Heringer J, Seitz A, Kölker S, Harting I. Boy N, et al. Among authors: seitz a. J Inherit Metab Dis. 2018 May 2. doi: 10.1007/s10545-018-0187-y. Online ahead of print. J Inherit Metab Dis. 2018. PMID: 29721918

10

Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1.

Boy N, Garbade SF, Heringer J, Seitz A, Kölker S, Harting I. Boy N, et al. Among authors: seitz a. J Inherit Metab Dis. 2019 Jan;42(1):117-127. doi: 10.1002/jimd.12033. J Inherit Metab Dis. 2019. PMID: 30740735

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

705 results

Search Page

Filters