Neubauer BA - Search Results

1

Draft Genome Sequence of Lactobacillus delbrueckii Strain #22 Isolated from a Patient with Short Bowel Syndrome and Previous d-Lactic Acidosis and Encephalopathy.

Domann E, Fischer F, Glowatzki F, Fritzenwanker M, Hain T, Zechel-Gran S, Giffhorn-Katz S, Neubauer BA. Domann E, et al. Among authors: neubauer ba. Genome Announc. 2016 Jul 28;4(4):e00747-16. doi: 10.1128/genomeA.00747-16. Genome Announc. 2016. PMID: 27469967 Free PMC article.

2

Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.

Schänzer A, Döring B, Ondrouschek M, Goos S, Garvalov BK, Geyer J, Acker T, Neubauer B, Hahn A. Schänzer A, et al. Brain Pathol. 2014 Apr;24(3):270-9. doi: 10.1111/bpa.12117. Epub 2014 Jan 29. Brain Pathol. 2014. PMID: 24372704 Free PMC article.

3

Quantification of muscle pathology in infantile Pompe disease.

Schänzer A, Kaiser AK, Mühlfeld C, Kulessa M, Paulus W, von Pein H, Rohrbach M, Viergutz L, Mengel E, Marquardt T, Neubauer B, Acker T, Hahn A. Schänzer A, et al. Neuromuscul Disord. 2017 Feb;27(2):141-152. doi: 10.1016/j.nmd.2016.10.010. Epub 2016 Nov 3. Neuromuscul Disord. 2017. PMID: 27927596

4

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.

Weber A, Köhler A, Hahn A, Neubauer B, Müller U. Weber A, et al. Neurogenetics. 2013 Nov;14(3-4):251-3. doi: 10.1007/s10048-013-0376-7. Epub 2013 Oct 8. Neurogenetics. 2013. PMID: 24100940

5

Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.

Schänzer A, Rau I, Kress W, Köhler A, Neubauer B, Hahn A. Schänzer A, et al. Klin Padiatr. 2012 Jul;224(4):256-8. doi: 10.1055/s-0032-1304626. Epub 2012 Apr 27. Klin Padiatr. 2012. PMID: 22549471

6

Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.

Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Müller U, Hahn A. Zirn B, et al. Am J Med Genet A. 2008 Apr 15;146A(8):1049-54. doi: 10.1002/ajmg.a.32259. Am J Med Genet A. 2008. PMID: 18348272

7

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype.

Zirn B, Hempel M, Hahn A, Neubauer B, Wagenstaller J, Rivera-Bruguès N, Strom TM, Köhler A. Zirn B, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2960-5. doi: 10.1002/ajmg.a.32536. Am J Med Genet A. 2008. PMID: 18924226 No abstract available.

8

Gastrointestinal Symptoms in Children With Life-Limiting Conditions Receiving Palliative Home Care.

Hauch H, Kriwy P, Hahn A, Dettmeyer R, Zimmer KP, Neubauer B, Brill S, Vaillant V, de Laffolie J, Schaefer K, Tretiakowa I, Hach M, Sibelius U, Berthold D. Hauch H, et al. Front Pediatr. 2021 Mar 31;9:654531. doi: 10.3389/fped.2021.654531. eCollection 2021. Front Pediatr. 2021. PMID: 33869119 Free PMC article.

9

Reduced platelet aggregation in a boy with scurvy.

Dey F, Möller A, Kemkes-Matthes B, Wilbrand JF, Krombach GA, Neubauer B, Hahn A. Dey F, et al. Klin Padiatr. 2012 Nov;224(7):448-52. doi: 10.1055/s-0032-1323835. Epub 2012 Oct 15. Klin Padiatr. 2012. PMID: 23070864

10

Hemiconvulsion-hemiplegia-epilepsy syndrome with initially normal magnetic resonance imaging.

Welcker S, Grams A, Gizewski E, Neubauer B, Hahn A. Welcker S, et al. Klin Padiatr. 2013 Mar;225(2):86-87. doi: 10.1055/s-0032-1323822. Epub 2012 Nov 9. Klin Padiatr. 2013. PMID: 23143783 No abstract available.

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