Neubauer D - Search Results

1

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D. Slaats GG, et al. Among authors: neubauer d. J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21. J Med Genet. 2016. PMID: 26490104 Free PMC article.

2

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss.

Višnjar T, Maver A, Writzl K, Maloku O, Bergant G, Jaklič H, Neubauer D, Fogolari F, Pečarič Meglič N, Peterlin B. Višnjar T, et al. Among authors: neubauer d. Neurol Genet. 2022 May 3;8(3):e677. doi: 10.1212/NXG.0000000000000677. eCollection 2022 Jun. Neurol Genet. 2022. PMID: 35518571 Free PMC article.

3

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.

Rogac M, Neubauer D, Leonardis L, Pecaric N, Meznaric M, Maver A, Sperl W, Garavaglia BM, Lamantea E, Peterlin B. Rogac M, et al. Among authors: neubauer d. Balkan J Med Genet. 2022 Jun 5;24(2):5-14. doi: 10.2478/bjmg-2021-0019. eCollection 2021 Nov. Balkan J Med Genet. 2022. PMID: 36249517 Free PMC article.

4

Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.

Stražišar BG, Neubauer D, Paro Panjan D, Writzl K. Stražišar BG, et al. Among authors: neubauer d. Eur J Paediatr Neurol. 2015 Mar;19(2):251-6. doi: 10.1016/j.ejpn.2014.12.011. Epub 2014 Dec 20. Eur J Paediatr Neurol. 2015. PMID: 25557349

5

A case of Zellweger syndrome with extensive MRI abnormalities and unusual EEG findings.

Panjan DP, Meglic NP, Neubauer D. Panjan DP, et al. Among authors: neubauer d. Clin Electroencephalogr. 2001 Jan;32(1):28-31. doi: 10.1177/155005940103200108. Clin Electroencephalogr. 2001. PMID: 11202139

6

Congenital hypotonia: is there an algorithm?

Paro-Panjan D, Neubauer D. Paro-Panjan D, et al. Among authors: neubauer d. J Child Neurol. 2004 Jun;19(6):439-42. doi: 10.1177/088307380401900608. J Child Neurol. 2004. PMID: 15446393

7

Methods for electroencephalography trace recording in children younger than age 2 years.

Neubauer D, Kolnik L. Neubauer D, et al. Pediatr Neurol. 2013 Dec;49(6):e15. doi: 10.1016/j.pediatrneurol.2013.06.018. Pediatr Neurol. 2013. PMID: 24267158 No abstract available.

8

Levels of metals in the blood and specific porphyrins in the urine in children with autism spectrum disorders.

Macedoni-Lukšič M, Gosar D, Bjørklund G, Oražem J, Kodrič J, Lešnik-Musek P, Zupančič M, France-Štiglic A, Sešek-Briški A, Neubauer D, Osredkar J. Macedoni-Lukšič M, et al. Among authors: neubauer d. Biol Trace Elem Res. 2015 Feb;163(1-2):2-10. doi: 10.1007/s12011-014-0121-6. Epub 2014 Sep 19. Biol Trace Elem Res. 2015. PMID: 25234471 Clinical Trial.

9

Functional outcome of children with mitochondrial diseases.

Rogac M, Meznaric M, Zeviani M, Sperl W, Neubauer D. Rogac M, et al. Among authors: neubauer d. Pediatr Neurol. 2011 May;44(5):340-6. doi: 10.1016/j.pediatrneurol.2010.12.004. Pediatr Neurol. 2011. PMID: 21481741

10

Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia.

Troha Gergeli A, Neubauer D, Golli T, Butenko T, Loboda T, Maver A, Osredkar D. Troha Gergeli A, et al. Among authors: neubauer d. Eur J Paediatr Neurol. 2020 May;26:34-38. doi: 10.1016/j.ejpn.2020.02.002. Epub 2020 Feb 11. Eur J Paediatr Neurol. 2020. PMID: 32070632

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