Neesen J - Search Results

1

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.

Frohne A, Koenighofer M, Liu DT, Laccone F, Neesen J, Gstoettner W, Schoefer C, Lucas T, Frei K, Parzefall T. Frohne A, et al. Among authors: neesen j. Otol Neurotol. 2021 Jul 1;42(6):e648-e657. doi: 10.1097/MAO.0000000000003076. Otol Neurotol. 2021. PMID: 33710140

2

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.

Parzefall T, Frohne A, Koenighofer M, Neesen J, Laccone F, Eckl-Dorna J, Waters JJ, Schreiner M, Amr SS, Ashton E, Schoefer C, Gstœttner W, Frei K, Lucas T. Parzefall T, et al. Among authors: neesen j. Front Cell Neurosci. 2020 Nov 12;14:585669. doi: 10.3389/fncel.2020.585669. eCollection 2020. Front Cell Neurosci. 2020. PMID: 33281559 Free PMC article.

3

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.

Laccone F, Hannibal MC, Neesen J, Grisold W, Chance PF, Rehder H. Laccone F, et al. Among authors: neesen j. Clin Genet. 2008 Sep;74(3):279-83. doi: 10.1111/j.1399-0004.2008.01022.x. Epub 2008 May 19. Clin Genet. 2008. PMID: 18492087

4

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

Rehder H, Laccone F, Kircher SG, Schild RL, Rapp C, Bald R, Schulze B, Behunova J, Neesen J, Schoner K. Rehder H, et al. Among authors: neesen j. Am J Med Genet A. 2018 Jul;176(7):1559-1568. doi: 10.1002/ajmg.a.38828. Epub 2018 May 23. Am J Med Genet A. 2018. PMID: 29797497 Free PMC article.

5

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.

Schoner K, Kohlhase J, Müller AM, Schramm T, Plassmann M, Schmitz R, Neesen J, Wieacker P, Rehder H. Schoner K, et al. Among authors: neesen j. Prenat Diagn. 2013 Jan;33(1):75-80. doi: 10.1002/pd.4012. Epub 2012 Nov 13. Prenat Diagn. 2013. PMID: 23161355

6

Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity.

Rehder H, Schoner K, Kluge B, Louwen F, Schwinger E, Neesen J. Rehder H, et al. Among authors: neesen j. Prenat Diagn. 2012 Feb;32(2):173-9. doi: 10.1002/pd.2928. Prenat Diagn. 2012. PMID: 22418962

7

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Shoukier M, Neesen J, Sauter SM, Argyriou L, Doerwald N, Pantakani DV, Mannan AU. Shoukier M, et al. Among authors: neesen j. Eur J Hum Genet. 2009 Feb;17(2):187-94. doi: 10.1038/ejhg.2008.147. Epub 2008 Aug 13. Eur J Hum Genet. 2009. PMID: 18701882 Free PMC article.

8

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein.

Mannan AU, Boehm J, Sauter SM, Rauber A, Byrne PC, Neesen J, Engel W. Mannan AU, et al. Among authors: neesen j. Neurogenetics. 2006 May;7(2):93-103. doi: 10.1007/s10048-006-0034-4. Epub 2006 Apr 7. Neurogenetics. 2006. PMID: 16602018

9

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.

Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, Neesen J, Engel W. Mannan AU, et al. Among authors: neesen j. Am J Hum Genet. 2006 Aug;79(2):351-7. doi: 10.1086/504927. Epub 2006 Jun 1. Am J Hum Genet. 2006. PMID: 16826525 Free PMC article.

10

The murine Dnali1 gene encodes a flagellar protein that interacts with the cytoplasmic dynein heavy chain 1.

Rashid S, Breckle R, Hupe M, Geisler S, Doerwald N, Neesen J. Rashid S, et al. Among authors: neesen j. Mol Reprod Dev. 2006 Jun;73(6):784-94. doi: 10.1002/mrd.20475. Mol Reprod Dev. 2006. PMID: 16496424

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