Gill E - Search Results

1

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: gill e. Mitochondrion. 2017 Nov;37:46-54. doi: 10.1016/j.mito.2017.06.007. Epub 2017 Jul 4. Mitochondrion. 2017. PMID: 28687512

2

Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

Knierim E, Seelow D, Gill E, von Moers A, Schuelke M. Knierim E, et al. Among authors: gill e. Mitochondrion. 2015 Jan;20:1-6. doi: 10.1016/j.mito.2014.10.007. Epub 2014 Nov 4. Mitochondrion. 2015. PMID: 25446393

3

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Schottmann G, et al. Among authors: gill e. Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568292

4

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

Rajab A, Schuelke M, Gill E, Zwirner A, Seifert F, Morales Gonzalez S, Knierim E. Rajab A, et al. Among authors: gill e. J Med Genet. 2015 Sep;52(9):607-11. doi: 10.1136/jmedgenet-2015-103083. Epub 2015 Jun 5. J Med Genet. 2015. PMID: 26048982

5

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Schottmann G, Seelow D, Seifert F, Morales-Gonzalez S, Gill E, von Au K, von Moers A, Stenzel W, Schuelke M. Schottmann G, et al. Among authors: gill e. Neurol Genet. 2015 Oct 22;1(4):e32. doi: 10.1212/NXG.0000000000000032. eCollection 2015 Dec. Neurol Genet. 2015. PMID: 27066569 Free PMC article.

6

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Schottmann G, Sarpong A, Lorenz C, Weinhold N, Gill E, Teschner L, Ferdinandusse S, Wanders RJ, Prigione A, Schuelke M. Schottmann G, et al. Among authors: gill e. Mov Disord. 2016 Nov;31(11):1733-1739. doi: 10.1002/mds.26704. Epub 2016 Jul 12. Mov Disord. 2016. PMID: 27400804

7

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

Knierim E, Gill E, Seifert F, Morales-Gonzalez S, Unudurthi SD, Hund TJ, Stenzel W, Schuelke M. Knierim E, et al. Among authors: gill e. Hum Genet. 2017 Jul;136(7):903-910. doi: 10.1007/s00439-017-1814-7. Epub 2017 May 24. Hum Genet. 2017. PMID: 28540413

8

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

von Renesse A, Morales-Gonzalez S, Gill E, Salomons GS, Stenzel W, Schuelke M. von Renesse A, et al. Among authors: gill e. JIMD Rep. 2019;43:27-35. doi: 10.1007/8904_2018_93. Epub 2018 Apr 14. JIMD Rep. 2019. PMID: 29654543 Free PMC article.

9

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.

von Renesse A, Petkova MV, Lützkendorf S, Heinemeyer J, Gill E, Hübner C, von Moers A, Stenzel W, Schuelke M. von Renesse A, et al. Among authors: gill e. J Med Genet. 2014 Apr;51(4):275-82. doi: 10.1136/jmedgenet-2013-102236. Epub 2014 Feb 20. J Med Genet. 2014. PMID: 24556084

10

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Knierim E, et al. Among authors: gill e. Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25. Am J Hum Genet. 2016. PMID: 26924529 Free PMC article.

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

454 results

Search Page

Filters