Esther Gill
Overview
Explore the profile of Esther Gill including associated specialties, affiliations and a list of published articles.
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Articles
14
Citations
196
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Recent Articles
1.
Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschutter A, et al.
Ann Clin Transl Neurol
. 2018 Nov;
5(11):1385-1393.
PMID: 30480032
Objective: The neuronal ceroid lipofuscinoses (NCL) are genetic degenerative disorders of brain and retina. NCL with juvenile onset (JNCL) is genetically heterogeneous but most frequently caused by mutations of CLN3....
2.
von Renesse A, Morales-Gonzalez S, Gill E, Salomons G, Stenzel W, Schuelke M
JIMD Rep
. 2018 Apr;
43:27-35.
PMID: 29654543
Background: Mutations in SLC25A4 (syn. ANT1, Adenine nucleotide translocase, type 1) are known to cause either autosomal dominant progressive external ophthalmoplegia (adPEO) or recessive mitochondrial myopathy, hypertrophic cardiomyopathy, and lactic...
3.
Schottmann G, Picker-Minh S, Schwarz J, Gill E, Rodenburg R, Stenzel W, et al.
Mitochondrion
. 2017 Jul;
37:46-54.
PMID: 28687512
Recessive mutations in EXOSC3, encoding a subunit of the human RNA exosome complex, cause pontocerebellar hypoplasia type 1b (PCH1B). We report a boy with severe muscular hypotonia, psychomotor retardation, progressive...
4.
Knierim E, Gill E, Seifert F, Morales-Gonzalez S, Unudurthi S, Hund T, et al.
Hum Genet
. 2017 May;
136(7):903-910.
PMID: 28540413
Congenital myopathies are a heterogeneous group of muscle disorders that are often genetically determined. Here, we investigated a boy with congenital myopathy, deafness, and neuropathy from a consanguineous Kurdish family...
5.
Hu H, Hubner C, Lukacs Z, Musante L, Gill E, Wienker T, et al.
Eur J Hum Genet
. 2016 Nov;
25(2):253-256.
PMID: 27827379
Klüver-Bucy syndrome (KBS) comprises a set of neurobehavioral symptoms with psychic blindness, hypersexuality, disinhibition, hyperorality, and hypermetamorphosis that were originally observed after bilateral lobectomy in Rhesus monkeys. We investigated two...
6.
Straussberg R, Schottmann G, Sadeh M, Gill E, Seifert F, Halevy A, et al.
Acta Neuropathol
. 2016 Aug;
132(3):475-8.
PMID: 27484770
No abstract available.
7.
Schottmann G, Sarpong A, Lorenz C, Weinhold N, Gill E, Teschner L, et al.
Mov Disord
. 2016 Jul;
31(11):1733-1739.
PMID: 27400804
Background: Recessive mutations in the 3-hydroxyisobutyryl-CoA hydrolase gene (HIBCH) are associated with a rare neurodegenerative disease that affects the basal ganglia. Most patients die during infancy or early childhood. Here...
8.
Petkova M, Morales-Gonzales S, Relizani K, Gill E, Seifert F, Radke J, et al.
Skelet Muscle
. 2016 Jul;
6:25.
PMID: 27382459
Background: Dystrophin is a rod-shaped cytoplasmic protein that provides sarcolemmal stability as a structural link between the cytoskeleton and the extracellular matrix via the dystrophin-associated protein complex (DAPC). Mutations in...
9.
Schottmann G, Seelow D, Seifert F, Morales-Gonzalez S, Gill E, Au K, et al.
Neurol Genet
. 2016 Apr;
1(4):e32.
PMID: 27066569
Objective: To identify the underlying genetic cause of a congenital neuropathy in a 5-year-old boy as part of a cohort of 32 patients from 23 families with genetically unresolved neuropathies....
10.
Knierim E, Hirata H, Wolf N, Morales-Gonzalez S, Schottmann G, Tanaka Y, et al.
Am J Hum Genet
. 2016 Mar;
98(3):473-489.
PMID: 26924529
Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. We report on recessive loss-of-function mutations in two genes (TRIP4 and ASCC1) that encode subunits...