Ute Moog
Overview
Explore the profile of Ute Moog including associated specialties, affiliations and a list of published articles.
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Articles
76
Citations
2526
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Recent Articles
11.
Harting I, Al-Saady M, Krageloh-Mann I, Bley A, Hempel M, Bierhals T, et al.
Neurogenetics
. 2020 Jan;
21(2):121-133.
PMID: 31940116
Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia...
12.
Toberer F, Moog U, Enk A, Hartschuh W
J Dtsch Dermatol Ges
. 2020 Jan;
18(3):247-250.
PMID: 31922644
No abstract available.
13.
Staufner C, Peters B, Wagner M, Alameer S, Baric I, Broue P, et al.
Genet Med
. 2019 Nov;
22(3):610-621.
PMID: 31761904
Purpose: Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously...
14.
Dikow N, Moog U, Karch S, Sander A, Kilian S, Blank R, et al.
J Appl Res Intellect Disabil
. 2019 Apr;
32(5):1129-1137.
PMID: 30983121
Background: Caring for a child with intellectual disability (ID) has been associated with increased social and psychological burdens. Diagnostic and prognostic uncertainty may enhance emotional stress in families. Method: The...
15.
Ott T, Kaufmann L, Granzow M, Hinderhofer K, Bartram C, Theiss S, et al.
Front Physiol
. 2019 Mar;
10:134.
PMID: 30858804
Joubert syndrome (JS) is a congenital autosomal-recessive or-in rare cases-X-linked inherited disease. The diagnostic hallmark of the so-called molar tooth sign describes the morphological manifestation of the mid- and hind-brain...
16.
Moog U, Dobyns W
Am J Med Genet C Semin Med Genet
. 2018 Dec;
178(4):414-422.
PMID: 30580480
Oculocerebrocutaneous syndrome (OCCS) is a rare disorder characterized primarily by congenital skin, eye, and brain anomalies. The most distinctive findings are hypoplastic or aplastic skin defects; pedunculated, typically hamartomatous, or...
17.
Erger F, Burau K, Elsasser M, Zimmermann K, Moog U, Netzer C
Eur J Hum Genet
. 2018 Jun;
26(9):1392-1395.
PMID: 29891879
Complete uniparental isodisomy (iUPD)-the presence of two identical chromosomes in an individual that originate from only a single parental homolog-is an underestimated cause of recessive Mendelian disease in humans. Correctly...
18.
Gennarino V, Palmer E, McDonell L, Wang L, Adamski C, Koire A, et al.
Cell
. 2018 Feb;
172(5):924-936.e11.
PMID: 29474920
Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type protein, Ataxin1, caused by haploinsufficiency of its repressor, the...
19.
Kury S, van Woerden G, Besnard T, Proietti Onori M, Latypova X, Towne M, et al.
Am J Hum Genet
. 2017 Nov;
101(5):768-788.
PMID: 29100089
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development...
20.
Theil A, Mandemaker I, van den Akker E, Swagemakers S, Raams A, Wust T, et al.
Hum Mol Genet
. 2017 Oct;
26(23):4689-4698.
PMID: 28973399
The rare recessive developmental disorder Trichothiodystrophy (TTD) is characterized by brittle hair and nails. Patients also present a variable set of poorly explained additional clinical features, including ichthyosis, impaired intelligence,...