Horia C Stanescu
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Explore the profile of Horia C Stanescu including associated specialties, affiliations and a list of published articles.
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31
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1615
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Recent Articles
21.
Zdebik A, Mahmood F, Stanescu H, Kleta R, Bockenhauer D, Russell C
PLoS One
. 2013 Nov;
8(11):e79765.
PMID: 24244558
We aimed to develop and validate a reliable method for stable long-term recordings of EEG activity in zebrafish, which is less prone to artifacts than current invasive techniques. EEG activity...
22.
Sumner C, dYdewalle C, Wooley J, Fawcett K, Hernandez D, Gardiner A, et al.
Am J Hum Genet
. 2013 Nov;
93(5):976-83.
PMID: 24207122
Spinal muscular atrophies (SMAs) are a heterogeneous group of inherited disorders characterized by degeneration of anterior horn cells and progressive muscle weakness. In two unrelated families affected by a distinct...
23.
Mahmood F, Mozere M, Zdebik A, Stanescu H, Tobin J, Beales P, et al.
Dis Model Mech
. 2013 Mar;
6(3):652-60.
PMID: 23471908
Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia,...
24.
Jaureguiberry G, de La Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, et al.
Nephron Physiol
. 2013 Feb;
122(1-2):1-6.
PMID: 23434854
Background/aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and...
25.
Coenen M, Hofstra J, Debiec H, Stanescu H, Medlar A, Stengel B, et al.
J Am Soc Nephrol
. 2013 Feb;
24(4):677-83.
PMID: 23431073
The M-type receptor for phospholipase A2 (PLA2R1) is the major target antigen in idiopathic membranous nephropathy (iMN). Our recent genome-wide association study showed that genetic variants in an HLA-DQA1 and...
26.
Hersheson J, Mencacci N, Davis M, MacDonald N, Trabzuni D, Ryten M, et al.
Ann Neurol
. 2013 Feb;
73(4):546-53.
PMID: 23424103
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a characteristic hobby horse ataxic...
27.
Marks S, Gullett A, Brennan E, Tullus K, Jaureguiberry G, Klootwijk E, et al.
Pediatr Nephrol
. 2011 May;
26(10):1857-61.
PMID: 21553326
Renal fibromuscular dysplasia (FMD) can cause hypertension, and previous reports suggest that FMD is familial. We hypothesized that, in families containing an individual with proven FMD, relatives of index cases...
28.
Stanescu H, Arcos-Burgos M, Medlar A, Bockenhauer D, Kottgen A, Dragomirescu L, et al.
N Engl J Med
. 2011 Feb;
364(7):616-26.
PMID: 21323541
Background: Idiopathic membranous nephropathy is a major cause of the nephrotic syndrome in adults, but its etiologic basis is not fully understood. We investigated the genetic basis of biopsy-proven cases...
29.
Thompson D, Feather S, Stanescu H, Freudenthal B, Zdebik A, Warth R, et al.
J Physiol
. 2011 Feb;
589(Pt 7):1681-9.
PMID: 21300747
The K+ channel expressed by the KCNJ10 gene (Kir4.1) has previously demonstrated importance in retinal function in animal experiments. Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing...
30.
St Hilaire C, Ziegler S, Markello T, Brusco A, Groden C, Gill F, et al.
N Engl J Med
. 2011 Feb;
364(5):432-42.
PMID: 21288095
Background: Arterial calcifications are associated with increased cardiovascular risk, but the genetic basis of this association is unclear. Methods: We performed clinical, radiographic, and genetic studies in three families with...