Ilse Kern
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Explore the profile of Ilse Kern including associated specialties, affiliations and a list of published articles.
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22
Citations
424
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Recent Articles
1.
Chauvet E, Ribeiro D, Kern I, Fluss J
J Inherit Metab Dis
. 2024 Feb;
47(2):217-219.
PMID: 38326670
We report the case of a Syrian female refugee with late diagnosis of glutaric aciduria type 1 characterised by massive axial hypotonia and quadriplegia who only started adequate diet upon...
2.
Altomare D, Stampacchia S, Ribaldi F, Tomczyk S, Chevalier C, Poulain G, et al.
J Neurol Neurosurg Psychiatry
. 2023 Apr;
94(6):420-427.
PMID: 37012066
Background: The key Alzheimer's disease (AD) biomarkers are traditionally measured with techniques/exams that are either expensive (amyloid-positron emission tomography (PET) and tau-PET), invasive (cerebrospinal fluid Aβ and p-tau), or poorly...
3.
Kern I, Foland P, Ballhausen D
Rev Med Suisse
. 2023 Feb;
19(815):358-361.
PMID: 36815325
Advances in bioanalytical technologies such as high throughput sequencing have paved the way for an exponential increase in the discovery of inborn errors of metabolism (IEM), which now sum up...
4.
Francois-Heude M, Lebigot E, Roze E, Warde M, Cances C, Damaj L, et al.
Eur J Neurol
. 2022 Oct;
29(11):3229-3242.
PMID: 36200804
Background And Purpose: HIBCH and ECHS1 genes encode two enzymes implicated in the critical steps of valine catabolism, 3-hydroxyisobutyryl-coenzyme A (CoA) hydrolase (HIBCH) and short-chainenoyl-CoA hydratase (ECHS1), respectively. HIBCH deficiency...
5.
Tessitore E, Dobretz K, Dhayat N, Kern I, Ponte B, Pruijm M, et al.
Eur J Clin Invest
. 2021 Oct;
52(2):e13699.
PMID: 34695230
Background: Lipoprotein(a) [Lp(a)] is an LDL-like molecule that is likely causal for cardiovascular events and Lp(a) variability has been shown to be mostly of genetic origin. Exogenous hormones (hormone replacement...
6.
Ansar M, Ranza E, Shetty M, Paracha S, Azam M, Kern I, et al.
Hum Mol Genet
. 2020 Jan;
29(4):618-623.
PMID: 31903486
In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting...
7.
Gencer B, Rigamonti F, Nanchen D, Vuilleumier N, Kern I, Aghlmandi S, et al.
Eur J Clin Invest
. 2019 Apr;
49(7):e13117.
PMID: 30937890
Background: Minimal lipoprotein(a) [Lp(a)] target values are advocated for high-risk cardiovascular patients. We investigated the prognostic value of Lp(a) in the acute setting of patients with acute coronary syndromes (ACS)....
8.
Allali G, Kern I, Laidet M, Armand S, Assal F
J Alzheimers Dis
. 2018 May;
63(4):1373-1381.
PMID: 29843235
Background: Central neurological gait abnormalities (CNGA) are frequently associated with parkinsonism in older adults. However, the neuropathological substrates and the clinical impact of parkinsonism have been not described in CNGA....
9.
Tran C, Serratrice J, Nuoffer J, Schaller A, Favrat B, Barbey F, et al.
Rev Med Suisse
. 2017 Jul;
13(546):159-163.
PMID: 28703515
Rare Diseases, defined by a prevalence of less than 1 per 2000 persons, affect 36 million people in Europe, 500 000 in Switzerland, corresponding to 6-8% of the general population....
10.
Ranza E, Garcia-Tarodo S, Varvagiannis K, Guipponi M, Lobrinus J, Bottani A, et al.
Am J Med Genet A
. 2017 Jun;
173(9):2456-2460.
PMID: 28631894
Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing...