Geir J Braathen
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Explore the profile of Geir J Braathen including associated specialties, affiliations and a list of published articles.
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23
Citations
226
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Recent Articles
1.
Cortese A, Dohrn M, Curro R, Negri S, Lassuthova P, Pisciotta C, et al.
Brain
. 2025 Feb;
PMID: 39938083
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the disease...
2.
Hoyer H, Busk O, Esbensen Q, Rosby O, Hilmarsen H, Russell M, et al.
BMC Neurol
. 2022 Aug;
22(1):299.
PMID: 35971119
Background: Aminoacyl tRNA-synthetases are ubiquitously-expressed enzymes that attach amino acids to their cognate tRNA molecules. Mutations in several genes encoding aminoacyl tRNA-synthetases, have been associated with peripheral neuropathy, i.e. AARS1,...
3.
Hoyer H, Hilmarsen H, Sunder-Plassmann R, Braathen G, Andersen P, Beetz C, et al.
J Med Genet
. 2022 Mar;
59(10):1024-1026.
PMID: 35318247
No abstract available.
4.
Rustad C, Tveten K, Braathen G, Merckoll E, Kirkhus E, Fossmo H, et al.
Tidsskr Nor Laegeforen
. 2022 Feb;
142(2).
PMID: 35107936
No abstract available.
5.
Rustad C, Tveten K, Braathen G, Merckoll E, Kirkhus E, Fossmo H, et al.
Tidsskr Nor Laegeforen
. 2022 Jan;
142(1).
PMID: 35026081
Background: Arthrogryposis multiplex congenita (AMC) is a descriptive term that encompasses a group of congenital, aetiologically heterogeneous conditions characterised by multiple joint contractions. Case Presentation: As a teenager, the index...
6.
Amor-Barris S, Hoyer H, Brauteset L, De Vriendt E, Strand L, Jordanova A, et al.
Orphanet J Rare Dis
. 2021 Mar;
16(1):116.
PMID: 33663550
Background: Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to...
7.
Al Mandhari H, Al-Musalhi B, Al Mahroqi N, Hilmarsen H, Braathen G, Khnykin D
Int J Dermatol
. 2020 Dec;
60(3):368-371.
PMID: 33319372
Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the SLC27A4 gene that encodes the fatty acid transport protein...
8.
Senderek J, Lassuthova P, Kabzinska D, Abreu L, Baets J, Beetz C, et al.
Neurology
. 2020 Nov;
95(24):e3163-e3179.
PMID: 33144514
Objective: To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients...
9.
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...
10.
Hoyer H, Braathen G, Busk O, Holla O, Svendsen M, Hilmarsen H, et al.
Biomed Res Int
. 2015 Nov;
2015:314651.
PMID: 26558264
No abstract available.