Publications by Anne Kjersti Erichsen
14 publications found
Original articles
Successful treatment with repeated dexamethasone implant injections for recurrent macular edema after acute retinal necrosis
J Ophthalmic Inflamm Infect, 12 (1), 33
DOI 10.1186/s12348-022-00310-5, PubMed 36269441
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Front Cell Dev Biol, 10, 783762
DOI 10.3389/fcell.2022.783762, PubMed 35295849
A polymorphic Alu insertion that mediates distinct disease-associated deletions
Eur J Hum Genet, 24 (9), 1371-4
DOI 10.1038/ejhg.2016.20, PubMed 26932189
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
Orphanet J Rare Dis, 9, 146
DOI 10.1186/s13023-014-0146-0, PubMed 25258038
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
Eur J Hum Genet, 18 (9), 1065-7
DOI 10.1038/ejhg.2010.68, PubMed 20461110
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
Brain, 132 (Pt 6), 1577-88
DOI 10.1093/brain/awp056, PubMed 19339254
Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations
J Neurol Sci, 277 (1-2), 124-9
DOI 10.1016/j.jns.2008.10.030, PubMed 19084842
SPG11--the most common type of recessive spastic paraplegia in Norway?
Acta Neurol Scand Suppl, 188, 46-50
DOI 10.1111/j.1600-0404.2008.01031.x, PubMed 18439221
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
Brain, 131 (Pt 3), 772-84
DOI 10.1093/brain/awm293, PubMed 18079167
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia
Eur J Neurol, 14 (7), 809-14
DOI 10.1111/j.1468-1331.2007.01861.x, PubMed 17594340
Hereditary spastic paraplegia 3A associated with axonal neuropathy
Arch Neurol, 64 (5), 706-13
DOI 10.1001/archneur.64.5.706, PubMed 17502470
Other articles
A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy
Am J Ophthalmol Case Rep, 26, 101400
DOI 10.1016/j.ajoc.2022.101400, PubMed 35243150
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
Brain, 142 (4), e12
DOI 10.1093/brain/awz041, PubMed 30847471
Theses
Hereditary spastic paraplegia in Norway: prevalence, phenotypes and genotypes of collected patients
In Series of dissertations submitted to the Faculty of Medicine, University of Oslo, Unipub, Oslo, no. 863, 1 b. (flere pag.)
BIBSYS 100056156, ISBN 978-82-8072-565-3