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Publications by Anne Kjersti Erichsen

14 publications found

Original articles

Sørland RØ, Erichsen AK, Jonsdottir TE, Bromnes MN, Lauritzen PM, Eidet JR (2022)
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

Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R et al. (2022)
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

Jahic A, Erichsen AK, Deufel T, Tallaksen CM, Beetz C (2016)
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

Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S (2014)
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

Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L (2010)
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

Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM (2009)
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

Erichsen AK, Server A, Landrø NI, Sandvik L, Tallaksen CM (2008)
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

Erichsen AK, Stevanin G, Denora P, Brice A, Tallaksen CM (2008)
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

Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S et al. (2007)
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

Erichsen AK, Inderhaug E, Mattingsdal M, Eiklid K, Tallaksen CM (2007)
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

Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P (2007)
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

Eriksen KO, Wigers AR, Wedding IM, Erichsen AK, Barøy T, Søberg K, Jørstad ØK (2022)
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

Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, Erichsen AK, Hovden IA, Backe PH, Tallaksen CME, Vigeland MD, Selmer KK (2019)
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

Erichsen AK (2009)
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