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Friedreich ataxia in Norway - an epidemiological, molecular and clinical study.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0328-4
By:
- Wedding, Iselin Marie;
- Kroken, Mette;
- Henriksen, Sandra Pilar;
- Selmer, Kaja Kristine;
- Fiskerstrand, Torunn;
- Knappskog, Per Morten;
- Berge, Tone;
- Tallaksen, Chantal M. E.
Publication type:
Article
Friedreich ataxia in Norway -- an epidemiological, molecular and clinical study.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0328-4
By:
- Wedding, Iselin Marie;
- Kroken, Mette;
- Henriksen, Sandra Pilar;
- Selmer, Kaja Kristine;
- Fiskerstrand, Torunn;
- Knappskog, Per Morten;
- Berge, Tone;
- Tallaksen, Chantal M. E.
Publication type:
Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0146-0
By:
- Heimdal, Ketil;
- Sanchez-Guixé, Monica;
- Aukrust, Ingvild;
- Bollerslev, Jens;
- Bruland, Ove;
- Jablonski, Greg Eigner;
- Erichsen, Anne Kjersti;
- Gude, Einar;
- Koht, Jeanette A.;
- Erdal, Sigrid;
- Fiskerstrand, Torunn;
- Haukanes, Bjørn Ivar;
- Boman, Helge;
- Bjørkhaug, Lise;
- Tallaksen, Chantal M. E.;
- Knappskog, Per M.;
- Johansson, Stefan
Publication type:
Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Published in:
2014
By:
- Heimdal, Ketil;
- Sanchez-Guixé, Monica;
- Aukrust, Ingvild;
- Bollerslev, Jens;
- Bruland, Ove;
- Jablonski, Greg Eigner;
- Erichsen, Anne Kjersti;
- Gude, Einar;
- Koht, Jeanette A;
- Erdal, Sigrid;
- Fiskerstrand, Torunn;
- Haukanes, Bjørn Ivar;
- Boman, Helge;
- Bjørkhaug, Lise;
- Tallaksen, Chantal M E;
- Knappskog, Per M;
- Johansson, Stefan
Publication type:
journal article
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Published in:
2019
By:
- Rydning, Siri L;
- Koht, Jeanette;
- Sheng, Ying;
- Sowa, Piotr;
- Hjorthaug, Hanne S;
- Wedding, Iselin M;
- Erichsen, Anne Kjersti;
- Hovden, Inger Anette;
- Backe, Paul H;
- Tallaksen, Chantal M E;
- Vigeland, Magnus D;
- Selmer, Kaja K
Publication type:
Letter
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Published in:
2018
By:
- Parodi, Livia;
- Fenu, Silvia;
- Barbier, Mathieu;
- Banneau, Guillaume;
- Duyckaerts, Charles;
- Montcel, Sophie Tezenas du;
- Monin, Marie-Lorraine;
- Said, Samia Ait;
- Guegan, Justine;
- Tallaksen, Chantal M E;
- Tezenas du Montcel, Sophie;
- Ait Said, Samia;
- Sablonniere, Bertrand;
- Brice, Alexis;
- Stevanin, Giovanni;
- Depienne, Christel;
- Durr, Alexandra;
- SPATAX network
Publication type:
journal article
Age-dependent penetrance among females with X-linked adrenoleukodystrophy.
Published in:
Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. e325, doi. 10.1093/brain/awu232
By:
- Horn, Morten A.;
- Retterstøl, Lars;
- Abdelnoor, Michael;
- Skjeldal, Ola H.;
- Tallaksen, Chantal M. E.
Publication type:
Article
Postradiation Lower Motor Neuron Syndrome: A Case Report and Brief Literature Review.
Published in:
Acta Oncologica, 1997, v. 36, n. 3, p. 345, doi. 10.3109/02841869709001276
By:
- Tallaksen, Chantal M. E.;
- Jetne, Vidar;
- Foss, Sophie
Publication type:
Article
Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions.
Published in:
PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086340
By:
- Wedding, Iselin Marie;
- Koht, Jeanette;
- Tran, Gia Tuong;
- Misceo, Doriana;
- Selmer, Kaja Kristine;
- Holmgren, Asbjørn;
- Frengen, Eirik;
- Bindoff, Laurence;
- Tallaksen, Chantal M. E.;
- Tzoulis, Charalampos
Publication type:
Article
Late Onset Myasthenia Gravis Is Associated with HLA DRB1*15:01 in the Norwegian Population.
Published in:
PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036603
By:
- Maniaol, Angelina H.;
- Elsais, Ahmed;
- Lorentzen, Åslaug R.;
- Owe, Jone F.;
- Viken, Marte K.;
- Sæther, Hanne;
- Flåm, Siri T.;
- Bråthen, Geir;
- Kampman, Margitta T.;
- Midgard, Rune;
- Christensen, Marte;
- Rognerud, Anna;
- Kerty, Emilia;
- Gilhus, Nils Erik;
- Tallaksen, Chantal M. E.;
- Lie, Benedicte A.;
- Harbo, Hanne F.
Publication type:
Article
Autosomal dominant hereditary ataxia in Sri Lanka.
Published in:
BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-39
By:
- Sumathipala, Dulika S.;
- Abeysekera, Gayan S.;
- Jayasekara, Rohan W.;
- Tallaksen, Chantal M. E.;
- Dissanayake, Vajira H. W.
Publication type:
Article
Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm.
Published in:
2013
By:
- Wedding, Iselin Marie;
- Koht, Jeanette;
- Dietrichs, Espen;
- Landrø, Nils Inge;
- Tallaksen, Chantal Me;
- Tallaksen, Chantal M E
Publication type:
journal article
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1065, doi. 10.1038/ejhg.2010.68
By:
- Schlipf, Nina A.;
- Beetz, Christian;
- Schüle, Rebecca;
- Stevanin, Giovanni;
- Erichsen, Anne Kjersti;
- Forlani, Sylvie;
- Zaros, Cécile;
- Karle, Kathrin;
- Klebe, Stephan;
- Klimpe, Sven;
- Durr, Alexandra;
- Otto, Susanne;
- Tallaksen, Chantal M. E.;
- Riess, Olaf;
- Brice, Alexis;
- Bauer, Peter;
- Schöls, Ludger
Publication type:
Article
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 6, p. 1577, doi. 10.1093/brain/awp056
By:
- Erichsen, Anne Kjersti;
- Koht, Jeanette;
- Stray-Pedersen, Asbjørg;
- Abdelnoor, Michael;
- Tallaksen, Chantal M. E.
Publication type:
Article
Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 8, p. 1595, doi. 10.1111/epi.14459
By:
- Hikmat, Omar;
- Naess, Karin;
- Engvall, Martin;
- Klingenberg, Claus;
- Rasmussen, Magnhild;
- Tallaksen, Chantal M. E.;
- Brodtkorb, Eylert;
- Fiskerstrand, Torunn;
- Isohanni, Pirjo;
- Uusimaa, Johanna;
- Darin, Niklas;
- Rahman, Shamima;
- Bindoff, Laurence A.
Publication type:
Article
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.
Published in:
Clinical Case Reports, 2016, v. 4, n. 2, p. 177, doi. 10.1002/ccr3.434
By:
- Horn, Morten A.;
- Mikaelsen, Karin B. M.;
- Ferdinandusse, Sacha;
- Jørum, Ellen;
- Mellgren, Svein I.;
- Retterstøl, Lars;
- Wanders, Ronald J. A.;
- Tallaksen, Chantal M. E.
Publication type:
Article
The impact of gender, puberty, and pregnancy in patients with POLG disease.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2019, doi. 10.1002/acn3.51199
By:
- Hikmat, Omar;
- Naess, Karin;
- Engvall, Martin;
- Klingenberg, Claus;
- Rasmussen, Magnhild;
- Tallaksen, Chantal M. E.;
- Samsonsen, Christian;
- Brodtkorb, Eylert;
- Ostergaard, Elsebet;
- de Coo, Rene;
- Pias‐Peleteiro, Leticia;
- Isohanni, Pirjo;
- Uusimaa, Johanna;
- Darin, Niklas;
- Rahman, Shamima;
- Bindoff, Laurence A.
Publication type:
Article
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.
Published in:
2018
By:
- Hikmat, Omar;
- Tzoulis, Charalampos;
- Klingenberg, Claus;
- Rasmussen, Magnhild;
- Tallaksen, Chantal M. E.;
- Brodtkorb, Eylert;
- Fiskerstrand, Torunn;
- McFarland, Robert;
- Rahman, Shamima;
- Bindoff, Laurence A.
Publication type:
Erratum
Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease.
Published in:
Clinical Endocrinology, 2013, v. 79, n. 3, p. 316, doi. 10.1111/cen.12159
By:
- Horn, Morten A.;
- Erichsen, Martina M.;
- Wolff, Anette S. B.;
- Månsson, Jan‐Eric;
- Husebye, Eystein S.;
- Tallaksen, Chantal M. E.;
- Skjeldal, Ola H.
Publication type:
Article
Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Published in:
PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186571
By:
- Iqbal, Zafar;
- Rydning, Siri L.;
- Wedding, Iselin M.;
- Koht, Jeanette;
- Pihlstrøm, Lasse;
- Rengmark, Aina H.;
- Henriksen, Sandra P.;
- Tallaksen, Chantal M. E.;
- Toft, Mathias
Publication type:
Article
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Published in:
PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0174667
By:
- Iqbal, Zafar;
- Rydning, Siri L.;
- Wedding, Iselin M.;
- Koht, Jeanette;
- Pihlstrøm, Lasse;
- Rengmark, Aina H.;
- Henriksen, Sandra P.;
- Tallaksen, Chantal M. E.;
- Toft, Mathias
Publication type:
Article

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