Koht J - Search Results

1

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D. Gras D, et al. Among authors: koht j. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24. J Neurol Neurosurg Psychiatry. 2012. PMID: 22832740

2

Benign hereditary chorea, not only chorea: a family case presentation.

Koht J, Løstegaard SO, Wedding I, Vidailhet M, Louha M, Tallaksen CM. Koht J, et al. Cerebellum Ataxias. 2016 Feb 2;3:3. doi: 10.1186/s40673-016-0041-7. eCollection 2016. Cerebellum Ataxias. 2016. PMID: 26839702 Free PMC article.

3

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.

Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CM. Koht J, et al. Acta Neurol Scand. 2012 Feb;125(2):116-22. doi: 10.1111/j.1600-0404.2011.01504.x. Epub 2011 Mar 21. Acta Neurol Scand. 2012. PMID: 21434874

4

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature.

Trouillard O, Koht J, Gerstner T, Moland S, Depienne C, Dusart I, Méneret A, Ruiz M, Dubacq C, Roze E. Trouillard O, et al. Among authors: koht j. Tremor Other Hyperkinet Mov (N Y). 2016 Nov 3;6:424. doi: 10.7916/D8BK1CNF. eCollection 2016. Tremor Other Hyperkinet Mov (N Y). 2016. PMID: 27830107 Free PMC article.

5

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M. Anheim M, et al. Among authors: koht j. Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20. Brain. 2009. PMID: 19696032

6

Cerebellar ataxia in the eastern and southern parts of Norway.

Koht J, Tallaksen CM. Koht J, et al. Acta Neurol Scand Suppl. 2007;187:76-9. doi: 10.1111/j.1600-0404.2007.00853.x. Acta Neurol Scand Suppl. 2007. PMID: 17419835

7

Ataxia with vitamin E deficiency in southeast Norway, case report.

Koht J, Bjørnarå KA, Jørum E, Tallaksen CM. Koht J, et al. Acta Neurol Scand Suppl. 2009;(189):42-5. doi: 10.1111/j.1600-0404.2009.01214.x. Acta Neurol Scand Suppl. 2009. PMID: 19566498

8

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

Koht J, Rengmark A, Opladen T, Bjørnarå KA, Selberg T, Tallaksen CM, Blau N, Toft M. Koht J, et al. Acta Neurol Scand Suppl. 2014;(198):7-12. doi: 10.1111/ane.12230. Acta Neurol Scand Suppl. 2014. PMID: 24588500

9

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.

Wedding IM, Koht J, Dietrichs E, Landrø NI, Tallaksen CM. Wedding IM, et al. Among authors: koht j. BMC Neurol. 2013 Nov 29;13:186. doi: 10.1186/1471-2377-13-186. BMC Neurol. 2013. PMID: 24289098 Free PMC article.

10

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Erichsen AK, et al. Among authors: koht j. Brain. 2009 Jun;132(Pt 6):1577-88. doi: 10.1093/brain/awp056. Epub 2009 Mar 31. Brain. 2009. PMID: 19339254

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