Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Suzanne Granhøj Lindquist"'
Autor:
Emilie Neerup, Nielsen, Birna, Ásbjörnsdóttir, Lisbeth Birk, Møller, Jørgen Erik, Nielsen, Suzanne Granhøj, Lindquist
Publikováno v:
Cold Spring Harbor molecular case studies. 8(6)
Episodic ataxia type 1 and 2 (EA1 and EA2) are the most well-described of the episodic ataxias. They are autosomal dominantly inherited early-onset diseases characterized by attacks of cerebellar dysfunction. EA1 is clinically characterized by short
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e4e6cbe792287ca52f21fe9968e4c3e7
https://pubmed.ncbi.nlm.nih.gov/36307210
https://pubmed.ncbi.nlm.nih.gov/36307210
Autor:
Lisbeth Birk Møller, Christine I Dali, Suzanne Granhøj Lindquist, Lisbeth Marner, Lena E. Hjermind, Jørgen E. Nielsen, Erik-Jan Kamsteeg
Publikováno v:
Cerebellum, 16, 1, pp. 268-271
Cerebellum, 16, 268-271
Cerebellum, 16, 268-271
Item does not contain fulltext Spinocerebellar ataxia type 11 (SCA11) is rare and has previously been described in four families worldwide. We report a Danish family with onset of symptoms in early childhood and affected family members in two generat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df8191cf3683453651c7dc49e799d48d
https://hdl.handle.net/2066/169903
https://hdl.handle.net/2066/169903
Autor:
P. St. George-Hyslop, Marianne Schwartz, Justyna M.C. Bahl, Mustafa Batbayli, Anne Nørremølle, Fusheng Chen, Jette Stokholm, Henning Laursen, Raphaëlle Pardossi-Piquard, Birgitte Bo Andersen, Niels H. H. Heegaard, Suzanne Granhøj Lindquist, Lis Hasholt, Jørgen E. Nielsen, Gunhild Waldemar
Publikováno v:
European Journal of Neurology. 15:1135-1139
Background: Mutations in the Presenilin 2 gene (PSEN2) are rare causes of Alzheimer’s disease (AD). Pathogenic mutations in the genes associated with autosomal dominant inherited AD have been shown to alter processing of the amyloid precursor prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b8f487feffb04cae700abf6361040a7
https://doi.org/10.1111/j.1468-1331.2008.02256.x
https://doi.org/10.1111/j.1468-1331.2008.02256.x
Autor:
Jørgen E. Nielsen, Kirsten Svenstrup, Adrian M. Isaacs, Suzanne Granhøj Lindquist, Hans Brændgaard
Publikováno v:
European Journal of Neurology. 15:667-670
Background: Among patients with onset of dementia below the age of 65 years, frontotemporal dementia (FTD) is the second most prevalent cause, secondary only to Alzheimer's disease. Recent advances in understanding the heterogeneous genetic backgroun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e7058ed04f3b849a3016fac5a7bad7a
https://doi.org/10.1111/j.1468-1331.2008.02144.x
https://doi.org/10.1111/j.1468-1331.2008.02144.x
Autor:
Jesper Erdal, Jørgen E. Nielsen, Gunhild Waldemar, Mustafa Batbayli, Jette Stokholm, Martin Ballegaard, Suzanne Granhøj Lindquist, Katja Krabbe, Marianne Schwartz
Publikováno v:
Journal of the Neurological Sciences. 268:124-130
Background Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (AP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f4b8d6d825ff3e5b19726d2b61a581d
https://doi.org/10.1016/j.jns.2007.11.021
https://doi.org/10.1016/j.jns.2007.11.021
Publikováno v:
Ugeskrift for laeger. 176(43)
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease of upper and lower motor neurons which often results in death from respiratory failure within 2-4 years. It has been estimated that 5-10% of ALS patients have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5d9833bf83c2d338417f9c738b5fba64
https://pubmed.ncbi.nlm.nih.gov/25353674
https://pubmed.ncbi.nlm.nih.gov/25353674
Publikováno v:
Journal of the neurological sciences. 241(1-2)
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominantly inherited disorder characterized by cerebellar ataxia, dysarthria and nystagmus. The molecular background for the disorder is a CAG repeat expansion in the CACNA1A gene located on chromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31f0d282a0195d136526e1d85b6f734c
https://pubmed.ncbi.nlm.nih.gov/16310805
https://pubmed.ncbi.nlm.nih.gov/16310805