Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Cecilia Zander"'
Autor:
Kerstin Lindblad, Per-Olof Nylander, An De bruyn, Daniel Sourey, Cecilia Zander, Christer Engström, Gösta Holmgren, Tom Hudson, Jayanti Chotai, Julien Mendlewicz, Christine Van Broeckhoven, Martin Schalling, Rolf Adolfsson
Publikováno v:
Neurobiology of Disease, Vol 2, Iss 1, Pp 55-62 (1995)
Genetic factors are of major aetiological importance in Bipolar Affective Disorder (BPAD type I and II). The exact mode of inheritance of BPAD is unknown, but the recent demonstration of anticipation suggests that dynamic mutations could be involved
Externí odkaz:
https://doaj.org/article/b271e77b27f940199fa915f9b6cceabc
Autor:
V. Albanese, Anne-Sophie Lebre, K. H. El Hachimi, Alexis Brice, Cecilia Zander, Hiroto Fujigasaki, Charles Duyckaerts, Junko Takahashi, Giovanni Stevanin
Publikováno v:
Human Molecular Genetics. 10:2569-2579
Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant polyglutamine disorder presenting with progressive cerebellar ataxia and blindness. The molecular mechanisms underlying the selective neuronal death typical of SCA7 are unknown. We have es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15b4eb6c31029d7f6e4d62d790b00a1c
https://doi.org/10.1093/hmg/10.22.2569
https://doi.org/10.1093/hmg/10.22.2569
Autor:
Russell L. Margolis, Cecilia Zander, Susan E. Holmes, Ishwar C. Verma, Ish Anand, Alexis Brice, Renu Saxena, Hiroto Fujigasaki, Alexandra Durr, Christopher A. Ross, Laure Jamot, Anne-Sophie Lebre, Agnès Camuzat
Publikováno v:
Annals of Neurology. 49:117-121
Spinocerebellar ataxia 12 (SCA12) is an autosomal dominant cerebellar ataxia (ADCA) described in a single family with a CAG repeat expansion in the PPP2R2B gene. We screened 247 index cases, including 145 families with ADCA, for this expansion. An ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1beb57e1236b4dcbb8ee0ee26c23eaf9
https://doi.org/10.1002/1531-8249(200101)49:1<117::aid-ana19>3.0.co
https://doi.org/10.1002/1531-8249(200101)49:1<117::aid-ana19>3.0.co
Autor:
Charles Duyckaerts, Cecilia Zander, Géraldine Cancel, Merle Ruberg, Monica Holmberg, Anne-Sophie Lebre, Baptiste Faucheux, Alexis Brice, Etienne C. Hirsch, Yves Agid, Gaël Yvert
Publikováno v:
Brain. 123:2519-2530
Spinocerebellar ataxia 7 (SCA7) is a neurodegenerative disease caused by the expansion of a CAG repeat encoding a polyglutamine tract in the protein ataxin-7. We developed antibodies directed against two different parts of the ataxin-7 protein and st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeb0e3f07c117b46b4b2aaeef8b4d25b
https://doi.org/10.1093/brain/123.12.2519
https://doi.org/10.1093/brain/123.12.2519
Autor:
Jacques Mallet, Frank Bellivier, Howard M. Cann, Claudine Laurent, Jean-François Allilaire, Marion Leboyer, Danièle Samolyk, Cecilia Zander, Christian Neri, Franck Schürhoff, Olivier Chavand
Publikováno v:
American Journal of Medical Genetics. 81:338-341
Anticipation has been described in bipolar affective disorder (BPAD). However, there are conflicting results from association studies screening for a link between BPAD and CAG/CTG repeat expansions, the molecular basis of anticipation in several here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecd202e3fa5012a0c3e92ade4c2bfe68
https://doi.org/10.1002/(sici)1096-8628(19980710)81:4<338::aid-ajmg11>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980710)81:4<338::aid-ajmg11>3.0.co
Autor:
Cecilia Zander, Astrid Lunkes, Martin Schalling, Patrícia Maciel, Alexis Brice, Giovanni Stevanin, Guy A. Rouleau, K. Lindblad, Tim Ratzlaff, Georg Auburger, Thomas Klockgether, Thomas J. Hudson
Publikováno v:
Molecular Medicine. 2:77-85
Several neurological disorders have recently been explained through the discovery of expanded DNA repeat sequences. Among these is Machado-Joseph disease, one of the most common spinocerebellar ataxias (MJD/SCA3), caused by a CAG repeat expansion on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69743fdbd02856b0edbdc324beedf75e
https://doi.org/10.1007/bf03402204
https://doi.org/10.1007/bf03402204
Autor:
Morwena Latouche, Cecilia Zander, Giovanni Stevanin, Merle Ruberg, Pascal Fragner, Annie Sittler, Elodie Martin, Khalid Hamid El Hachimi, Alexis Brice
Publikováno v:
Molecular and cellular neurosciences. 31(3)
Spinocerebellar ataxia type 7 (SCA7) is caused by expansion of a (CAG)n repeat in the ataxin7 gene, resulting in an abnormally long polyglutamine polyQ tract in the translated protein that aggregates in the form of neuronal intranuclear inclusions. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf23ad50ad461dcf6724cd6f7ee76040
https://pubmed.ncbi.nlm.nih.gov/16325416
https://pubmed.ncbi.nlm.nih.gov/16325416
Autor:
Martin Schalling, Cecilia Zander, Alexandra Durr, C Burgess, Kerstin Lindblad-Toh, Qiu-Ping Yuan
Publikováno v:
International Journal of Molecular Medicine.
Until today, nineteen trinucleotide repeat expansions larger than forty repeat copies have been found in the human genome. Of these, the CAG/CTG repeat is predominant motif with twelve loci identified, ten of which have been associated with the devel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c5b8dca23d64adf278f80de2a35fc08
https://doi.org/10.3892/ijmm.8.4.427
https://doi.org/10.3892/ijmm.8.4.427
Autor:
Alexandra Durr, Claire-Sophie Davoine, Qiu-Ping Yuan, Cecilia Zander, Jamilé Hazan, K. Lindblad, M Schalling, Giovanni Stevanin, Alexis Brice, B. Fontaine
Publikováno v:
Neuroscience letters. 279(1)
Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous, neurodegenerative disorder characterized by spasticity and progressive weakness in the lower limbs. Anticipation has been suggested to occur and an association be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c87b1f0e177807400f73f2229a91a93
https://pubmed.ncbi.nlm.nih.gov/10670783
https://pubmed.ncbi.nlm.nih.gov/10670783
Repeat expansion detection (RED) is a powerful tool for detection of expanded repeat sequences in the genome. In RED, DNA serves as a template for a repeat-specific oligonucleotide. A thermostable ligase is used to ligate oligonucleotides that have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d4e3dd3d1584d36f3e910ea5d7e3e2
https://europepmc.org/articles/PMC310789/
https://europepmc.org/articles/PMC310789/
