Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Iselin M Wedding"'
Autor:
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0174667 (2017)
Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 10
Externí odkaz:
https://doaj.org/article/9a3d5f8bc6bf4856be877bc902e467dc
Autor:
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft
Publikováno v:
PLoS ONE, Vol 12, Iss 10, p e0186571 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0174667.].
Externí odkaz:
https://doaj.org/article/68446d3120a34f73ada9029a2bab7aa7
Autor:
Siri Lynne Rydning, Iselin M Wedding
Publikováno v:
Brain. 144:1286-1288
This scientific commentary refers to ‘Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia’, by Rebelo et al. (doi: 10.1093/brain/awab071).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02607fd06cdd72e03bf1106969fbe8e3
https://doi.org/10.1093/brain/awab098
https://doi.org/10.1093/brain/awab098
Autor:
Sophie Tezenas du Montcel, Chantal M. E. Tallaksen, Stefan Vielhaber, Judith van Gaalen, Gabriella Silvestri, Sylvia Boesch, Jun-Suk Kang, Judith Machts, Ilaria Giordano, Florian Harmuth, Dagmar Timmann, Bart P.C. van de Warrenburg, Peter Bauer, Thomas Klopstock, Marc Sturm, Matthis Synofzik, Ludger Schöls, Christiane Neuhofer, Heike Jacobi, Marcella Masciullo, Christoph Kamm, Alessandro Filla, Christos Ganos, Thomas Klockgether, Ales Dudesek, Iselin M Wedding, Andreas Eigentler, Brigitte Katrin Paap
Publikováno v:
Neurology, 89, 1043-1049
Neurology 89(10), 1043-1049 (2017). doi:10.1212/WNL.0000000000004311
Neurology, 89, 10, pp. 1043-1049
Neurology 89(10), 1043-1049 (2017). doi:10.1212/WNL.0000000000004311
Neurology, 89, 10, pp. 1043-1049
Objective:To define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations.Methods:The primary measure of disease severity was the Scale for the Assessment and Rating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b26924957c36a5e766822ef292ca5f7f
http://hdl.handle.net/2066/178210
http://hdl.handle.net/2066/178210
Autor:
Iselin M Wedding, Jeanette Koht, Mathias Toft, Lasse Pihlstrøm, Sandra Pilar Henriksen, Aina Rengmark, Siri Lynne Rydning, Chantal M. E. Tallaksen, Zafar Iqbal
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0174667 (2017)
PLoS ONE
PLoS ONE
Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7843fcccfdf48437084d680b920e518e
http://hdl.handle.net/10852/62415
http://hdl.handle.net/10852/62415
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
Autor:
Siri Lynne Rydning, Anne Kjersti Erichsen, Jeanette Koht, Ying Sheng, Paul Hoff Backe, Magnus Dehli Vigeland, Iselin M Wedding, Hanne Sagsveen Hjorthaug, Chantal M. E. Tallaksen, Kaja Kristine Selmer, Inger Anette Hynås Hovden, Piotr Sowa
Publikováno v:
Brain
Despite extensive efforts, half of patients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating novel genes and unrecognized mutations in known genes. Non-coding DNA v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::422c9cbe3291b6923e7b15599d8c72f1
http://europepmc.org/articles/PMC6439323
http://europepmc.org/articles/PMC6439323
Autor:
Iselin M Wedding, Chantal M. E. Tallaksen, Sven Olav Løstegaard, Malek Louha, Jeanette Koht, Marie Vidailhet
Publikováno v:
Cerebellum & Ataxias
Cerebellum & Ataxias, 2016, 3 (1), pp.3. ⟨10.1186/s40673-016-0041-7⟩
Cerebellum & Ataxias, 2016, 3 (1), pp.3. ⟨10.1186/s40673-016-0041-7⟩
Background Benign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyroidism and lung disease are fre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be88ff8f4d097040d16986e3e91beeec
https://hal.sorbonne-universite.fr/hal-01281761/document
https://hal.sorbonne-universite.fr/hal-01281761/document
Autor:
Ying Sheng, Magnus Dehli Vigeland, Ane-Marte Øye, Chantal M. E. Tallaksen, Siri Lynne Rydning, Maninder Singh Chawla, Kaja Kristine Selmer, Iselin M Wedding, Jeanette Koht
Publikováno v:
European journal of neurology. 23(4)
Background and purpose SPG7 is one of the most common forms of autosomal recessive hereditary spastic paraplegia. The phenotype has been shown to be heterogeneous, varying from a complex spastic ataxia to pure spastic paraplegia or pure ataxia. The a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7782a120665a98e5bbb61adfdf819b
https://pubmed.ncbi.nlm.nih.gov/26756429
https://pubmed.ncbi.nlm.nih.gov/26756429
Autor:
Eirik Frengen, Gia T. Tran, Charalampos Tzoulis, Chantal M. E. Tallaksen, Laurence A. Bindoff, Doriana Misceo, Iselin M Wedding, Asbjørn Holmgren, Jeanette Koht, Kaja Kristine Selmer
Publikováno v:
PLoS ONE
e86340
PLoS ONE, Vol 9, Iss 1, p e86340 (2014)
e86340
PLoS ONE, Vol 9, Iss 1, p e86340 (2014)
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. The mechanism whereby p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82bc7830201f5b8f5f34e019bbc08db9
http://hdl.handle.net/10852/38316
http://hdl.handle.net/10852/38316
Publikováno v:
BMC Neurology
Background: There is an increasing awareness of the role of the cerebellum not only in motor, but also in cognitive and emotional functions. Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant hereditary ataxia characterized by a relative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a3898e7e9ec61d1660461765af320ad