Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Anne Kjersti Erichsen"'
Autor:
Ragnhild Øvstebø Sørland, Anne Kjersti Erichsen, Thora Elisabet Jonsdottir, Marius Nordberg Bromnes, Peter Mæhre Lauritzen, Jon Roger Eidet
Publikováno v:
Journal of Ophthalmic Inflammation and Infection, Vol 12, Iss 1, Pp 1-3 (2022)
Abstract Background The treatment of recurrent cystoid macular edema associated with acute retinal necrosis is challenging due to the concern that treatment with intravitreal steroids may reactivate the retinitis. Case report An immunocompetent patie
Externí odkaz:
https://doaj.org/article/1b63843da6484e4787c2dccba3a7a915
Autor:
Kathrine O. Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, Anne Kjersti Erichsen, Tuva Barøy, Kristoffer Søberg, Øystein Kalsnes Jørstad
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 26, Iss , Pp 101400- (2022)
Purpose: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene. Observations: A 57-year-old man suffering from progressive optic nerve atrophy since
Externí odkaz:
https://doaj.org/article/16d5c2b889a649b185a6450f0c691660
Autor:
Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Rosario Francisco-Velilla, Azman Embarc-Buh, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic od
Externí odkaz:
https://doaj.org/article/5d4040678c7b47c1897c45d67b96d069
Autor:
Jan Egil Nordvik, T. George Hornby, Anne Kjersti Erichsen, FIRST-Oslo Team, Ingvild Rosseland, Elisabeth Bø, Jennifer L. Moore
Publikováno v:
Stroke
Background and Purpose— Therapeutic strategies that capitalize on the intrinsic capacity for neurological recovery early poststroke to improve locomotion are uncertain. Emerging data suggest that task-specific stepping practice provided at higher c
Autor:
Deepa S, Rajan, Sukhleen, Kour, Tyler R, Fortuna, Margot A, Cousin, Sarah S, Barnett, Zhiyv, Niu, Dusica, Babovic-Vuksanovic, Eric W, Klee, Brian, Kirmse, Micheil, Innes, Siri Lynne, Rydning, Kaja K, Selmer, Magnus Dehli, Vigeland, Anne Kjersti, Erichsen, Andrea H, Nemeth, Francisca, Millan, Catherine, DeVile, Katherine, Fawcett, Adrien, Legendre, David, Sims, Ricardo Parolin, Schnekenberg, Lydie, Burglen, Sandra, Mercier, Somayeh, Bakhtiari, Rosario, Francisco-Velilla, Azman, Embarc-Buh, Encarnacion, Martinez-Salas, Kristen, Wigby, Jerica, Lenberg, Jennifer R, Friedman, Michael C, Kruer, Udai Bhan, Pandey
Publikováno v:
Frontiers in cell and developmental biology. 10
The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic od
Autor:
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood
Korrektur zu 10.1038/s41436-020-0899-x
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb87ec820e417dedaa86c6a0e5a846aa
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85097942898
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85097942898
Autor:
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S. Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1851-1862. ⟨10.1038/s41436-020-0899-x⟩
Genetics in medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1851-1862. ⟨10.1038/s41436-020-0899-x⟩
Genetics in medicine
International audience; Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48).Methods: We analyzed a large ser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c4642c4e5d177527da8016ea948e04
https://hal.umontpellier.fr/hal-03369330
https://hal.umontpellier.fr/hal-03369330
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
Publikováno v:
Journal of the Neurological Sciences. 277:124-129
The hereditary spastic paraplegias (HSP) are heterogeneous neurodegenerative disorders characterized by progressive spasticity and weakness in the lower limbs. Axonal loss in the long corticospinal tracts has been shown. Supraspinal symptoms and find
Publikováno v:
European journal of human genetics : EJHG. 24(9)
Large deletions that are associated with insertions of Alu-derived sequence represent a rare, but potentially unique class of alterations. Whether they form by a one-step mechanism or by a primary insertion step followed by an independent secondary d