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1دورية أكاديمية
المؤلفون: Ragnhild Øvstebø Sørland, Anne Kjersti Erichsen, Thora Elisabet Jonsdottir, Marius Nordberg Bromnes, Peter Mæhre Lauritzen, Jon Roger Eidet
المصدر: Journal of Ophthalmic Inflammation and Infection, Vol 12, Iss 1, Pp 1-3 (2022)
مصطلحات موضوعية: Acute retinal necrosis, Cystoid macular edema, Dexamethasone implant, Valacyclovir, Ophthalmology, RE1-994
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1869-5760
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2دورية أكاديمية
المؤلفون: Kathrine O. Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, Anne Kjersti Erichsen, Tuva Barøy, Kristoffer Søberg, Øystein Kalsnes Jørstad
المصدر: American Journal of Ophthalmology Case Reports, Vol 26, Iss , Pp 101400- (2022)
مصطلحات موضوعية: Optic nerve atrophy, Hereditary optic neuropathy, Hereditary spastic paraplegia, Spastic paraplegia 7, SPG7 gene, Ophthalmology, RE1-994
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: 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
المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)
مصطلحات موضوعية: Gemin5, ataxia, cerebellar atrophy, developmental delay, neurodegeneration, cell death, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Jan Egil Nordvik, T. George Hornby, Anne Kjersti Erichsen, FIRST-Oslo Team, Ingvild Rosseland, Elisabeth Bø, Jennifer L. Moore
المصدر: Stroke
مصطلحات موضوعية: Male, 030506 rehabilitation, medicine.medical_specialty, medicine.medical_treatment, Psychological intervention, Walking, Article, Manual Muscle Testing, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Outcome Assessment, Health Care, Humans, Medicine, Generalizability theory, Gait, Postural Balance, Stroke, Balance (ability), Advanced and Specialized Nursing, Inpatients, Rehabilitation, business.industry, Stroke Rehabilitation, Recovery of Function, Middle Aged, medicine.disease, Exercise Therapy, Walk test, Berg Balance Scale, Female, Neurology (clinical), 0305 other medical science, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::006dee6b1fe337a22756dcb5510f23e9
https://doi.org/10.1161/strokeaha.119.027450 -
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المؤلفون: 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
المصدر: Frontiers in cell and developmental biology. 10
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5174e5128f2b13628791665353705fe7
https://pubmed.ncbi.nlm.nih.gov/35295849 -
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المؤلفون: 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
مصطلحات موضوعية: Medizin, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb87ec820e417dedaa86c6a0e5a846aa
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85097942898 -
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المؤلفون: 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
المساهمون: Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Mécanismes moléculaires dans les démences neurodégénératives (MMDN), Université de Montpellier (UM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), CHU Strasbourg, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), University of Tübingen, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), University of Antwerp (UA), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), SPATAX Network, Roux, T., Barbier, M., Papin, M., Davoine, C. -S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Van Maldergen, L., van Broeckhoven, C., Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A., Durr, A., Darios, F., Forlani, S., Site, P. -S., Banneau, G., Cazeneuve, C., Fontaine, B., Azulay, J. -P., Boesfplug-Tanguy, O., Hannequin, D., Hazan, J., Burgo, A., Verny, C., Koenig, M., Labauge, P., N'Guyen, K., Rodriguez, D., Belarbi, S., Hamri, A., Tazir, M., Boesch, S., Pandolfo, M., Laura, J., Guergueltcheva, V., Tournev, I., Pedraza Linares, O. L., Nielsen, J. E., Svenstrup, K., Zaki, M., Bauer, P., Schols, L., Schule, R., Lossos, A., Bassi, M. -T., Basso, M., Bertini, E., Brusco, A., Casali, C., Casari, G., Criscuolo, C., Filla, A., Orsi, L., Santorelli, F. M., Valente, E. M., Vavla, M., Vazza, G., Megarbane, A., Benomar, A., Kremer, B., Van Roon-Mom, W., Roxburgh, R., Erichsen, A. K., Tallaksen, C., Alonso, I., Coutinho, P., Loureiro, J. L., Sequeiros, J., Salih, M., Kostic, V. S., Rouco Axpe, I., Elsayed, L., Paucar, M. A., Roumani, S., Bing-Wen, S., Reid, E., Suran, N., Warner, T., Wood, N.
المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1851-1862. ⟨10.1038/s41436-020-0899-x⟩
Genetics in medicineمصطلحات موضوعية: Male, Pathology, MESH: Ataxia, Purkinje cell, Medizin, MESH: Cognitive Dysfunction, 0302 clinical medicine, spinocerebellar ataxia, ATP-Dependent Proteases, SCA48, Medicine, Genetics (clinical), 0303 health sciences, Penetrance, 3. Good health, MESH: Cerebellar Ataxia, MESH: ATPases Associated with Diverse Cellular Activities, medicine.anatomical_structure, Spinocerebellar ataxia, Female, medicine.symptom, Frontotemporal dementia, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, MESH: Spinocerebellar Ataxias, Ubiquitin-Protein Ligases, Neuropathology, 03 medical and health sciences, MESH: ATP-Dependent Proteases, Atrophy, Humans, Spinocerebellar Ataxias, Cognitive Dysfunction, 030304 developmental biology, cognitive impairment, SCAR16, STUB1, MESH: Humans, Cerebellar ataxia, business.industry, medicine.disease, MESH: Ubiquitin-Protein Ligases, MESH: Male, ATPases Associated with Diverse Cellular Activities, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Human medicine, business, MESH: Female, 030217 neurology & neurosurgery
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8Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
المؤلفون: 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
المصدر: Brain
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Induced Pluripotent Stem Cells, Cell Culture Techniques, Hereditary ataxia, Intellectual Disability, Intellectual disability, medicine, Spastic, Humans, Spinocerebellar Ataxias, Letters to the Editor, Genetic Association Studies, Aged, business.industry, Spastic Paraplegia, Hereditary, Spastic paraparesis, RNA Polymerase III, Exons, Middle Aged, medicine.disease, Introns, nervous system diseases, Pedigree, Optic Atrophy, Phenotype, Muscle Spasticity, Mutation (genetic algorithm), Paraparesis, Spastic, Mutation, Spinocerebellar ataxia, Female, Neurology (clinical), business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::422c9cbe3291b6923e7b15599d8c72f1
http://europepmc.org/articles/PMC6439323 -
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المؤلفون: Anne Kjersti Erichsen, Chantal M. E. Tallaksen, Christian Beetz, Amir Jahic, Thomas Deufel
المصدر: European journal of human genetics : EJHG. 24(9)
مصطلحات موضوعية: 0301 basic medicine, Genome instability, Spastin, Short Report, Alu element, Retrotransposon, Biology, 03 medical and health sciences, Exon, Chromosome Breakpoints, 0302 clinical medicine, Alu Elements, Genetics, Humans, Allele, Homologous Recombination, Genetics (clinical), Alleles, Adenosine Triphosphatases, Paraplegia, Polymorphism, Genetic, Spastic Paraplegia, Hereditary, Breakpoint, Haplotype, Exons, Mutagenesis, Insertional, 030104 developmental biology, Homologous recombination, 030217 neurology & neurosurgery, Gene Deletion
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10
المصدر: Journal of the Neurological Sciences. 277:124-129
مصطلحات موضوعية: Adult, Male, In vivo magnetic resonance spectroscopy, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Spastin, Hereditary spastic paraplegia, Verbal learning, Choline, Central nervous system disease, Degenerative disease, Internal medicine, medicine, Humans, Adenosine Triphosphatases, Aspartic Acid, California Verbal Learning Test, Spastic Paraplegia, Hereditary, business.industry, Motor Cortex, Middle Aged, Creatine, medicine.disease, Endocrinology, medicine.anatomical_structure, Neurology, Nerve Degeneration, Female, Neurology (clinical), Protons, Cognition Disorders, business, Neuroscience, Biomarkers, Inositol, Motor cortex