نتائج البحث - "Chantal M. E. Tallaksen"

المساهمون: HUS Children and Adolescents, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Clinicum, Children's Hospital, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Lastenneurologian yksikkö, RS: MHeNs - R3 - Neuroscience, Klinische Genetica

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 7(10), 2019-2025. Wiley
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Tallaksen, C M E, Samsonsen, C, Brodtkorb, E, Ostergaard, E, de Coo, R, Pias-Peleteiro, L, Isohanni, P, Uusimaa, J, Darin, N, Rahman, S & Bindoff, L A 2020, ' The impact of gender, puberty, and pregnancy in patients with POLG disease ', Annals of Clinical and Translational Neurology, vol. 7, no. 10, pp. 2019-2025 . https://doi.org/10.1002/acn3.51199Test
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2019-2025 (2020)
Annals of clinical and translational neurology

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial Diseases, Physiology, Disease, DNA-POLYMERASE-GAMMA, MITOCHONDRIAL, 3124 Neurology and psychiatry, Epilepsy, 0302 clinical medicine, Pregnancy, NEUROSTEROIDS, LACTIC-ACIDOSIS, EPILEPSY, Research Articles, General Neuroscience, ENCEPHALOPATHY, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710, 3. Good health, DNA Polymerase gamma, Europe, Menarche, Female, medicine.symptom, RC321-571, Research Article, DISORDERS, Encephalopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, Status epilepticus, 03 medical and health sciences, medicine, Humans, RC346-429, Retrospective Studies, business.industry, MUTATIONS, Puberty, STROKE-LIKE EPISODES, 3112 Neurosciences, Retrospective cohort study, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710, medicine.disease, 030104 developmental biology, MODULATORS, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6f2fc475ae70ad1b8cec3d9017a09b1Test
http://europepmc.org/articles/PMC7545595Test

6

Long-term follow-up, quality of life, and survival of patients with Lambert-Eaton myasthenic syndrome

المؤلفون: Alexander F. Lipka, Jan J.G.M. Verschuuren, Maarten J. Titulaer, Chantal M. E. Tallaksen, Erik W. van Zwet, Marion I. Boldingh, Jan B. M. Kuks, Marco W.J. Schreurs

المساهمون: Immunology, Neurology

المصدر: Neurology
Neurology, 94(5), E511-E520. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 94, e511-e520. Lippincott Williams & Wilkins

مصطلحات موضوعية: Oncology, Male, Pediatrics, Lung Neoplasms, 0302 clinical medicine, Quality of life, Epidemiology, EPIDEMIOLOGY, Young adult, Stroke, Netherlands, Aged, 80 and over, education.field_of_study, Plasma Exchange, Middle Aged, humanities, 3. Good health, Survival Rate, Lambert-Eaton Myasthenic Syndrome, 030220 oncology & carcinogenesis, Female, Lambert-Eaton myasthenic syndrome, Immunosuppressive Agents, STROKE, Adult, medicine.medical_specialty, Adolescent, Long term follow up, Population, Antineoplastic Agents, Article, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, education, Survival rate, CALCIUM-CHANNEL ANTIBODIES, Aged, Neoplasm Staging, business.industry, Case-control study, Correction, medicine.disease, Small Cell Lung Carcinoma, INTERVIEW, GRAVIS, Case-Control Studies, Quality of Life, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d901dc1f051ffe063119a8df723ed695Test
https://doi.org/10.1212/WNL.0000000000008747Test

7

دورية أكاديمية

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

المؤلفون: Iselin Marie Wedding, Jeanette Koht, Gia Tuong Tran, Doriana Misceo, Kaja Kristine Selmer, Asbjørn Holmgren, Eirik Frengen, Laurence Bindoff, Chantal M E Tallaksen, Charalampos Tzoulis

المصدر: PLoS ONE, Vol 9, Iss 1, p e86340 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3899233?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/5f84c1ba73a843048d73e2691082dd82Test

View record in DOAJ

النص الكامل

8

Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5

المؤلفون: Siri Lynne Rydning, Jeanette Koht, Sjur Prestsæter, Chantal M. E. Tallaksen, Magnus Dehli Vigeland, Stian Tobias Juel Hoven, Foudil Lamari, Kaja Kristine Selmer

المساهمون: University of Oslo (UiO), Service de Biochimie Métabolique [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), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Oslo University Hospital [Oslo]

المصدر: Journal of the Neurological Sciences
Journal of the Neurological Sciences, Elsevier, 2020, 419, pp.117211. ⟨10.1016/j.jns.2020.117211⟩

مصطلحات موضوعية: Pathology, medicine.medical_specialty, MESH: Mutation, CYP7B1, Hereditary spastic paraplegia, MESH: Pedigree, [SDV]Life Sciences [q-bio], Physical examination, Norwegian, SPG5, Severity of Illness Index, 03 medical and health sciences, MESH: Brain, MESH: Hydroxycholesterols, 0302 clinical medicine, Pathognomonic, MESH: Severity of Illness Index, Hydroxycholesterols, medicine, Spastic, Humans, 030212 general & internal medicine, Genetic Testing, MESH: Spastic Paraplegia, Hereditary, MESH: Humans, medicine.diagnostic_test, MESH: Genetic Testing, business.industry, Spastic Paraplegia, Hereditary, Brain, Oxysterols, medicine.disease, language.human_language, 3. Good health, Pedigree, Neurology, Mutation, language, lipids (amino acids, peptides, and proteins), Neurology (clinical), Paraplegia, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d91fead76e35e08d66f75ec92963ff7eTest
https://pubmed.ncbi.nlm.nih.gov/33160247Test

9

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

المؤلفون: Irenaeus F.M. de Coo, Chantal M. E. Tallaksen, Claus Klingenberg, Omar Hikmat, Eylert Brodtkorb, Shamima Rahman, Leticia Pias-Peleteiro, Niklas Darin, Johanna Uusimaa, Laurence A. Bindoff, Karin Naess, Magnhild Rasmussen, Martin Engvall, Elsebet Ostergaard, Pirjo Isohanni

المساهمون: HUS Children and Adolescents, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Clinicum, Children's Hospital, Lastenneurologian yksikkö, University of Helsinki, Helsinki University Hospital Area, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, RS: MHeNs - R3 - Neuroscience, Toxicogenomics

المصدر: Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Tallaksen, C M E, Brodtkorb, E, Ostergaard, E, de Coo, I F M, Pias-Peleteiro, L, Isohanni, P, Uusimaa, J, Darin, N, Rahman, S & Bindoff, L A 2020, ' Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases ', Journal of Inherited Metabolic Disease, vol. 43, no. 4, pp. 726-736 . https://doi.org/10.1002/jimd.12211Test
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43(4), 726-736. Wiley

مصطلحات موضوعية: Male, Pediatrics, Mitochondrial Diseases, Disease, Compound heterozygosity, Epilepsy, 0302 clinical medicine, Medicine, Age of Onset, Child, Genetics (clinical), Aged, 80 and over, 0303 health sciences, 1184 Genetics, developmental biology, physiology, Middle Aged, DNA Polymerase gamma, 3. Good health, Europe, mitochondrial disease, POLG, Child, Preschool, Cohort, Female, medicine.symptom, Adult, medicine.medical_specialty, Ataxia, Adolescent, Young Adult, 03 medical and health sciences, Genetics, Humans, Genetic Predisposition to Disease, VDP::Medisinske Fag: 700, stroke-like episodes, Aged, Retrospective Studies, 030304 developmental biology, SPECTRUM, business.industry, MUTATIONS, 3112 Neurosciences, Infant, Retrospective cohort study, medicine.disease, Survival Analysis, Alpers syndrome, VDP::Medical disciplines: 700, Peripheral neuropathy, 3121 General medicine, internal medicine and other clinical medicine, Mutation, epilepsy, Age of onset, business, 030217 neurology & neurosurgery, PARKINSONISM

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcda542c894f53834d0ededa239040fbTest
http://urn.fi/urn:nbn:fi-fe2020082663174Test

10

دورية أكاديمية

Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population.

المؤلفون: Angelina H Maniaol, Ahmed Elsais, Åslaug R Lorentzen, Jone F Owe, Marte K Viken, Hanne Sæther, Siri T Flåm, Geir Bråthen, Margitta T Kampman, Rune Midgard, Marte Christensen, Anna Rognerud, Emilia Kerty, Nils Erik Gilhus, Chantal M E Tallaksen, Benedicte A Lie, Hanne F Harbo

المصدر: PLoS ONE, Vol 7, Iss 5, p e36603 (2012)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22590574/?tool=EBITest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/edbb9d2aa7fa423cb723be038e69af08Test

الإتاحة: https://doi.org/10.1371/journal.pone.0036603Test
https://doaj.org/article/edbb9d2aa7fa423cb723be038e69af08Test

View record in BASE

النص الكامل

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