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1Academic Journal
المؤلفون: ZHU Xiaowei, ZHONG Ping, CAO Li, LUAN Xinghua
المصدر: Shanghai Jiaotong Daxue xuebao. Yixue ban, Vol 43, Iss 3, Pp 350-357 (2023)
مصطلحات موضوعية: charcot-marie-tooth disease (cmt), cerebellar ataxia, gene mutation, neurofilament light chain (nefl), morc family cw-type zinc finger 2 (morc2), Medicine
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Julius Järvilehto, Sandra Harjuhaahto, Edouard Palu, Mari Auranen, Jouni Kvist, Henrik Zetterberg, Johanna Koskivuori, Marko Lehtonen, Anna Maija Saukkonen, Manu Jokela, Emil Ylikallio, Henna Tyynismaa
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: biomarker, NEFL, CHCHD10, SMAJ, creatine, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Hye Jin Kim, Sang Beom Kim, Hyun Su Kim, Hye Mi Kwon, Jae Hong Park, Ah Jin Lee, Si On Lim, Soo Hyun Nam, Young Bin Hong, Ki Wha Chung, Byung‐Ok Choi
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 2, Pp n/a-n/a (2022)
مصطلحات موضوعية: Charcot–Marie–Tooth disease, heterogeneity, NEFL, phenotype, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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4Academic Journal
المؤلفون: Järvilehto, Julius, Harjuhaahto, Sandra, Palu, Edouard, Auranen, Mari, Kvist, Jouni, Zetterberg, Henrik, Koskivuori, Johanna, Lehtonen, Marko, Saukkonen, Anna Maija, Jokela, Manu, Ylikallio, Emil, Tyynismaa, Henna
المساهمون: STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Department of Neurosciences, HUS Neurocenter, Neurologian yksikkö, Clinicum, Centre of Excellence in Stem Cell Metabolism, Department of Medical and Clinical Genetics, Research Programs Unit, Henna Tyynismaa / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE
مصطلحات موضوعية: biomarker, NEFL, CHCHD10, SMAJ, creatine, MOTOR NEURONOPATHY, CHAIN, DISEASE, Neurosciences, Neurology and psychiatry
وصف الملف: application/pdf
Relation: & nbsp;This study was supported by the Academy of Finland, University of Helsinki, Emil Aaltonen Foundation, Sigrid Juselius Foundation, Neurocenter Finland, and HUS Helsinki University Hospital VTR funds. HZ is a Wallenberg scholar supported by grants from the Swedish Research Council (#2018-02532), the European Research Council (#681712), Swedish State Support for Clinical Research (#ALFGBG-720931), the Alzheimer Drug Discovery Foundation (ADDF), USA (#201809-2016862), the AD Strategic Fund and the Alzheimer's Association (#ADSF-21-831376-C, #ADSF-21-831381-C, and #ADSF-21-831377-C), the Olav Thon Foundation, the Erling-Persson Family Foundation, Stiftelsen foer Gamla Tjaenarinnor, Hjaernfonden, Sweden (#FO2019-0228), the European Union's Horizon 2020 research and innovation program under the Marie Sklodowska-Curie grant agreement No. 860197 (MIRIADE) and the UK Dementia Research Institute at UCL.; Järvilehto , J , Harjuhaahto , S , Palu , E , Auranen , M , Kvist , J , Zetterberg , H , Koskivuori , J , Lehtonen , M , Saukkonen , A M , Jokela , M , Ylikallio , E & Tyynismaa , H 2022 , ' Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy ' , Frontiers in neurology , vol. 13 , 793937 . https://doi.org/10.3389/fneur.2022.793937; ORCID: /0000-0002-2493-2422/work/111172960; ORCID: /0000-0001-5178-0703/work/111173702; http://hdl.handle.net/10138/342378; d0345d54-767e-46ff-bd6f-d918d96b0468; 000765057200001
الاتاحة: http://hdl.handle.net/10138/342378
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5Academic Journal
المؤلفون: Jaervilehto, Julius, Harjuhaahto, Sandra, Palu, Edouard, Auranen, Mari, Kvist, Jouni, Zetterberg, Henrik, Koskivuori, Johanna, Lehtonen, Marko, Saukkonen, Anna Maija, Jokela, Manu, Ylikallio, Emil, Tyynismaa, Henna
المصدر: Frontiers in Neurology , 13 , Article 793937. (2022)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, biomarker, NEFL, CHCHD10, SMAJ, creatine, MOTOR NEURONOPATHY, CHAIN, DISEASE
وصف الملف: application/pdf
Relation: https://discovery.ucl.ac.uk/id/eprint/10146081/1/fneur-13-793937.pdf; https://discovery.ucl.ac.uk/id/eprint/10146081/
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6Academic Journal
المؤلفون: Mingjuan Cao, Yuqing Fang, Wei Jia, Yao Wang, Jingyi Sun, Dingbo Tao
المصدر: Artificial Cells, Nanomedicine, and Biotechnology, Vol 47, Iss 1, Pp 2678-2687 (2019)
مصطلحات موضوعية: Emodin, microRNA-25, neurofilament light-chain polypeptide gene (NEFL), mTOR, Notch, Biotechnology, TP248.13-248.65, Medical technology, R855-855.5
وصف الملف: electronic resource
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7Academic Journal
المؤلفون: Alessandra Colciago, Matteo Audano, Veronica Bonalume, Valentina Melfi, Tasnim Mohamed, Adam J. Reid, Alessandro Faroni, Peter A. Greer, Nico Mitro, Valerio Magnaghi
المساهمون: A.M. Colciago, M. Audano, V. Bonalume, V. Melfi, T. Mohamed, A.J. Reid, A. Faroni, P.A. Greer, N. Mitro, V. Magnaghi
مصطلحات موضوعية: GJB2, NEFL, NF2, OTOGL, REST, Schwann cell, TPRN, hearing loss, Settore BIO/09 - Fisiologia, Settore MED/04 - Patologia Generale, Settore BIO/14 - Farmacologia
Relation: info:eu-repo/semantics/altIdentifier/pmid/34360009; info:eu-repo/semantics/altIdentifier/wos/WOS:000676188100001; volume:10; issue:7; firstpage:1; lastpage:14; numberofpages:14; journal:CELLS; http://hdl.handle.net/2434/864329; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114068859
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8Academic Journal
المؤلفون: Colciago, Alessandra, Audano, Matteo, Bonalume, Veronica, Melfi, Valentina, Mohamed, Tasnim, Reid, Adam J., Faroni, Alessandro, Greer, Peter A., Mitro, Nico, Magnaghi, Valerio
المصدر: eissn: 2073-4409
مصطلحات موضوعية: Schwann cell, NF2, GJB2, hearing loss, NEFL, TPRN, OTOGL, REST
Relation: https://chesterrep.openrepository.com/bitstream/handle/10034/625351/cells-10-01840-v2.pdf?sequence=2; https://chesterrep.openrepository.com/bitstream/handle/10034/625351/additional-files.zip?sequence=3; https://chesterrep.openrepository.com/bitstream/handle/10034/625351/cells-10-01840.xml?sequence=4; Cells, volume 10, issue 7, page e1840; http://hdl.handle.net/10034/625351
الاتاحة: http://hdl.handle.net/10034/625351
https://chesterrep.openrepository.com/bitstream/handle/10034/625351/cells-10-01840-v2.pdf?sequence=2
https://chesterrep.openrepository.com/bitstream/handle/10034/625351/additional-files.zip?sequence=3
https://chesterrep.openrepository.com/bitstream/handle/10034/625351/cells-10-01840.xml?sequence=4 -
9Academic Journal
المؤلفون: Demy, Doris Lou, Campanari, Maria Letizia, Munoz-Ruiz, Raphael, Durham, Heather, D, Gentil, Benoit, J, Kabashi, Edor
المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Montreal Neurological Institute and Hospital, McGill University = Université McGill Montréal, Canada
المصدر: ISSN: 2073-4409 ; Cells ; https://hal.sorbonne-universite.fr/hal-03152405 ; Cells, 2020, 9 (5), pp.1238. ⟨10.3390/cells9051238⟩.
مصطلحات موضوعية: amyotrophic lateral sclerosis (ALS), neurofilament light (NEFL), TDP-43, neurofilaments (NFs), zebrafish, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/32429483; PUBMED: 32429483; PUBMEDCENTRAL: PMC7291018
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10Academic Journal
المؤلفون: E. L. Dadali, A. Kh.-M. Маkаоv, V. A. Galkina, F. A. Konovalov, A. V. Polyakov, M. V. Bulakh, R. A. Zinchеnkо
المصدر: Нервно-мышечные болезни, Vol 6, Iss 2, Pp 47-51 (2016)
مصطلحات موضوعية: hereditary motor and sensory neuropathy, charcot–marie–tooth disease type 2е, karachay-cherkessia, nefl, missense mutation с.65g>t, exsome sequencing, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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11Academic Journal
المؤلفون: Petrucci, Antonio, Lispi, Ludovico, Garibaldi, Matteo, Frezza, Erika, Moro, Francesca, Massa, Roberto, Santorelli, Filippo Maria
المساهمون: Petrucci, Antonio, Lispi, Ludovico, Garibaldi, Matteo, Frezza, Erika, Moro, Francesca, Massa, Roberto, Santorelli, Filippo Maria
Relation: info:eu-repo/semantics/altIdentifier/pmid/36809754; info:eu-repo/semantics/altIdentifier/wos/WOS:000936878900001; journal:EUROPEAN NEUROLOGY; https://hdl.handle.net/11573/1676835; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164250246
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12Academic Journal
المؤلفون: Lemée, Jean-Michel, Clavreul, Anne, Aubry, Marc, Com, Emmanuelle, de Tayrac, Marie, Mosser, Jean, Menei, Philippe
المساهمون: Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Design and Application of Innovative Local Treatments in Glioblastoma (CRCINA-ÉQUIPE 17), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Génomique Environnementale et Humaine (GEH), Université de Rennes (UR), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Proteomics Core Facility (Protim), Université de Rennes (UR)-Plateforme Génomique Santé Biogenouest®, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou
المصدر: EISSN: 1471-2199 ; BMC Molecular Biology ; https://univ-rennes.hal.science/hal-01940252 ; BMC Molecular Biology, 2018, 19 (1), pp.13. ⟨10.1186/s12867-018-0115-6⟩
مصطلحات موضوعية: Proteomics, SYN1, NEFL, TOPORS, Transcriptomics, Molecular biology, Glioblastoma, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
Relation: info:eu-repo/semantics/altIdentifier/pmid/30463513; hal-01940252; https://univ-rennes.hal.science/hal-01940252; https://univ-rennes.hal.science/hal-01940252/document; https://univ-rennes.hal.science/hal-01940252/file/s12867-018-0115-6; PUBMED: 30463513
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13Academic Journal
المؤلفون: Center for Translational Research in Neurodegenerative Disease, College of Medicine, University of Florida, Gainesville, FL 32610, USA ( host institution ), Rutherford, Nicola J. ( UF author ), Brooks, Mieu ( UF author ), Riffe, Cara J. ( UF author ), Gorion, Kimberly-Marie M. ( UF author ), Howard, Jasie K. ( UF author ), Dhillon, Jess-Karan S. ( UF author ), Giasson, Benoit I. ( UF author )
مصطلحات موضوعية: Neurofilaments, α-Synuclein, NFL gene (NEFL) knockout, Parkinson’s disease, Transgenic mice, Synucleinopathy
وصف الملف: Pages 114-120
Relation: Neuroscience Letters; S0304394017308066; http://ufdc.ufl.edu/LS00592868/00001
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14Academic Journal
المؤلفون: Horga, A, Laurà, M, Jaunmuktane, Z, Jerath, NU, Gonzalez, MA, Polke, JM, Poh, R, Blake, JC, Liu, Y-T, Wiethoff, S, Bettencourt, C, Lunn, MP, Manji, H, Hanna, MG, Houlden, H, Brandner, S, Züchner, S, Shy, M, Reilly, MM
المصدر: Journal of Neurology, Neurosurgery and Psychiatry , 88 (7) pp. 575-585. (2017)
مصطلحات موضوعية: NEFL, charcot-Marie-Tooth disease, neurofilament light polypeptide, whole-exome sequencing
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/1556901/1/Brandner_A_Manuscript.pdf; https://discovery.ucl.ac.uk/id/eprint/1556901/
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15
المؤلفون: Benoit J. Gentil, María Letizia Campanari, Edor Kabashi, Raphael Munoz-Ruiz, Doris Lou Demy, Heather D. Durham
المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), 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], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], Gestionnaire, Hal Sorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Cells
Cells, MDPI, 2020, 9 (5), pp.1238. ⟨10.3390/cells9051238⟩
Cells, Vol 9, Iss 1238, p 1238 (2020)
Cells, 2020, 9 (5), pp.1238. ⟨10.3390/cells9051238⟩
Volume 9
Issue 5مصطلحات موضوعية: 0301 basic medicine, Gene isoform, Embryo, Nonmammalian, Neurofilament, amyotrophic lateral sclerosis (ALS), TDP-43, RNA Splicing, [SDV]Life Sciences [q-bio], Motor Activity, Primary transcript, TARDBP, Article, Cell Line, Polymerization, 03 medical and health sciences, 0302 clinical medicine, neurofilament light (NEFL), neurofilaments (NFs), Neurofilament Proteins, Animals, Humans, Cytoskeleton, Intermediate filament, Postural Balance, lcsh:QH301-705.5, Zebrafish, Motor Neurons, Sequence Homology, Amino Acid, biology, Chemistry, Gene Expression Regulation, Developmental, General Medicine, Zebrafish Proteins, biology.organism_classification, zebrafish, Axons, Cell biology, DNA-Binding Proteins, [SDV] Life Sciences [q-bio], Phenotype, 030104 developmental biology, lcsh:Biology (General), RNA splicing, Atrophy, amyotrophic lateral sclerosis (ALS), neurofilament light (NEFL), TDP-43, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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16Academic Journal
المؤلفون: Mario Capasso, Diskin, Sharon, Cimmino, Flora, Acierno, Giovanni, Totaro, Francesca, Petrosino, Giuseppe, Diamond, Maura, Mcdaniel, Lee, Hakonarson, Hakon, Iolascon, Achille, Devoto, Marcella, Maris, John M., PEZONE, Lucia
المساهمون: Mario, Capasso, Diskin, Sharon, Cimmino, Flora, Acierno, Giovanni, Totaro, Francesca, Petrosino, Giuseppe, Pezone, Lucia, Diamond, Maura, Mcdaniel, Lee, Hakonarson, Hakon, Iolascon, Achille, Devoto, Marcella, Maris, John, M.
مصطلحات موضوعية:
"NEFL" "neuroblastoma" وصف الملف: ELETTRONICO
Relation: volume:74; issue:23; firstpage:6913; lastpage:6924; numberofpages:13; journal:CANCER RESEARCH; http://hdl.handle.net/11562/938447
الاتاحة: http://hdl.handle.net/11562/938447
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17Academic Journal
المصدر: International Journal of Molecular Sciences, Vol 15, Iss 9, Pp 15592-15602 (2014)
مصطلحات موضوعية: reporter gene assay, miRNA, normalization, NEFL (neurofilament), Biology (General), QH301-705.5, Chemistry, QD1-999
Relation: http://www.mdpi.com/1422-0067/15/9/15592; https://doaj.org/toc/1422-0067; https://doaj.org/article/914d4c3a70f940d3bf9a391b90b196e9
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18
المؤلفون: Rita, Machado, Jorge, Pinto-Basto, Luís, Negrão
المصدر: Acta Myologica
مصطلحات موضوعية: Male, Portugal, Mutation, Missense, Peripheral Nervous System Diseases, Original Articles, Middle Aged, Pedigree, Phenotype, CMT type 2E, Charcot-Marie-Tooth Disease, Neurofilament Proteins, Neurofilament light gene mutation, Humans, Female, NEFL gene, NEFL Tyr265Cys mutation, Aged
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19Academic Journal
المؤلفون: Anitha Ayyappan, Nakamura Kazuhiko, Thanseem Ismail, Yamada Kazuo, Iwayama Yoshimi, Toyota Tomoko, Matsuzaki Hideo, Miyachi Taishi, Yamada Satoru, Tsujii Masatsugu, Tsuchiya Kenji J, Matsumoto Kaori, Iwata Yasuhide, Suzuki Katsuaki, Ichikawa Hironobu, Sugiyama Toshiro, Yoshikawa Takeo, Mori Norio
المصدر: Molecular Autism, Vol 3, Iss 1, p 12 (2012)
مصطلحات موضوعية: Autism, Mitochondria, Postmortem brain, NEFL, Uncoupling protein, Metaxin, Neurology. Diseases of the nervous system, RC346-429
Relation: http://www.molecularautism.com/content/3/1/12; https://doaj.org/toc/2040-2392; https://doaj.org/article/fec0f6307e854171a6972fa30157be52
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20Academic Journal
المؤلفون: Petzold, A, Altintas, A, Laura, C, Bartos, A, Achim, F, Blankenstein, MA, Luc, H, Castellazzi, M, Cepok, S, Comabella, M, Constantinescu, CS, Deisenhammer, F, Deniz, G, Gaye, M, Espino, M, Fainardi, E, Franciotta, D, Freedman, MS, Giedraitis, V, Gilhus, NE, Giovannoni, G, Glabinski, A, Grieb, P, Hartung, HP, Hemmer, B, Herukka, SK, Hintzen, R, Ingelsson, M, Jackson, S, Jacobsen, S, Jafari, N, Jalosinski, M, Jarius, S, Kapaki, E, Bernd, CV, Koel-Simmelink, MJA, Kornhuber, J, Kuhle, J, Kurzepa, J, Lalive, PH, Lannfelt, L, Lehmensiek, V, Lewczuk, P, Livrea, P, Marnetto, F, Martino, D, Menge, T, Norgren, N, Papuc, E, Paraskevas, GP, Pirttila, T, Rajda, C, Rejdak, K, Ricny, J, Ripova, D, Rosengren, L, Ruggieri, M, Schraen, S, Shaw, G, Sindic, C, Siva, A, Stigbrand, T, Stonebridge, I, Topcular, B, Trojano, M, Tumani, H, Twaalfhoven, HAM, Vecsei, L, Van Pesch, V, Vanderstichele, H, Vedeler, C, Verbeek, MM, Villar, LM, Weissert, R, Wildemann, B, Yang, C, Yao, K, Teunissen, CE
المصدر: J IMMUNOL METHODS , 352 (1-2) 23 - 31. (2010)
مصطلحات موضوعية: Neurofilament, NfL, NF-L, NEFL, Biomarker, Validation, NEUROCHEMICAL DEMENTIA DIAGNOSTICS, CEREBROSPINAL-FLUID, ALZHEIMERS-DISEASE, MULTIPLE-SCLEROSIS, MARKERS, CSF, DEGENERATION, SUBUNIT, PROTEIN, ASSAYS
وصف الملف: application/pdf
Relation: https://discovery.ucl.ac.uk/id/eprint/95615/1/nf-validation-PR-v6.pdf; https://discovery.ucl.ac.uk/id/eprint/95615/