المؤلفون: Pilotto, Andrea, Zipser, Carl M, Schulte, Claudia, Deuschle, Christian, Hauser, Ann Kathrin, Hoffmann, Georg F, Scheffler, Klaus, van Spronsen, Francjan J, Padovani, Alessandro, Trefz, Friedrich, Berg, Daniela, Leks, Edytha, Haas, Dorothea, Gramer, Gwendolyn, Freisinger, Peter, Schaeffer, Eva, Liepelt-Scarfone, Inga, Brockmann, Kathrin, Maetzler, Walter

المصدر: Neurology 96(3), e399 - e411 (2021). doi:10.1212/WNL.0000000000011088

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Atrophy: blood, Atrophy: diagnostic imaging, Atrophy: psychology, Cognition: physiology, Cross-Sectional Studies, Evoked Potentials, Motor: physiology, Female, Humans, Magnetic Resonance Imaging, Male, Neuropsychological Tests, Phenylalanine: blood, Phenylketonurias: blood, Phenylketonurias: diagnostic imaging, Phenylketonurias: psychology, Prospective Studies, Putamen: diagnostic imaging, Thalamus: diagnostic imaging, Phenylalanine

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/pmid/pmid:33093221; info:eu-repo/semantics/altIdentifier/issn/0028-3878; https://pub.dzne.de/record/155816; https://pub.dzne.de/search?p=id:%22DZNE-2021-00976%22

الاتاحة: https://pub.dzne.de/record/155816
https://pub.dzne.de/search?p=id:%22DZNE-2021-00976%22

المساهمون: Ji E. Lee, Sook K. Song, Young H. Sohn, Phil Hyu Lee, Sohn, Young Ho, Lee, Ji Eun, Lee, Phil Hyu

مصطلحات موضوعية: Enzyme Assays, Female, Humans, Male, Middle Aged, Multiple System Atrophy/blood, Prospective Studies, Regression Analysis, Seasons, Uric Acid/blood, rapid eye movement sleep behavior dis-order, Parkinson�셲 disease, autonomic

وصف الملف: 1533~1536

Relation: MOVEMENT DISORDERS; J02275; OAK-2011-00965; https://ir.ymlib.yonsei.ac.kr/handle/22282913/93491; T201102396; MOVEMENT DISORDERS, Vol.26(8) : 1533-1536, 2011

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/93491
https://doi.org/10.1002/mds.23556
http://onlinelibrary.wiley.com/doi/10.1002/mds.23556/abstract

المساهمون: Phil Hyu Lee, Tae Sung Lim, Hae-Won Shin, Seok Woo Yong, Hyo Suk Nam, Young H. Sohn, Nam, Hyo Suk, Sohn, Young Ho, Lee, Phil Hyu

مصطلحات موضوعية: Aged, Case-Control Studies, Cholesterol/blood, Cholesterol, HDL, LDL, Female, Humans, Male, Middle Aged, Multiple System Atrophy/blood, Multiple System Atrophy/etiology, Odds Ratio, Retrospective Studies, Risk Factors, Severity of Illness Index, Statistics as Topic, multiple system atrophy, total cholesterol, HDL�릀holesterol

وصف الملف: 752~758

Relation: MOVEMENT DISORDERS; J02275; OAK-2009-00551; https://ir.ymlib.yonsei.ac.kr/handle/22282913/103891; T200901299; MOVEMENT DISORDERS, Vol.24(5) : 752-758, 2009

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/103891
https://doi.org/10.1002/mds.22459
http://onlinelibrary.wiley.com/doi/10.1002/mds.22459/abstract

المساهمون: P. H. Lee, G. Lee, H. J. Park, O. Y. Bang, I. S. Joo, K. Huh, Lee, Phil Hyu

مصطلحات موضوعية: Adult, Enzyme-Linked Immunosorbent Assay, Female, Humans, Male, Middle Aged, Multiple System Atrophy/blood, Parkinson Disease/blood, alpha-Synuclein/blood, 慣-Synuclein, Parkinson�셲 disease, multiple system atrophy

وصف الملف: 1435~1439

Relation: JOURNAL OF NEURAL TRANSMISSION; J01619; OAK-2006-02071; https://ir.ymlib.yonsei.ac.kr/handle/22282913/110811; http://link.springer.com/article/10.1007%2Fs00702-005-0427-9; T200602984; JOURNAL OF NEURAL TRANSMISSION, Vol.113(10) : 1435-1439, 2006

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/110811
https://doi.org/10.1007/s00702-005-0427-9
http://link.springer.com/article/10.1007%2Fs00702-005-0427-9

المؤلفون: Palleis, Carla, Morenas Rodriguez, Estrella, Murcia, Francisco Jesús Martínez, Giese, Armin, Nuscher, Brigitte, Haass, Christian, Höglinger, Günter, Bötzel, Kai, Levin, Johannes

المصدر: Clinical neurology and neurosurgery 195, 105924 (2020). doi:10.1016/j.clineuro.2020.105924

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Aged, Biomarkers: blood, Disability Evaluation, Disease Progression, Humans, Intermediate Filaments, Male, Multiple System Atrophy: blood, Multiple System Atrophy: complications, Neurofilament Proteins: blood, Biomarker, MSA, Neurodegeneration, NfL, UMSARS

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:32512475; info:eu-repo/semantics/altIdentifier/issn/1872-6968; info:eu-repo/semantics/altIdentifier/issn/0303-8467; https://pub.dzne.de/record/154684; https://pub.dzne.de/search?p=id:%22DZNE-2021-00305%22

الاتاحة: https://pub.dzne.de/record/154684
https://pub.dzne.de/search?p=id:%22DZNE-2021-00305%22

المؤلفون: Waern, E

المصدر: Nordisk Geriatrik. (1):10

المؤلفون: Wilke, Carlo, Bender, Friedemann, Hayer, Stefanie N, Brockmann, Kathrin, Schöls, Ludger, Kuhle, Jens, Synofzik, Matthis

المصدر: Journal of neurology 265(7), 1618-1624 (2018). doi:10.1007/s00415-018-8893-9

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Aged, Ataxins: genetics, Case-Control Studies, Cerebellum: pathology, Female, Humans, Male, Middle Aged, Multiple System Atrophy: blood, Multiple System Atrophy: genetics, Multiple System Atrophy: pathology, Neurofilament Proteins: blood, Pilot Projects, ROC Curve, Trinucleotide Repeat Expansion: genetics, Ataxins, Neurofilament Proteins, neurofilament protein L

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0939-1517; info:eu-repo/semantics/altIdentifier/issn/1432-1459; info:eu-repo/semantics/altIdentifier/issn/0340-5354; info:eu-repo/semantics/altIdentifier/issn/0367-004x; info:eu-repo/semantics/altIdentifier/issn/1619-800X; info:eu-repo/semantics/altIdentifier/issn/0012-1037; info:eu-repo/semantics/altIdentifier/pmid/pmid:29737427; https://pub.dzne.de/record/140036; https://pub.dzne.de/search?p=id:%22DZNE-2020-06358%22

الاتاحة: https://pub.dzne.de/record/140036
https://pub.dzne.de/search?p=id:%22DZNE-2020-06358%22

المؤلفون: Thiessen, Steven E, Derde, Sarah, Derese, Inge, Dufour, Thomas, Vega, Chloé Albert, Langouche, Lies, Goossens, Chloë, Peersman, Nele, Vermeersch, Pieter, Vander Perre, Sarah, Holst, Jens J, Wouters, Pieter J, Vanhorebeek, Ilse, Van den Berghe, Greet

المصدر: Thiessen , S E , Derde , S , Derese , I , Dufour , T , Vega , C A , Langouche , L , Goossens , C , Peersman , N , Vermeersch , P , Vander Perre , S , Holst , J J , Wouters , P J , Vanhorebeek , I & Van den Berghe , G 2017 , ' Role of Glucagon in Catabolism and Muscle Wasting of Critical Illness and Modulation by Nutrition ' , American Journal of Respiratory and Critical Care Medicine , vol. 196 , no. 9 , pp. 1131-1143 ....

مصطلحات موضوعية: Aged, Amino Acids/blood, Animals, Blood Glucose, Critical Illness, Disease Models, Animal, Female, Glucagon/blood, Glucose/administration & dosage, Humans, Insulin/administration & dosage, Male, Mice, Middle Aged, Muscular Atrophy/blood, Parenteral Nutrition/methods, Treatment Outcome

الاتاحة: https://researchprofiles.ku.dk/da/publications/role-of-glucagon-in-catabolism-and-muscle-wasting-of-critical-illness-and-modulation-by-nutrition(ef860e75-cbba-4c63-b605-d6fd8f9e6b55).html
https://doi.org/10.1164/rccm.201702-0354OC

المؤلفون: Zazo Seco, Celia, Castells-Nobau, Anna, Joo, Seol-Hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M, Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P, Khor, Chiea Chuen, Göpfert, Martin C, Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima

المصدر: Zazo Seco , C , Castells-Nobau , A , Joo , S-H , Schraders , M , Foo , J N , van der Voet , M , Velan , S S , Nijhof , B , Oostrik , J , de Vrieze , E , Katana , R , Mansoor , A , Huynen , M , Szklarczyk , R , Oti , M , Tranebjærg , L , van Wijk , E , Scheffer-de Gooyert , J M , Siddique , S , Baets , J , de Jonghe , P , Kazmi , S A R , Sadananthan , S A , van de Warrenburg , B P , Khor , C C , Göpfert , M C , Qamar , R , Schenck , A , Kremer , H & Siddiqi , S 2017 , ' A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy ' , Disease models & mechanisms , vol. 10 , pp. 105-118 .

مصطلحات الفهرس: Adiposity, Animals, Audiometry, Pure-Tone, Base Sequence, Child, Codon, Nonsense/genetics, Deaf-Blind Disorders/blood, Disease Models, Animal, Drosophila Proteins/genetics, Drosophila melanogaster/genetics, Dystonia/blood, Female, Gene Expression Regulation, Gene Knockdown Techniques, HEK293 Cells, Hearing Loss/genetics, Homozygote, Humans, Ichthyosis/complications, Intellectual Disability/blood, Lipid Droplets/metabolism, Liver/metabolism, Locomotion, Male, Membrane Proteins/genetics, Motor Activity, Mutation/genetics, Optic Atrophy/blood, Pedigree, Sensory Receptor Cells/pathology, Whole Exome Sequencing, Young Adult, article

URL: https://curis.ku.dk/portal/da/publications/a-homozygous-fitm2-mutation-causes-a-deafnessdystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy(fd1f9f13-22ed-4945-a536-26993cf362b5).html
https://doi.org/10.1242/dmm.026476
https://curis.ku.dk/ws/files/195549380/105.full.pdf