المؤلفون: Hayer, SN, Liepelt, I, Barro, C, Wilke, C, Kuhle, J, Martus, P, Schoels, L, Schulz, JB, Reetz, K, Fedosov, K, Didszun, C, Klockgether, T, Giordano, I, Pandolfo, M, Depondt, C, Rai, M, Boesch, S, Nachbauer, W, Eigentler, A, Indelicato, E, Giunti, P, Parkinson, M, Manso, K, Thomas-Black, G, Garcia-Moreno, H, Solanky, N, Abeti, R, Polke, J, Labrum, R, Garrido, RDRFJ, Mascias, J, Velasco, SS, Garcia, SS, Mariotti, C, Nanetti, L, Castaldo, A, Mongelli, A, Fichera, M, Klopstock, T, Karin, I, Stendel, C, Radelfahr, F, Durr, A, Biet, M, Charles, P, Ewenczyk, C, Just, J, Koutsis, G, Walsh, R, Bertini, E

المصدر: Journal of Neurology , 267 pp. 1420-1430. (2020)

مصطلحات موضوعية: Neurofilament light chain, NfL, Friedreich’s ataxia, Biomarker, Neurofilament heavy chain, pNfH

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10092217/1/Abeti__Article_NfLAndPNfHAreIncreasedInFriedr.pdf; https://discovery.ucl.ac.uk/id/eprint/10092217/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10092217/1/Abeti__Article_NfLAndPNfHAreIncreasedInFriedr.pdf
https://discovery.ucl.ac.uk/id/eprint/10092217/

المؤلفون: Husain, R.A., Grimmel, M., Wagner, M., Hennings, J.C., Marx, C., Feichtinger, R.G., Saadi, A., Rostásy, K., Radelfahr, F., Bevot, A., Döbler-Neumann, M., Hartmann, H., Colleaux, L., Cordts, I., Kobeleva, X., Darvish, H., Bakhtiari, S., Kruer, M.C., Besse, A., Ng, A.C.H., Chiang, D., Bolduc, F., Tafakhori, A., Mane, S., Ghasemi Firouzabadi, S., Huebner, A.K., Buchert, R., Beck-Woedl, S., Müller, A.J., Laugwitz, L., Nägele, T., Wang, Z.Q., Strom, T.M., Sturm, M., Meitinger, T., Klockgether, T., Riess, O., Klopstock, T., Brandl, U., Hübner, C.A., Deschauer, M., Mayr, J.A., Bonnen, P.E., Krägeloh-Mann, I., Wortmann, S.B., Haack, T.B.

المصدر: Am. J. Hum. Genet. 107, 364-373 (2020)

مصطلحات موضوعية: Developmental Delay, Encephalopathy, Exome Sequencing, Hereditary Spastic Paraplegia, Hpdl, Leigh-like Syndrome, Mitochondrial Metabolism, Movement Disorder

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/32707086; info:eu-repo/semantics/altIdentifier/wos/WOS:000558491800016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59885; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59885
https://doi.org/10.1016/j.ajhg.2020.06.015

المؤلفون: Radelfahr, F., Riedhammer, K.M., Keidel, L.F., Gramer, G., Meitinger, T., Klopstock, T., Wagner, M.

المصدر: Neurol. Genet. 6:e525 (2020)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000607814300009; info:eu-repo/semantics/altIdentifier/isbn/2376-7839; info:eu-repo/semantics/altIdentifier/pissn/2376-7839; info:eu-repo/seman; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61160; urn:isbn:2376-7839; urn:issn:2376-7839

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61160
https://doi.org/10.1212/NXG.0000000000000525

المؤلفون: Reetz, K, Dogan, I, Hilgers, R, Giunti, P, Parkinson, M, Mariotti, C, Nanetti, L, Durr, A, Ewenczyk, C, Boesch, S, Nachbauer, W, Klopstock, T, Stendel, C, Rodriguez de Rivera Garrido, F, Rummey, C, Schols, L, Hayer, S, Klockgether, T, Giordano, I, Didszun, C, Rai, M, Pandolfo, M, Schulz, J, Labrum, R, Thomas-Black, G, Manso, K, Solanky, N, Gellera, C, Mongelli, A, Castaldo, A, Fichera, M, Palau, F, O'Callaghan, M, Biet, M, Monin, M, Eigentler, A, Indelicato, E, Amprosi, M, Radelfahr, F, Bischoff, A, Holtbernd, F, Brcina, N, Hohenfeld, C, Koutsis, G, Breza, M, Bertini, E, Vasco, G, Reetz K., Dogan I., Hilgers R. -D., Giunti P., Parkinson M. H., Mariotti C., Nanetti L., Durr A., Ewenczyk C., Boesch S., Nachbauer W., Klopstock T., Stendel C., Rodriguez de Rivera Garrido F. J., Rummey C., Schols L., Hayer S. N., Klockgether T., Giordano I., Didszun C., Rai M., Pandolfo M., Schulz J. B., Labrum R., Thomas-Black G., Manso K., Solanky N., Gellera C., Mongelli A., Castaldo A., Fichera M., Palau F., O'Callaghan M., Biet M., Monin M. L., Eigentler A., Indelicato E., Amprosi M., Radelfahr F., Bischoff A. T., Holtbernd F., Brcina N., Hohenfeld C., Koutsis G., Breza M., Bertini E., Vasco G.

مصطلحات الفهرس: Adult, Cohort Studie, Europe, Female, Friedreich Ataxia, Human, Male, Middle Aged, Mobility Limitation, Registrie, Time Factor, Young Adult, Activities of Daily Living, Disease Progression, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/324955
info:eu-repo/semantics/altIdentifier/pmid/33770527
info:eu-repo/semantics/altIdentifier/wos/WOS:000717465200018
volume:20
issue:5
firstpage:362
lastpage:372
numberofpages:11
journal:LANCET NEUROLOGY

المؤلفون: Reetz K., Dogan I., Hilgers R. -D., Giunti P., Parkinson M. H., Mariotti C., Nanetti L., Durr A., Ewenczyk C., Boesch S., Nachbauer W., Klopstock T., Stendel C., Rodriguez de Rivera Garrido F. J., Rummey C., Schols L., Hayer S. N., Klockgether T., Giordano I., Didszun C., Rai M., Pandolfo M., Schulz J. B., Labrum R., Thomas-Black G., Manso K., Solanky N., Gellera C., Mongelli A., Castaldo A., Fichera M., Palau F., O'Callaghan M., Biet M., Monin M. L., Eigentler A., Indelicato E., Amprosi M., Radelfahr F., Bischoff A. T., Holtbernd F., Brcina N., Hohenfeld C., Koutsis G., Breza M., Bertini E., Vasco G.

المساهمون: Reetz, K, Dogan, I, Hilgers, R, Giunti, P, Parkinson, M, Mariotti, C, Nanetti, L, Durr, A, Ewenczyk, C, Boesch, S, Nachbauer, W, Klopstock, T, Stendel, C, Rodriguez de Rivera Garrido, F, Rummey, C, Schols, L, Hayer, S, Klockgether, T, Giordano, I, Didszun, C, Rai, M, Pandolfo, M, Schulz, J, Labrum, R, Thomas-Black, G, Manso, K, Solanky, N, Gellera, C, Mongelli, A, Castaldo, A, Fichera, M, Palau, F, O'Callaghan, M, Biet, M, Monin, M, Eigentler, A, Indelicato, E, Amprosi, M, Radelfahr, F, Bischoff, A, Holtbernd, F, Brcina, N, Hohenfeld, C, Koutsis, G, Breza, M, Bertini, E, Vasco, G

مصطلحات موضوعية: Adult, Cohort Studie, Europe, Female, Friedreich Ataxia, Human, Male, Middle Aged, Mobility Limitation, Registrie, Time Factor, Young Adult, Activities of Daily Living, Disease Progression

Relation: info:eu-repo/semantics/altIdentifier/pmid/33770527; info:eu-repo/semantics/altIdentifier/wos/WOS:000717465200018; volume:20; issue:5; firstpage:362; lastpage:372; numberofpages:11; journal:LANCET NEUROLOGY; http://hdl.handle.net/10281/324955; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103961796

الاتاحة: http://hdl.handle.net/10281/324955
https://doi.org/10.1016/S1474-4422(21)00027-2

المؤلفون: Radelfahr, F, Büchner, B, Klopstock, T

المصدر: Nervenheilkunde ; 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. ; ISSN 2567-5788

الاتاحة: http://dx.doi.org/10.1055/s-0039-1685057
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0039-1685057

المؤلفون: Lehmann-Horn, K, Radelfahr, F, Hemmer, B, Weber, MS

المساهمون: Neurologische Klinik und Poliklinik

مصطلحات موضوعية: info:eu-repo/classification/ddc

Relation: https://mediatum.ub.tum.de/1211719

الاتاحة: https://mediatum.ub.tum.de/1211719