المؤلفون: Kaiyrzhanov, R., Mohammed, S.E.M., Maroofian, R., Husain, R.A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R.G., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S., Bai, R., Bibi, F., Horga, A., Martinez-Agosto, J.A., Lam, A., Manole, A., Rodriguez, D.P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J.A., Bertini, E.S., Ghezzi, D., Østergaard, E., Wortmann, S., Carrozzo, R., Haack, T.B., Taylor, R.W., Spinazzola, A., Nowikovsky, K., Houlden, H.

المصدر: Am. J. Hum. Genet. 109, 1692-1712 (2022)

مصطلحات موضوعية: Genetics, Letm1, Mitochondria, Mitochondrial Diseases, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Wolf-hirschhorn Syndrome

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36055214; info:eu-repo/semantics/altIdentifier/wos/WOS:000877624100011; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.007Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test

المؤلفون: Traschutz A., Schirinzi T., Laugwitz L., Murray N. H., Bingman C. A., Reich S., Kern J., Heinzmann A., Vasco G., Bertini E., Zanni G., Durr A., Magri S., Taroni F., Malandrini A., Baets J., de Jonghe P., de Ridder W., Bereau M., Demuth S., Ganos C., Basak A. N., Hanagasi H., Kurul S. H., Bender B., Schols L., Grasshoff U., Klopstock T., Horvath R., van de Warrenburg B., Burglen L., Rougeot C., Ewenczyk C., Koenig M., Santorelli F. M., Anheim M., Munhoz R. P., Haack T., Distelmaier F., Pagliarini D. J., Puccio H., Synofzik M.

المساهمون: Traschutz, A., Schirinzi, T., Laugwitz, L., Murray, N. H., Bingman, C. A., Reich, S., Kern, J., Heinzmann, A., Vasco, G., Bertini, E., Zanni, G., Durr, A., Magri, S., Taroni, F., Malandrini, A., Baets, J., de Jonghe, P., de Ridder, W., Bereau, M., Demuth, S., Ganos, C., Basak, A. N., Hanagasi, H., Kurul, S. H., Bender, B., Schols, L., Grasshoff, U., Klopstock, T., Horvath, R., van de Warrenburg, B., Burglen, L., Rougeot, C., Ewenczyk, C., Koenig, M., Santorelli, F. M., Anheim, M., Munhoz, R. P., Haack, T., Distelmaier, F., Pagliarini, D. J., Puccio, H., Synofzik, M.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32337771; info:eu-repo/semantics/altIdentifier/wos/WOS:000539105500001; volume:88; issue:2; firstpage:251; lastpage:263; numberofpages:13; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11365/1128531Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086169325

الإتاحة: https://doi.org/10.1002/ana.25751Test
http://hdl.handle.net/11365/1128531Test

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

العلاقة: 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=59885Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

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

المؤلفون: Lenz, D., Smith, D.E.C., Crushell, E., Husain, R.A., Salomons, G.S., Alhaddad, B., Bernstein, J.A., Bianzano, A., Biskup, S., Brennenstuhl, H., Caldari, D., Dikow, N., Haack, T.B., Hanson-Kahn, A., Harting, I., Horn, D., Hughes, J., Huijberts, M., Isidor, B., Kathemann, S., Kopajtich, R., Kotzaeridou, U., Küry, S., Lainka, E., Laugwitz, L., Lupski, J.R., Posey, J.E., Reynolds, C., Rosenfeld, J.A., Schröter, J., Vansenne, F., Wagner, M., Weiß, C., Wolffenbuttel, B.H.R., Wortmann, S.B., Kölker, S., Hoffmann, G.F., Prokisch, H., Mendes, M.I., Staufner, C.

المصدر: Genet. Med. 22, 1863-1873 (2020)

مصطلحات موضوعية: Lars1, Infantile Liver Failure Syndrome Type 1, Acute Liver Failure, Aminoacyl-trna Synthetase Deficiency, Metabolic Stroke

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32699352; info:eu-repo/semantics/altIdentifier/wos/WOS:000551406500001; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59757Test; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الإتاحة: https://doi.org/10.1038/s41436-020-0904-4Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59757Test

المؤلفون: Gröschel, S., Fumagalli, F., Calbi, V., Zambon, A., Gallo, V., Reupero, S., Baldoli, C., Laugwitz, L., Essing, M., Chanson, C., Richardson, A., Brooks, J., Janzen, N., Kasper, D., Lang, P., Aiuti, A.

المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p

مصطلحات موضوعية: NEWBORN screening, GENE therapy, LYSOSOMAL storage diseases, COGNITION disorders, EARLY diagnosis

مصطلحات جغرافية: MILAN (Italy)

المؤلفون: Santhanakumaran, V., Pechan, M., Knauer, V., Merkel, G., Böhringer, J., Harzer, K., Laugwitz, L., Beck-Wödl, S., Krägeloh-Mann, I., Groeschel, S.

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics ; Neuropediatrics ; ISSN 1439-1899

الإتاحة: https://doi.org/10.1055/s-0041-1739622Test

المؤلفون: Laugwitz, L., Seibt, A., Herebian, D., Peralta, S., Kienzle, I., Buchert, R., Falb, R., Gauck, D., Müller, A., Grimmel, M., Beck-Woedel, S., Kern, J., Daliri, K., Katibeh, P., Danhauser, K., Leiz, S., Alesi, V., Baertling, F., Vasco, G., Steinfeld, R., Wagner, M., Caglayan, A.O., Gumus, H., Burmeister, M., Mayatepek, E., Martinelli, D., Tamhankar, P.M., Tamhankar, V., Joset, P., Steindl, K., Rauch, A., Bonnen, P.E., Froukh, T., Groeschel, S., Krägeloh-Mann, I., Haack, T.B., Distelmaier, F.

المصدر: J. Med. Genet., DOI:10.1136/jmedgenet-2021-107729 (2021)

مصطلحات موضوعية: Nervous System Diseases, Pediatrics, Epilepsy, Early Diagnosis

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34656997; info:eu-repo/semantics/altIdentifier/wos/WOS:000725042300001; info:eu-repo/semantics/altIdentifier/isbn/0022-2593; info:eu-repo/semant; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63760Test; urn:isbn:0022-2593; urn:issn:0022-2593; urn:issn:1468-6244

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-107729Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63760Test

المؤلفون: Donkervoort, S., Mohassel, P., Laugwitz, L., Zaki, M.S., Kamsteeg, E.J., Maroofian, R., Chao, K.R., Verschuuren-Bemelmans, C.C., Horber, V., Fock, A.J.M., McCarty, R.M., Jain, M.S., Biancavilla, V., McMacken, G., Nalls, M., Voermans, N.C., Elbendary, H.M., Snyder, M., Cai, C., Lehky, T.J., Stanley, V., Iannaccone, S.T., Foley, A.R., Lochmüller, H., Gleeson, J., Houlden, H., Haack, T.B., Horvath, R., Bönnemann, C.G.

المصدر: American Journal of Medical Genetics. Part A, 182, 10, pp. 2272-2283

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

العلاقة: https://hdl.handle.net/2066/229372Test; https://doi.org/10.1002/ajmg.a.61765Test

الإتاحة: https://doi.org/10.1002/ajmg.a.61765Test
https://hdl.handle.net/2066/229372Test

المؤلفون: Donkervoort, S., Mohassel, P., Laugwitz, L., Kamsteeg, E., Chao, K., Verschuuren-Bemelmans, C., Horber, V., Fock, J., Voermans, N., Hu, Y., Snyder, M., Iannaccone, S., Lochmüller, H., Haack, T., Foley, A., Horvath, R., Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 29, page S192 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2019.06.542Test
https://api.elsevier.com/content/article/PII:S0960896619309307?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896619309307?httpAccept=text/plainTest