المؤلفون: Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Gronborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, 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 JA, Bertini ES, Ghezzi D, Ostergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H

المصدر: American Journal of Human Genetics, 1 September 2022

وصف الملف: text/html

Relation: https://eprints.ncl.ac.uk/285271; https://eprints.ncl.ac.uk/fulltext.aspx?url=285271/4E2F9BC5-335F-4DC4-8AFE-490BA651810C.html&pub_id=285271

الاتاحة: https://eprints.ncl.ac.uk/285271

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

Relation: 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/11365/1128531; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086169325

الاتاحة: http://hdl.handle.net/11365/1128531
https://doi.org/10.1002/ana.25751
https://onlinelibrary.wiley.com/doi/10.1002/ana.25751

المؤلفون: Traschutz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, 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 AN, Hanagasi H, Kurul SH, Bender B, Schols L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M

المصدر: Annals of Neurology, 2020

Relation: https://eprints.ncl.ac.uk/267555

الاتاحة: https://eprints.ncl.ac.uk/267555

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: 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

Relation: 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=59757; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

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

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: 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. 59, 878–887 (2022)

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

Relation: 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

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

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., Nottia, M. Di, McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J.A., Bertini, E.S., Ghezzi, D., Østergaard, E., Wortmann, S.B., Carrozzo, R., Haack, T.B., Taylor, R.W., Spinazzola, A., Nowikovsky, K., Houlden, H.

المصدر: American Journal of Human Genetics; 1692; 1712; 0002-9297; 9; 109; ~American Journal of Human Genetics~1692~1712~~~0002-9297~9~109~~

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/283148/283148.pdf
https://repository.ubn.ru.nl/handle/2066/283148
https://doi.org/10.1016/j.ajhg.2022.07.007

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

الاتاحة: http://dx.doi.org/10.1055/s-0041-1739622
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0041-1739622

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

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

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

المؤلفون: Illsinger, S., Korenke, G.C., Boesch, S., Nocker, M., Karall, D., Nuoffer, J.M., Laugwitz, L., Mayr, J.A., Scholl-Bürgi, S., Freisinger, P., Kowald, T., Kölker, S., Prokisch, H., Haack, T.B.

المصدر: Eur. J. Med. Genet. 63:104046 (2020)

مصطلحات موضوعية: Echs1, Dystonia, Paroxysmal, Exercise-induced, Opisthotonus, Ketogenic Diet

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000579498400003; info:eu-repo/semantics/altIdentifier/isbn/1769-7212; info:eu-repo/semantics/altIdentifier/pissn/1769-7212; info:eu-repo/semanti

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59983
https://doi.org/10.1016/j.ejmg.2020.104046

المؤلفون: Traschütz, 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., Jonghe, P. De, Ridder, W. De, Bereau, M., Demuth, S., Ganos, C., Basak, A.N., Hanagasi, H., Kurul, S.H., Bender, B., Schöls, L., Grasshoff, U., Klopstock, T., Horvath, R., Warrenburg, B.P.C. van de, 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.

المصدر: Annals of Neurology; 251; 263; 0364-5134; 2; vol. 88; ~Annals of Neurology~251~263~~~0364-5134~2~88~~

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

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2019.06.542
https://api.elsevier.com/content/article/PII:S0960896619309307?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896619309307?httpAccept=text/plain

المؤلفون: Danhauser, K., Alhaddad, B., Makowski, C., Piekutowska-Abramczuk, D., Syrbe, S., Gomez-Ospina, N., Manning, M.A., Kostera-Pruszczyk, A., Krahn-Peper, C., Berutti, R., Kovács-Nagy, R., Gusic, M., Graf, E., Laugwitz, L., Röblitz, M., Wroblewski, A., Hartmann, H., Das, A.M., Bültmann, E., Fang, F., Xu, M., Schatz, U.A., Karall, D., Zellner, H., Haberlandt, E., Feichtinger, R.G., Mayr, J.A., Meitinger, T., Prokisch, H., Strom, T.M., Płoski, R., Hoffmann, G.F., Pronicki, M., Bonnen, P.E., Morlot, S., Haack, T.B.

المصدر: Am. J. Hum. Genet. 103, 817-825 (2018)

مصطلحات موضوعية: Adprhl2, Arh3, Parp, Ataxia, Cerebellar Atrophy, Neurodegeneration, Neuropathy, Posttranslational Modification, Ribosylation, Seizure

Relation: info:eu-repo/semantics/altIdentifier/pmid/30401461; info:eu-repo/semantics/altIdentifier/wos/WOS:000448942100016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54597
https://doi.org/10.1016/j.ajhg.2018.10.005