المؤلفون: Wang H., Bayram A. K., Sprute R., Ozdemir O., Cooper E., Pergande M., Efthymiou S., Nedic I., Mazaheri N., Stumpfe K., Malamiri R. A., Shariati G., Zeighami J., Bayram N., Naghibzadeh S. K., Tajik M., Yasar M., Guven A. S., Bibi F., Sultan T., Vincenzo Salpietro, Houlden H., Per H., Galehdari H., Shalbafan B., Jamshidi Y., Cirak S.

المساهمون: Wang, H., Bayram, A. K., Sprute, R., Ozdemir, O., Cooper, E., Pergande, M., Efthymiou, S., Nedic, I., Mazaheri, N., Stumpfe, K., Malamiri, R. A., Shariati, G., Zeighami, J., Bayram, N., Naghibzadeh, S. K., Tajik, M., Yasar, M., Guven, A. S., Bibi, F., Sultan, T., SALPIETRO DAMIANO, Vincenzo, Houlden, H., Per, H., Galehdari, H., Shalbafan, B., Jamshidi, Y., Cirak, S.

مصطلحات موضوعية: Charcot-Marie-Tooth disease type 4B1, Membrane remodeling, Myotubularin-related 2 gene, Phosphoinositide, Whole-exome sequencing

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31680794; info:eu-repo/semantics/altIdentifier/wos/WOS:000497583400001; volume:13; firstpage:974; lastpage:988; numberofpages:15; journal:FRONTIERS IN NEUROSCIENCE; http://hdl.handle.net/11567/1028589Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074991294

الإتاحة: https://doi.org/10.3389/fnins.2019.00974Test
http://hdl.handle.net/11567/1028589Test

المؤلفون: Oppermann, H., Marcos-Grañeda, E., Weiss, L.A., Gurnett, C.A., Jelsig, A.M., Vineke, S.H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., Hashim, M., Pagnamenta, A.T., Race, S., Srivastava, S., Frazier, Z., Maiwald, R., Pergande, M., Milani, D., Rinelli, M., Levy, J., Krey, I., Fontana, P., Lonardo, F., Riley, S., Kretzer, J., Rankin, J., Reis, L.M., Semina, E.V., Reuter, M.S., Scherer, S.W., Iascone, M., Weis, D., Fagerberg, C.R., Brasch-Andersen, C., Hansen, L.K., Kuechler, A., Noble, N., Gardham, A., Tenney, J., Rathore, G., Beck-Woedl, S., Haack, T.B., Pavlidou, D.C., Atallah, I., Vodopiutz, J., Janecke, A.R., Hsieh, T.C., Lesmann, H., Klinkhammer, H., Krawitz, P.M., Lemke, J.R., Jamra, R.A., Nieto, M., Tümer, Z., Platzer, K.

المصدر: European journal of human genetics, vol. 31, no. 11, pp. 1251-1260

مصطلحات موضوعية: Adult, Animals, Humans, Mice, Heterozygote, Homeodomain Proteins/genetics, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Phenotype, Repressor Proteins/genetics, Seizures, Transcription Factors/genetics, Transcription Factors/metabolism

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37644171; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest; urn:issn:1018-4813

الإتاحة: https://doi.org/10.1038/s41431-023-01445-2Test
https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest

المؤلفون: Wang, H, Kaçar Bayram, A, Sprute, R, Ozdemir, O, Cooper, E, Pergande, M, Efthymiou, S, Nedic, I, Mazaheri, N, Stumpfe, K, Azizi Malamiri, R, Shariati, G, Zeighami, J, Bayram, N, Naghibzadeh, SK, Tajik, M, Yaşar, M, Sami Güven, A, Bibi, F, Sultan, T, Salpietro, V, Houlden, H, Per, H, Galehdari, H, Shalbafan, B, Jamshidi, Y, Cirak, S

المصدر: Frontiers in Neuroscience , 13 , Article 974. (2019)

مصطلحات موضوعية: Charcot-Marie-Tooth disease type 4B1, membrane remodeling, myotubularin-related 2 gene, phosphoinositides, whole-exome sequencing

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10086852/1/Genotype-Phenotype%20Correlations%20in%20Charcot-Marie-Tooth%20Disease%20Due%20to%20MTMR2%20Mutations%20and%20Implications%20in%20Membrane%20Trafficki.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10086852Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10086852/1/Genotype-Phenotype%20Correlations%20in%20Charcot-Marie-Tooth%20Disease%20Due%20to%20MTMR2%20Mutations%20and%20Implications%20in%20Membrane%20Trafficki.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10086852Test/

المؤلفون: Sami, Güven, Per, Hüseyin, Cirak, S, Jamshidi, Y, Shalbafan, B, Galehdari, H, Houlden, H, Salpietro, V, Sultan, T, Bibi, F, Yaşar, M, Tajik, M, Naghibzadeh, Sk, Bayram, N, Zeighami, J, Shariati, G, Azizi, Malamiri, Stumpfe, K, Mazaheri, N, Nedic, I, Efthymiou, S, Pergande, M, Cooper, E, Ozdemir, O, Sprute, R, Kaçar, Bayram, Wang, H

العلاقة: f9952bfa-79a0-4c23-9a98-ae058ccbf421; https://avesis.erciyes.edu.tr/publication/details/f9952bfa-79a0-4c23-9a98-ae058ccbf421/oaiTest

الإتاحة: https://doi.org/10.3389/fnins.2019.00974Test
https://avesis.erciyes.edu.tr/publication/details/f9952bfa-79a0-4c23-9a98-ae058ccbf421/oaiTest

المؤلفون: Pergande, M, Montameny, S, Kawalia, A, Daimagüler, H, Becker, K, Karakaya, M, Elcioglu, N, Ostojic, S, Duman, î, Koy, A, Chao, CM, Schoner, K, Haliloglu, G, Topaloglu, H, Wang, H, Kreutzer, M, Thiele, H, Altmüller, J, Nürnberg, P, Heller, R, Cirak, S

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

الإتاحة: https://doi.org/10.1055/s-0039-1685051Test

المؤلفون: Pergande, M., Motameny, S., Özdemir, Ö., Kreutzer, M., Wang, H., Daimagüler, H.S., Becker, K., Karakaya, M., Ehrhardt, H., Elcioglu, N., Ostojic, S., Chao, C.M., Kawalia, A., Duman, Ö., Koy, A., Hahn, A., Reimann, J., Schoner, K., Schänzer, A., Westhoff, J.H., Schwaibold, E.M.C., Cossee, M., Imbert-Bouteille, M., von Pein, H., Haliloglu, G., Topaloglu, H., Altmüller, J., Nürnberg, P., Thiele, H., Heller, R., Cirak, S.

مصطلحات موضوعية: Technology Platforms

العلاقة: The genomic and clinical landscape of fetal akinesia. Pergande, M. and Motameny, S. and Özdemir, Ö. and Kreutzer, M. and Wang, H. and Daimagüler, H.S. and Becker, K. and Karakaya, M. and Ehrhardt, H. and Elcioglu, N. and Ostojic, S. and Chao, C.M. and Kawalia, A. and Duman, Ö. and Koy, A. and Hahn, A. and Reimann, J. and Schoner, K. and Schänzer, A. and Westhoff, J.H. and Schwaibold, E.M.C. and Cossee, M. and Imbert-Bouteille, M. and von Pein, H. and Haliloglu, G. and Topaloglu, H. and Altmüller, J. and Nürnberg, P. and Thiele, H. and Heller, R. and Cirak, S. Genetics in Medicine 22 (3): 511-523. March 2020

الإتاحة: https://doi.org/10.1038/s41436-019-0680-1Test
http://edoc.mdc-berlin.de/20550Test/
https://edoc.mdc-berlin.de/20550Test/

المؤلفون: Sprute, R, Bayram, N, Zeighami, J, Shariati, G, Azizi, Malamiri, Stumpfe, K, Mazaheri, N, Nedic, I, Efthymiou, S, Pergande, M, Cooper, E, Ozdemir, O, Kaçar, Bayram, Wang, H, Per, HÜSEYİN, Cirak, S, Jamshidi, Y, Shalbafan, B, Galehdari, H, Houlden, H, Salpietro, V, Sultan, T, Bibi, F, Sami, Güven, Yaşar, M, Tajik, M, Naghibzadeh, SK

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______9447::8ae88ab88b990d3db74dfd18ee576829Test
https://avesis.erciyes.edu.tr/publication/details/f9952bfa-79a0-4c23-9a98-ae058ccbf421/oaiTest

المؤلفون: Fels, L. M., Herbort, C., Pergande, M., Jung, K., Hotter, G., Roselló, J., Gelpi, E., Mutti, A., De Broe, M., Stolte, H.

مصطلحات موضوعية: research-article

وصف الملف: text/html

العلاقة: http://ndt.oxfordjournals.org/cgi/content/short/9/12/1740Test

الإتاحة: http://ndt.oxfordjournals.org/cgi/content/short/9/12/1740Test

المؤلفون: Pergande, M., Jung, K., Precht, S., Fels, L. M., Herbort, C., Stolte, H.

مصطلحات موضوعية: research-article

وصف الملف: text/html

العلاقة: http://ndt.oxfordjournals.org/cgi/content/short/9/6/613Test

الإتاحة: http://ndt.oxfordjournals.org/cgi/content/short/9/6/613Test

المؤلفون: Bayram, A., Stumpfe, K., Wang, H., Pergande, M., Per, H., Cirak, S.

مصطلحات موضوعية: ddc:no

العلاقة: Bayram, A., Stumpfe, K., Wang, H., Pergande, M., Per, H. and Cirak, S. (2017). Severe form of recessive Charcot-Marie-Tooth disease with a novel mutation in myotubularin related protein 2. Neuromusc. Disord., 27. S. S147 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

الإتاحة: https://kups.ub.uni-koeln.de/21580Test/