المؤلفون: Mol, M. O., van Ham, T. J., Bannink, N., Bruggenwirth, H. T., Escher, J. C., Kros, J. M., Renkens, J. J. M., van Unen, L., Verdijk, R. M., Vlot, J., Verhoeven, V. J. M., Demirdas, S.

المصدر: Mol , M O , van Ham , T J , Bannink , N , Bruggenwirth , H T , Escher , J C , Kros , J M , Renkens , J J M , van Unen , L , Verdijk , R M , Vlot , J , Verhoeven , V J M & Demirdas , S 2024 , ' Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder ' , European Journal of Human Genetics , vol. 32 , no. 12 , pp. 1567-1573 . https://doi.org/10.1038/s41431-024-01692-x

الاتاحة: https://pure.eur.nl/en/publications/f5912c23-eef6-4a8d-8d7f-b1ebb2e7c1ac
https://doi.org/10.1038/s41431-024-01692-x
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:001328909800001&DestLinkType=FullRecord&DestApp=WOS_CPL

المؤلفون: Karimi K., Mol M. O., Haghshenas S., Relator R., Levy M. A., Kerkhof J., McConkey H., Brooks A., Zonneveld-Huijssoon E., Gerkes E. H., Tedder M. L., Vissers L., Salzano E., Piccione M., Asaftei S. D., Carli D., Mussa A., Shukarova-Angelovska E., Trajkova S., Brusco A., Merla G., Alders M. M., Bouman A., Sadikovic B.

المساهمون: Karimi K., Mol M.O., Haghshenas S., Relator R., Levy M.A., Kerkhof J., McConkey H., Brooks A., Zonneveld-Huijssoon E., Gerkes E.H., Tedder M.L., Vissers L., Salzano E., Piccione M., Asaftei S.D., Carli D., Mussa A., Shukarova-Angelovska E., Trajkova S., Brusco A., Merla G., Alders M.M., Bouman A., Sadikovic B.

مصطلحات موضوعية: CTCF, DNA methylation, Developmental disorder, Episignature,IDD21

Relation: info:eu-repo/semantics/altIdentifier/pmid/38054406; info:eu-repo/semantics/altIdentifier/wos/WOS:001162872800001; volume:26; issue:3; firstpage:101041; numberofpages:14; journal:GENETICS IN MEDICINE; https://hdl.handle.net/10447/623193

الاتاحة: https://hdl.handle.net/10447/623193
https://doi.org/10.1016/j.gim.2023.101041

المؤلفون: Poos, J. M., Jiskoot, L. C., Leijdesdorff, S. M.J., Seelaar, H., Panman, J. L., van der Ende, E. L., Mol, M. O., Meeter, L. H.H., Pijnenburg, Y. A.L., Donker Kaat, L., de Jong, F. J., van Swieten, J. C., Papma, J. M., van den Berg, E.

المصدر: Poos , J M , Jiskoot , L C , Leijdesdorff , S M J , Seelaar , H , Panman , J L , van der Ende , E L , Mol , M O , Meeter , L H H , Pijnenburg , Y A L , Donker Kaat , L , de Jong , F J , van Swieten , J C , Papma , J M & van den Berg , E 2020 , ' Correction to : Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia (Journal of Neurology, (2020), 267, 6, (1603-1612), ....

الاتاحة: https://research.vumc.nl/en/publications/aeab519b-7098-461c-a325-944b6d10444e
https://doi.org/10.1007/s00415-020-09784-6
http://www.scopus.com/inward/record.url?scp=85082326239&partnerID=8YFLogxK

المؤلفون: Poos, J. M., Jiskoot, L. C., Leijdesdorff, S. M.J., Seelaar, H., Panman, J. L., van der Ende, E. L., Mol, M. O., Meeter, L. H.H., Pijnenburg, Y. A.L., Donker Kaat, L., de Jong, F. J., van Swieten, J. C., Papma, J. M., van den Berg, E.

المصدر: Poos , J M , Jiskoot , L C , Leijdesdorff , S M J , Seelaar , H , Panman , J L , van der Ende , E L , Mol , M O , Meeter , L H H , Pijnenburg , Y A L , Donker Kaat , L , de Jong , F J , van Swieten , J C , Papma , J M & van den Berg , E 2020 , ' Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia ' , Journal of Neurology , vol. 267 , no. ....

الاتاحة: https://research.vumc.nl/en/publications/3c32cbc0-ea8d-4fda-a661-7b6286c4e8f0
https://doi.org/10.1007/s00415-020-09738-y
http://www.scopus.com/inward/record.url?scp=85079430400&partnerID=8YFLogxK

المؤلفون: Costa B., Manzoni C., Bernal-Quiros M., Kia D. A., Aguilar M., Alvarez I., Alvarez V., Andreassen O. A., Anfossi M., Bagnoli S., Benussi L., Bernardi L., Binetti G., Blackburn D. J., Boada M., Borroni B., Bowns L., Brathen G., Bruni A. C., Chiang H. -H., Clarimon J., Colville S., Conidi M. E., Cope T. E., Cruchaga C., Cupidi C., Di Battista M. E., Diehl-Schmid J., Diez-Fairen M., Dols-Icardo O., Durante E., Flisar D., Frangipane F., Galimberti D., Gallo M., Gallucci M., Ghidoni R., Graff C., Grafman J. H., Grossman M., Hardy J., Hernandez I., Holloway G. J. T., Huey E. D., Illan-Gala I., Karydas A., Khoshnood B., Kramberger M. G., Kristiansen M., Lewis P. A., Lleo A., Madhan G. K., Maletta R., Maver A., Menendez-Gonzalez M., Milan G., Miller B. L., Mol M. O., Momeni P., Moreno-Grau S., Morris C. M., Nacmias B., Nilsson C., Novelli V., Oijerstedt L., Padovani A., Pal S., Panchbhaya Y., Pastor P., Peterlin B., Piaceri I., Pickering-Brown S., Pijnenburg Y. A. L., Puca A. A., Rainero I., Rendina A., Richardson A. M. T., Rogaeva E., Rogelj B., Rollinson S., Rossi G., Rossmeier C., Rowe J. B., Rubino E., Ruiz A., Sanchez-Valle R., Sando S. B., Santillo A. F., Saxon J., Scarpini E., Serpente M., Smirne N., Sorbi S., Suh E., Tagliavini F., Thompson J. C., Trojanowski J. Q., van Deerlin V. M., van der Zee J., van Broeckhoven C., van Rooij J. G. J., van Swieten J. C., Veronesi A., Vitale E., Waldo M. L., Woodward C., Yokoyama J. S., Escott-Price V., Polke J. M., Ferrari R.

المساهمون: Costa B., Manzoni C., Bernal-Quiros M., Kia D.A., Aguilar M., Alvarez I., Alvarez V., Andreassen O.A., Anfossi M., Bagnoli S., Benussi L., Bernardi L., Binetti G., Blackburn D.J., Boada M., Borroni B., Bowns L., Brathen G., Bruni A.C., Chiang H.-H., Clarimon J., Colville S., Conidi M.E., Cope T.E., Cruchaga C., Cupidi C., Di Battista M.E., Diehl-Schmid J., Diez-Fairen M., Dols-Icardo O., Durante E., Flisar D., Frangipane F., Galimberti D., Gallo M., Gallucci M., Ghidoni R., Graff C., Grafman J.H., Grossman M., Hardy J., Hernandez I., Holloway G.J.T., Huey E.D., Illan-Gala I., Karydas A., Khoshnood B., Kramberger M.G., Kristiansen M., Lewis P.A., Lleo A., Madhan G.K., Maletta R., Maver A., Menendez-Gonzalez M., Milan G., Miller B.L., Mol M.O., Momeni P., Moreno-Grau S., Morris C.M., Nacmias B., Nilsson C., Novelli V., Oijerstedt L., Padovani A., Pal S., Panchbhaya Y., Pastor P., Peterlin B., Piaceri I., Pickering-Brown S., Pijnenburg Y.A.L., Puca A.A., Rainero I., Rendina A., Richardson A.M.T., Rogaeva E., Rogelj B., Rollinson S., Rossi G., Rossmeier C., Rowe J.B., Rubino E., Ruiz A., Sanchez-Valle R., Sando S.B., Santillo A.F., Saxon J., Scarpini E., Serpente M., Smirne N., Sorbi S., Suh E., Tagliavini F., Thompson J.C., Trojanowski J.Q., van Deerlin V.M., van der Zee J., van Broeckhoven C.

مصطلحات موضوعية: Age of Onset, Aged, 80 and over, Aphasia, Primary Progressive, C9orf72 Protein, Cohort Studie, DNA Repeat Expansion, Europe, Female, Frontotemporal Dementia, Frontotemporal Lobar Degeneration, Geography, Human, Male, Mediterranean Region, Middle Aged, Principal Component Analysi, Scandinavian and Nordic Countrie, Syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/32943482; info:eu-repo/semantics/altIdentifier/wos/WOS:000607315800025; volume:95; issue:24; firstpage:E3288; lastpage:E3302; numberofpages:14; journal:NEUROLOGY; http://hdl.handle.net/2318/1783264; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85098531165

الاتاحة: http://hdl.handle.net/2318/1783264
https://doi.org/10.1212/WNL.0000000000010914

المؤلفون: Poos, J. M., Jiskoot, L. C., Leijdesdorff, S. M.J., Seelaar, H., Panman, J. L., van der Ende, E. L., Mol, M. O., Meeter, L. H.H., Pijnenburg, Y. A.L., Donker Kaat, L., de Jong, F. J., van Swieten, J. C., Papma, J. M., van den Berg, E.

المساهمون: Neurology, Amsterdam Neuroscience - Neurodegeneration

المصدر: Journal of Neurology, 267(6), 1613-1614. D. Steinkopff-Verlag
Poos, J M, Jiskoot, L C, Leijdesdorff, S M J, Seelaar, H, Panman, J L, van der Ende, E L, Mol, M O, Meeter, L H H, Pijnenburg, Y A L, Donker Kaat, L, de Jong, F J, van Swieten, J C, Papma, J M & van den Berg, E 2020, ' Correction to : Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia (Journal of Neurology, (2020), 267, 6, (1603-1612), 10.1007/s00415-020-09738-y) ', Journal of Neurology, vol. 267, no. 6, pp. 1613-1614 . https://doi.org/10.1007/s00415-020-09784-6

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4ddd48f58321813ed7d9216d7c03fedb
https://research.vumc.nl/en/publications/aeab519b-7098-461c-a325-944b6d10444e