المؤلفون: van Karnebeek, Clara D. M., Tarailo-Graovac, Maja, Leen, Rene, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drogemoller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, 1972, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R. J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michel A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frederic M., Wassermann, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, Andre B. P.

المصدر: Genetics in Medicine. 26(6)

مصطلحات موضوعية: CIAO1 and MMS19, Cofactor, Infection, Iron-sulfur clusters, Neurodegeneration

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-531109
https://doi.org/10.1016/j.gim.2024.101104
https://uu.diva-portal.org/smash/get/diva2:1868261/FULLTEXT01.pdf

المؤلفون: Wortmann, Saskia B., Feichtinger, Rene G., Abela, Lucia, van Gemert, Loes A., Aubart, Mélodie, Dufeu-Berat, Claire-Marine, Boddaert, Nathalie, de Coo, Rene, Stühn, Lara, Hebbink, Jasmijn, Willemsen, Michel A.

المساهمون: Wortmann, Saskia B., Feichtinger, Rene G., Abela, Lucia, van Gemert, Loes A., Aubart, Mélodie, Dufeu-Berat, Claire-Marine, Boddaert, Nathalie, de Coo, Rene, Stühn, Lara, Hebbink, Jasmijn, Willemsen, Michel A.

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/143150

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/143150
https://doi.org/10.1212/NXG.0000000000200146

المؤلفون: Amato, María Eugenia, Darling, Alejandra, Stovickova, Lucie, Attard, Stephen, Eggink, Hendriekje, Engelen, Marc, Freilinger, Michael, Grosso, Salvatore, Hadzsiev, Kinga, Moroni, Isabella, Nardocci, Nardo, Neubauer, David, Nicita, Francesco, Pagliano, Emanuela, Siegert, Sandy, Soler, Doriette, van de Pol, Laura A, Vasco, Gessica, Vidailhet, Marie, Willemsen, Michel Aap, Zibordi, Federica, Zorzi, Giovanna, Zumrova, Alena, Reinhard, Carola, Sevin, Caroline, Wolf, Nicole, Rodriguez-Blazquez, Carmen, Sival, Deborah A, Ortigoza-Escobar, Juan Darío

المصدر: Pediatric issues working group of the European Reference Network for Rare Neurological Diseases (ERN-RND) , Amato , M E , Darling , A , Stovickova , L , Attard , S , Eggink , H , Engelen , M , Freilinger , M , Grosso , S , Hadzsiev , K , Moroni , I , Nardocci , N , Neubauer , D , Nicita , F , Pagliano , E , Siegert , S , Soler , D , van de Pol , L A , Vasco , G , Vidailhet , M , Willemsen , M A ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/2fd34ee8-fb49-4b73-9609-5523907ca609
https://research.rug.nl/en/publications/2fd34ee8-fb49-4b73-9609-5523907ca609
https://doi.org/10.1016/j.ejpn.2024.06.011
https://pure.rug.nl/ws/files/1055458125/1-s2.0-S1090379824000977-main.pdf

المؤلفون: Vaz, Frédéric M., Staps, Pippa, van Klinken, Jan Bert, van Lenthe, Henk, Vervaart, Martin, Wanders, Ronald J. A., Pras-Raves, Mia L., van Weeghel, Michel, Salomons, Gajja S., Ferdinandusse, Sacha, Wevers, Ron A., Willemsen, Michèl A. A. P.

المصدر: Vaz , F M , Staps , P , van Klinken , J B , van Lenthe , H , Vervaart , M , Wanders , R J A , Pras-Raves , M L , van Weeghel , M , Salomons , G S , Ferdinandusse , S , Wevers , R A & Willemsen , M A A P 2024 , ' Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics ' , Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids , vol. 1869 , no. 2 , 159447 . https://doi.org/10.1016/j.bbalip.2023.159447

الاتاحة: https://research.vumc.nl/en/publications/9153acfe-7e33-4060-9c16-47d0fb16c656
https://doi.org/10.1016/j.bbalip.2023.159447
http://www.scopus.com/inward/record.url?scp=85181810637&partnerID=8YFLogxK

المؤلفون: Nanetti, Lorenzo, Kearney, Mary, Boesch, Sylvia, Stovickova, Lucie, Ortigoza-Escobar, Juan Darío, Macaya, Alfons, Gomez-Andres, David, Roze, Emmanuel, Molnar, Maria Judit, Wolf, Nicole I., Darling, Alejandra, Vasco, Gessica, Bertini, Enrico, Indelicato, Elisabetta, Neubauer, David, Haack, Tobias B., Sagi, Judit C., Danti, Federica R., Sival, Deborah, Zanni, Ginevra, Kolk, Anneli, Boespflug-Tanguy, Odile, Schols, Ludger, van de Warrenburg, Bart, Vidailhet, Marie, Willemsen, Michèl A., Buizer, Annemieke I., Orzes, Enrico, Ripp, Sophie, Reinhard, Carola, Moroni, Isabella, Mariotti, Caterina

المصدر: ERN-RND Working Group for Management of Transition , Nanetti , L , Kearney , M , Boesch , S , Stovickova , L , Ortigoza-Escobar , J D , Macaya , A , Gomez-Andres , D , Roze , E , Molnar , M J , Wolf , N I , Darling , A , Vasco , G , Bertini , E , Indelicato , E , Neubauer , D , Haack , T B , Sagi , J C , Danti , F R , Sival , D , Zanni , G , Kolk , A , Boespflug-Tanguy ....

مصطلحات موضوعية: Child-to-adult transition, Clinical practice, European Reference Networks (ERNs), Rare neurological diseases, Transition care, Young healthcare management

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/b08ea651-c310-4fb6-866a-ed295dcccfeb
https://research.rug.nl/en/publications/b08ea651-c310-4fb6-866a-ed295dcccfeb
https://doi.org/10.1007/s10072-023-07101-3
https://pure.rug.nl/ws/files/1125970219/s10072-023-07101-3.pdf
http://www.scopus.com/inward/record.url?scp=85174415792&partnerID=8YFLogxK

المؤلفون: Schonfeld, Deborah, Gardner, Katie, Willemsen, Michèl A, Ostrow, Olivia

مصطلحات موضوعية: PRACTICE

وصف الملف: text/html

Relation: http://www.bmj.com/cgi/content/short/385/jun25_6/e076814; http://dx.doi.org/10.1136/bmj-2023-076814

الاتاحة: http://www.bmj.com/cgi/content/short/385/jun25_6/e076814
https://doi.org/10.1136/bmj-2023-076814

المؤلفون: Teheux, Lara, Coolen, Ester H. A. J., Tiehuis, Laurie H., Draaisma, Jos M. T., Willemsen, Michèl A. A. P., Hermans, Renee H. B., Kuijer-Siebelink, Wietske, van der Velden, Janiëlle A. E. M.

المصدر: Medical Teacher ; volume 46, issue 11, page 1464-1471 ; ISSN 0142-159X 1466-187X

الاتاحة: https://doi.org/10.1080/0142159x.2024.2311273
https://www.tandfonline.com/doi/pdf/10.1080/0142159X.2024.2311273

المؤلفون: Takada, Sanami, Weitering, Thomas J., van Os, Nienke J.H., Du, Likun, Pico-Knijnenburg, Ingrid, Kuipers, Thomas B., Mei, Hailiang, Salzer, Elisabeth, Willemsen, Michèl A.A.P., Weemaes, Corry M.R., Pan-Hammarstrom, Qiang, van der Burg, Mirjam

المساهمون: Japanese Dermatological Association, Uehara Memorial Foundation, Action for A-T, Leids Universitair Medisch Centrum

المصدر: Journal of Allergy and Clinical Immunology ; volume 153, issue 5, page 1392-1405 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2023.12.029
https://api.elsevier.com/content/article/PII:S0091674924000800?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674924000800?httpAccept=text/plain

المؤلفون: Bisello, Giovanni, Saris, Christiaan G.J., Franchini, Rossella, Verbeek, Marcel M., Willemsen, Michel A.A.P., Perduca, Massimiliano, Bertoldi, Mariarita

المساهمون: PTC Therapeutics Inc, University of Verona, Ministero dell'Università e della Ricerca

المصدر: Molecular Genetics and Metabolism Reports ; volume 39, page 101071 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2024.101071
https://api.elsevier.com/content/article/PII:S2214426924000247?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426924000247?httpAccept=text/plain

المؤلفون: ten Donkelaar, Hans J., den Dunnen, Wilfred F.A., Lammens, Martin, Wesseling, Pieter, Willemsen, Michèl, Hori, Akira

المصدر: ten Donkelaar , H J , den Dunnen , W F A , Lammens , M , Wesseling , P , Willemsen , M & Hori , A 2023 , Development and Developmental Disorders of the Human Cerebellum . in Clinical Neuroembryology : Development and Developmental Disorders of the Human Central Nervous System: Third Edition . Springer International Publishing AG , pp. 523-593 . https://doi.org/10.1007/978-3-031-26098-8_8

مصطلحات موضوعية: Dandy-Walker malformation, Development cerebellum, Joubert syndrome, Mechanisms of cerebellar development, Medulloblastoma, Pontocerebellar hypoplasias, Protracted development cerebellum, Rhombic lip

وصف الملف: application/pdf

Relation: urn:ISBN:9783031260971

الاتاحة: https://hdl.handle.net/11370/65c60099-e093-4869-a160-159a336bca4b
https://research.rug.nl/en/publications/65c60099-e093-4869-a160-159a336bca4b
https://doi.org/10.1007/978-3-031-26098-8_8
https://pure.rug.nl/ws/files/1043427618/Clinical_Neuroembryology.pdf
http://www.scopus.com/inward/record.url?scp=85192065892&partnerID=8YFLogxK

المؤلفون: Peters, Tessa M. A., Engelke, Udo F. H., de Boer, Siebolt, Reintjes, Joris T. G., Roullet, Jean-Baptiste, Broekman, Sanne, de Vrieze, Erik, van Wijk, Erwin, Wamelink, Mirjam M. C., Artuch, Rafael, Barić, Ivo, Merx, Jona, Boltje, Thomas J., Martens, Jonathan, Willemsen, Michèl A. A. P., Verbeek, Marcel M., Wevers, Ron A., Gibson, K. Michael, Coene, Karlien L. M.

المصدر: Peters , T M A , Engelke , U F H , de Boer , S , Reintjes , J T G , Roullet , J-B , Broekman , S , de Vrieze , E , van Wijk , E , Wamelink , M M C , Artuch , R , Barić , I , Merx , J , Boltje , T J , Martens , J , Willemsen , M A A P , Verbeek , M M , Wevers , R A , Gibson , K M & Coene , K L M 2023 , ' Succinic ....

الاتاحة: https://research.vumc.nl/en/publications/6501a599-283b-4c85-a78c-3061188e1450
https://doi.org/10.1002/jimd.12657
http://www.scopus.com/inward/record.url?scp=85166420322&partnerID=8YFLogxK

المؤلفون: Tiemens, Dagmar K., Kleimeier, Lotte, Leenders, Erika, Wingbermühle, Ellen, Roelofs, Renee L., Sibbles, Barbara, Oostwegel, Floor S.M., Vroonland, Eva, van Leeuwen, Conny, Niessen, Hanneke, Sonnega, Paul, Duursma, Anniek, Willemsen, Michel A.A.P., Draaisma, Jos M.T., Pittens, Carina A.C.M.

المصدر: Tiemens , D K , Kleimeier , L , Leenders , E , Wingbermühle , E , Roelofs , R L , Sibbles , B , Oostwegel , F S M , Vroonland , E , van Leeuwen , C , Niessen , H , Sonnega , P , Duursma , A , Willemsen , M A A P , Draaisma , J M T & Pittens , C A C M 2023 , ' The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder ' , Orphanet journal of rare diseases , vol. ....

مصطلحات موضوعية: Clinical guidelines, Coagulation problems, Cognitive and behavioral functioning, Education, Energy, ERK1/2, Feeding problems, Musculoskeletal system, Noonan Syndrome Spectrum Disorders, Pain, Patient involvement, Ras/MAPK pathway, Rasopathies

الاتاحة: https://research.vu.nl/en/publications/d9b85e8e-bbe3-4253-a376-f8b97f3d64ee
https://doi.org/10.1186/s13023-023-02818-y
https://hdl.handle.net/1871.1/d9b85e8e-bbe3-4253-a376-f8b97f3d64ee
http://www.scopus.com/inward/record.url?scp=85165354074&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85165354074&partnerID=8YFLogxK

المؤلفون: Peters, Tessa M A, Merx, Jona, Kooijman, Pieter C, Noga, Marek, de Boer, Siebolt, van Gemert, Loes A, Salden, Guido, Engelke, Udo F H, Lefeber, Dirk J, van Outersterp, Rianne E, Berden, Giel, Boltje, Thomas J, Artuch, Rafael, Pías-Peleteiro, Leticia, García-Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, Wevers, Ron A, Verbeek, Marcel M, Coene, Karlien L M, Willemsen, Michèl A A P

المصدر: Peters, Tessa M A; Merx, Jona; Kooijman, Pieter C; Noga, Marek; de Boer, Siebolt; van Gemert, Loes A; Salden, Guido; Engelke, Udo F H; Lefeber, Dirk J; van Outersterp, Rianne E; Berden, Giel; Boltje, Thomas J; Artuch, Rafael; Pías-Peleteiro, Leticia; García-Cazorla, Ángeles; Barić, Ivo; Thöny, Beat; Oomens, Jos; Martens, Jonathan; Wevers, Ron A; Verbeek, Marcel M; Coene, Karlien L M; Willemsen, Michèl A A P (2023). Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit. Journal of Inherited Metabolic Disease, 46(1):66-75.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/253037/1/J_of_Inher_Metab_Disea___2022___Peters___Novel_cerebrospinal_fluid_biomarkers_of_glucose_transporter_type_1_deficiency.pdf; info:pmid/36088537; urn:issn:0141-8955

الاتاحة: https://www.zora.uzh.ch/id/eprint/253037/
https://www.zora.uzh.ch/id/eprint/253037/1/J_of_Inher_Metab_Disea___2022___Peters___Novel_cerebrospinal_fluid_biomarkers_of_glucose_transporter_type_1_deficiency.pdf
https://doi.org/10.1002/jimd.12554

المؤلفون: Roubertie, Agathe, Opladen, Thomas, Brennenstuhl, Heiko, Kuseyri Hübschmann, Oya, Flint, Lisa, Willemsen, Michel A, Leuzzi, Vincenzo, Cazorla, Angels Garcia, Kurian, Manju A, François-Heude, Marie Céline, Hwu, Paul, Zeev, Bruria Ben, Kiening, Karl, Roujeau, Thomas, Pons, Roser, Pearson, Toni S

المصدر: Journal of Inherited Metabolic Disease (2023) (In press).

مصطلحات موضوعية: AADCD, Aromatic L-amino acid decarboxylase, Eladocagene exuparvovec, gene therapy, iNTD registry, neurotransmitter

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10174116/1/Gene%20therapy%20for%20aromatic%20L%20amino%20acid%20decarboxylase%20deficiency%20%20Requirements.pdf; https://discovery.ucl.ac.uk/id/eprint/10174116/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10174116/1/Gene%20therapy%20for%20aromatic%20L%20amino%20acid%20decarboxylase%20deficiency%20%20Requirements.pdf
https://discovery.ucl.ac.uk/id/eprint/10174116/

المؤلفون: Orriëns, Lynn B., van Hulst, Karen, Willemsen, Michèl A. A. P., van den Hoogen, Frank J. A., Erasmus, Corrie E.

المصدر: Developmental Medicine & Child Neurology ; volume 66, issue 7, page 919-930 ; ISSN 0012-1622 1469-8749

الاتاحة: http://dx.doi.org/10.1111/dmcn.15837
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15837

المؤلفون: van Gemert, Loes A., van Alfen, Nens, van Gaal, Lizzy, Wortmann, Saskia, Willemsen, Michèl A.

المساهمون: Glut1 Deficiency Foundation

المصدر: Neuropediatrics ; volume 54, issue 06, page 365-370 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/a-2134-8766
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/a-2134-8766.pdf

المؤلفون: Orriëns, Lynn B., van Hulst, Karen, van der Burg, Jan J. W., van den Hoogen, Frank J. A., Willemsen, Michèl A. A. P., Erasmus, Corrie E.

المصدر: European Journal of Pediatrics ; volume 183, issue 1, page 83-93 ; ISSN 1432-1076

الاتاحة: http://dx.doi.org/10.1007/s00431-023-05309-1
https://link.springer.com/content/pdf/10.1007/s00431-023-05309-1.pdf
https://link.springer.com/article/10.1007/s00431-023-05309-1/fulltext.html

المؤلفون: van Outersterp, Rianne E., Kooijman, Pieter C., Merx, Jona, Engelke, Udo F.H., Omidikia, Nematollah, Tonneijck, Mei-Lan H., Houthuijs, Kas J., Berden, Giel, Peters, Tessa M.A., Lefeber, Dirk J., Willemsen, Michel A. A. P., Mecinovic, Jasmin, Jansen, Jeroen J., Coene, Karlien L.M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan

المساهمون: Radboud Universiteit, H2020 European Research Council, Nederlandse Organisatie voor Wetenschappelijk Onderzoek

المصدر: Analytical Chemistry ; volume 95, issue 26, page 9787-9796 ; ISSN 0003-2700 1520-6882

الاتاحة: http://dx.doi.org/10.1021/acs.analchem.3c00363
https://pubs.acs.org/doi/pdf/10.1021/acs.analchem.3c00363

المؤلفون: Bisello, Giovanni, Kusmierska, Katarzyna, Verbeek, Marcel M, Sykut-Cegielska, Jolanta, Willemsen, Michèl A A P, Wevers, Ron A, Szymańska, Krystyna, Poznanski, Jarosław, Drozak, Jakub, Wertheim-Tysarowska, Katarzyna, Rygiel, Agnieszka Magdalena, Bertoldi, Mariarita

المساهمون: Bisello, Giovanni, Kusmierska, Katarzyna, Verbeek, Marcel M, Sykut-Cegielska, Jolanta, Willemsen, Michèl A A P, Wevers, Ron A, Szymańska, Krystyna, Poznanski, Jarosław, Drozak, Jakub, Wertheim-Tysarowska, Katarzyna, Rygiel, Agnieszka Magdalena, Bertoldi, Mariarita

مصطلحات موضوعية: Aromatic amino acid decarboxylase, Aromatic amino acid decarboxylase deficiency, Catalytic loop, Monoamine neurotransmitter disorder, Pyridoxal 5’-phosphate, Structure and function studies

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35593933; info:eu-repo/semantics/altIdentifier/wos/WOS:000798340300002; volume:79; issue:305; firstpage:1; lastpage:16; numberofpages:16; journal:CELLULAR AND MOLECULAR LIFE SCIENCES; http://hdl.handle.net/11562/1065577; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130412413; https://doi.org/10.1007/s00018-022-04343-w

الاتاحة: http://hdl.handle.net/11562/1065577
https://doi.org/10.1007/s00018-022-04343-w

المؤلفون: Amato, María Eugenia, Darling, Alejandra, Stovickova, Lucie, Attard, Stephen, Eggink, Hendriekje, Engelen, Marc, Freilinger, Michael, Grosso, Salvatore, Hadzsiev, Kinga, Moroni, Isabella, Nardocci, Nardo, Neubauer, David, Nicita, Francesco, Pagliano, Emanuela, Siegert, Sandy, Soler, Doriette, van de Pol, Laura A., Vasco, Gessica, Vidailhet, Marie, Willemsen, Michel AAP.

المصدر: European Journal of Paediatric Neurology; Sep2024, Vol. 52, p10-19, 10p

مصطلحات موضوعية: TRANSITIONAL care, MOVEMENT disorders, CHILD patients, NEUROLOGICAL disorders, GENETIC disorder diagnosis