المؤلفون: Mochel, F.

المصدر: Pratique Neurologique - FMC ; volume 15, issue 1, page 9-21 ; ISSN 1878-7762

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1016/j.praneu.2024.01.003Test
https://api.elsevier.com/content/article/PII:S1878776224000049?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1878776224000049?httpAccept=text/plainTest

المؤلفون: Savvatis, K., Vissing, C., Klouvi, L., Florian, A., Béhin, A., Masingue, M., Stojkovic, T., Mochel, F., Stalens, C., Procaccio, V., Spinazzi, M., Echaniz-Laguna, A., Quinlivan, R., Hanna, M., Tard, C., Yilmaz, A., Vissing, J., Laforêt, P., Elliott, P., Wahbi, K.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 15, issue 1, page 30 ; ISSN 1878-6480

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/j.acvdsp.2022.10.053Test
https://api.elsevier.com/content/article/PII:S1878648022003342?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1878648022003342?httpAccept=text/plainTest

المؤلفون: Wong, S.S., Yuen, L.Y., Kan, E., Blau, N., Rodenburg, R.J., Lam, C.W., Wong, V.C., Mochel, F., Wevers, R.A., Fung, C.W.

المصدر: Molecular Genetics and Metabolism Reports, 38, pp. 101023

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 6: Metabolic Disorders Paediatrics

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/300062/300062.pdfTest; https://repository.ubn.ru.nl/handle/2066/300062Test

الإتاحة: https://doi.org/10.1016/j.ymgmr.2023.101023Test
https://repository.ubn.ru.nl//bitstream/handle/2066/300062/300062.pdfTest
https://repository.ubn.ru.nl/handle/2066/300062Test

المؤلفون: Mütze, U., Gleich, F., Garbade, S.F., Plisson, C., Aldámiz-Echevarría, L., Arrieta, F., Ballhausen, D., Zielonka, M., Petković Ramadža, D., Baumgartner, M.R., Cano, A., García Jiménez, M.C., Dionisi-Vici, C., Ješina, P., Blom, H.J., Couce, M.L., Meavilla Olivas, S., Mention, K., Mochel, F., Morris, AAM, Mundy, H., Redonnet-Vernhet, I., Santra, S., Schiff, M., Servais, A., Vitoria, I., Huemer, M., Kožich, V., Kölker, S.

المصدر: Journal of inherited metabolic disease, vol. 45, no. 4, pp. 719-733

مصطلحات موضوعية: Betaine/adverse effects, Cystathionine beta-Synthase, Homocysteine, Homocystinuria/drug therapy, Humans, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency, Methylenetetrahydrofolate Reductase (NADPH2)/genetics, Muscle Spasticity, Psychotic Disorders, E-HOD, betaine anhydrous, homocystinuria, orphan drug, postauthorization safety study, public private partnership, rare disease

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35358327; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5D5BE243D67D6; https://serval.unil.ch/notice/serval:BIB_5D5BE243D67DTest; urn:issn:0141-8955; https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6Test

الإتاحة: https://doi.org/10.1002/jimd.12499Test
https://serval.unil.ch/notice/serval:BIB_5D5BE243D67DTest
https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6Test

المؤلفون: Stamberger, H, Crosiers, D, Balagura, G, Bonardi, CM, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, CA, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, KM, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, Ruggiero, SM, Mochel, F, Ramond, F, Reif, PS, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, RH, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, IE, Striano, P, Moller, RS, Gardella, E, Weckhuysen, S

العلاقة: pii: WNL.0000000000200715; Stamberger, H., Crosiers, D., Balagura, G., Bonardi, C. M., Basu, A., Cantalupo, G., Chiesa, V., Christensen, J., Dalla Bernardina, B., Ellis, C. A., Furia, F., Gardiner, F., Giron, C., Guerrini, R., Klein, K. M., Korff, C., Krijtova, H., Leffner, M., Lerche, H. ,. Weckhuysen, S. (2022). Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. NEUROLOGY, 99 (3), pp.E221-E233. https://doi.org/10.1212/WNL.0000000000200715Test.; http://hdl.handle.net/11343/316387Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000200715Test
http://hdl.handle.net/11343/316387Test

المؤلفون: Savvatis, K, Vissing, CR, Klouvi, L, Florian, A, Rahman, M, Béhin, A, Fayssoil, A, Masingue, M, Stojkovic, T, Bécane, HM, Berber, N, Mochel, F, Duboc, D, Fontaine, B, Krett, B, Stalens, C, Lejeune, J, Pitceathly, RDS, Lopes, L, Saadi, M, Gossios, T, Procaccio, V, Spinazzi, M, Tard, C, De Groote, P, Dhaenens, CM, Douillard, C, Echaniz-Laguna, A, Quinlivan, R, Hanna, MG, Yilmaz, A, Vissing, J, Laforêt, P, Elliott, P, Wahbi, K

المصدر: Journal of the American College of Cardiology , 80 (15) pp. 1421-1430. (2022)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Cardiovascular System & Cardiology, conduction disease, heart failure, m3243A > G, mitochondrial diseases, single large-scale deletions, sudden death, ASSOCIATION TASK-FORCE, KEARNS-SAYRE SYNDROME, AMERICAN-COLLEGE, DNA MUTATIONS, CARDIOMYOPATHY, INVOLVEMENT, COMMITTEE, ABNORMALITIES, PREVALENCE, CONDUCTION

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10160733/2/Quinlivan_JACC_email_attachment_0_1657664075_1final.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10160733Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10160733/2/Quinlivan_JACC_email_attachment_0_1657664075_1final.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10160733Test/

المؤلفون: Huin, V, Coarelli, G, Guemy, C, Boluda, S, Debs, R, Mochel, F, Stojkovic, T, Grabli, D, Maisonobe, T, Gaymard, B, Lenglet, T, Tard, C, Davion, J-B, Sablonnière, B, Monin, M-L, Ewenczyk, C, Viala, K, Charles, P, Le Ber, I, Reilly, MM, Houlden, H, Cortese, A, Seilhean, D, Brice, A, Durr, A

المصدر: Brain , 145 (6) pp. 2121-2132. (2022)

مصطلحات موضوعية: CANVAS, cerebellar ataxia, motor neuron, parkinsonism, sensory neuronopathy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141005/1/awab449%20%281%29.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141005Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10141005/1/awab449%20%281%29.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10141005Test/

المؤلفون: Vergallo A., Lista S., Zhao Y., Lemercier P., Teipel S. J., Potier M. -C., Habert M. -O., Dubois B., Lukiw W. J., Hampel H., Bakardjian H., Benali H., Bertin H., Bonheur J., Boukadida L., Boukerrou N., Cavedo E., Chiesa P., Colliot O., Dubois M., Epelbaum S., Gagliardi G., Genthon R., Houot M., Kas A., Lamari F., Levy M., Metzinger C., Mochel F., Nyasse F., Poisson C., Revillon M., Santos A., Andrade K. S., Sole M., Surtee M., de Schotten M. T., Younsi N., Afshar M., Aguilar L. F., Akman-Anderson L., Arenas J., Avila J., Babiloni C., Baldacci F., Batrla R., Benda N., Black K. L., Bokde A. L. W., Bonuccelli U., Broich K., Cacciola F., Caraci F., Caruso G., Castrillo J., Ceravolo R., Chiesa P. A., Corbo M., Corvol J. -C., Cuello A. C., Cummings J. L., Depypere H., Duggento A., Emanuele E., Escott-Price V., Federoff H., Ferretti M. T., Fiandaca M., Frank R. A., Garaci F., Geerts H., Giacobini E., Giorgi F. S., Goetzl E. J., Graziani M., Haberkamp M., Hanisch B., Herholz K., Hernandez F., Imbimbo B. P., Kapogiannis D., Karran E., Kiddle S. J., Kim S. H., Koronyo Y., Koronyo-Hamaoui M., Langevin T., Lehericy S., Llavero F., Lorenceau J., Lucia A., Mango D., Mapstone M., Neri C., Nistico R., O'Bryant S. E., Palermo G., Perry G., Ritchie C., Rossi S., Saidi A., Santarnecchi E., Schneider L. S., Sporns O., Toschi N., Valenzuela P. L., Vellas B., Verdooner S. R., Villain N., Giudici K. V., Watling M., Welikovitch L. A., Woodcock J., Younesi E., Zugaza J. L.

المساهمون: Vergallo, A., Lista, S., Zhao, Y., Lemercier, P., Teipel, S. J., Potier, M. -C., Habert, M. -O., Dubois, B., Lukiw, W. J., Hampel, H., Bakardjian, H., Benali, H., Bertin, H., Bonheur, J., Boukadida, L., Boukerrou, N., Cavedo, E., Chiesa, P., Colliot, O., Dubois, M., Epelbaum, S., Gagliardi, G., Genthon, R., Houot, M., Kas, A., Lamari, F., Levy, M., Metzinger, C., Mochel, F., Nyasse, F., Poisson, C., Revillon, M., Santos, A., Andrade, K. S., Sole, M., Surtee, M., de Schotten, M. T., Younsi, N., Afshar, M., Aguilar, L. F., Akman-Anderson, L., Arenas, J., Avila, J., Babiloni, C., Baldacci, F., Batrla, R., Benda, N., Black, K. L., Bokde, A. L. W., Bonuccelli, U., Broich, K., Cacciola, F., Caraci, F., Caruso, G., Castrillo, J., Ceravolo, R., Chiesa, P. A., Corbo, M., Corvol, J. -C., Cuello, A. C., Cummings, J. L., Depypere, H., Duggento, A., Emanuele, E., Escott-Price, V., Federoff, H., Ferretti, M. T., Fiandaca, M., Frank, R. A., Garaci, F., Geerts, H., Giacobini, E., Giorgi, F. S., Goetzl, E. J., Graziani, M., Haberkamp, M., Hanisch, B., Herholz, K., Hernandez, F., Imbimbo, B. P., Kapogiannis, D., Karran, E., Kiddle, S. J., Kim, S. H., Koronyo, Y., Koronyo-Hamaoui, M., Langevin, T., Lehericy, S., Llavero, F., Lorenceau, J., Lucia, A., Mango, D.

مصطلحات موضوعية: Alzheimer Disease, Amyloid beta-Peptide, Brain, Cross-Sectional Studie, Fluorodeoxyglucose F18, Human, MicroRNA, Pilot Project, Positron-Emission Tomography

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33504764; info:eu-repo/semantics/altIdentifier/wos/WOS:000612361300001; volume:11; issue:1; firstpage:1; lastpage:11; numberofpages:11; journal:TRANSLATIONAL PSYCHIATRY; https://hdl.handle.net/11365/1127384Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100101325; https://www.nature.com/articles/s41398-020-01184-8Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7840941Test/

الإتاحة: https://doi.org/10.1038/s41398-020-01184-8Test
https://hdl.handle.net/11365/1127384Test
https://www.nature.com/articles/s41398-020-01184-8Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7840941Test/

المؤلفون: Penner G., Lecocq S., Chopin A., Vedoya X., Lista S., Vergallo A., Cavedo E., Lejeune F. -X., Dubois B., Hampel H., Bakardjian H., Benali H., Bertin H., Bonheur J., Boukadida L., Boukerrou N., Chiesa P. A., Colliot O., Dubois M., Epelbaum S., Gagliardi G., Genthon R., Habert M. -O., Houot M., Kas A., Lamari F., Levy M., Metzinger C., Mochel F., Nyasse F., Poisson C., Potier M. -C., Revillon M., Santos A., Andrade K. S., Sole M., Surtee M., de Schotten M. T., Younsi N., Afshar M., Aguilar L. F., Akman-Anderson L., Aremas J., Avila J., Babiloni C., Baldacci F., Batrla R., Benda N., Black K. L., Bokde A. L. W., Bonuccelli U., Broich K., Cacciola F., Caraci F., Caruso G., Castrillo J., Ceravolo R., Corbo M., Corvol J. -C., Cuello A. C., Cummings J. L., Depypere H., Duggento A., Emanuele E., Escott-Price V., Federoff H., Ferretti M. T., Fiandaca M., Frank R. A., Garaci F., Geerts H., Giacobini E., Giorgi F. S., Goetzl E. J., Graziani M., Haberkamp M., Hanisch B., Herholz K., Hernandez F., Imbimbo B. P., Kapogiannis D., Karran E., Kiddle S. J., Kim S. H., Koronyo Y., Koronyo-Hamaoui M., Langevin T., Lehericy S., Lemercier P., Llavero F., Lorenceau J., Lucia A., Mango D., Mapstone M., Neri C., Nistico R., O'Bryant S. E., Palermo G., Perry G., Ritchie C., Rossi S., Saidi A., Santarnecchi E., Schneider L. S., Sporns O., Toschi N., Valenzuela P. L., Vellas B., Verdooner S. R., Villain N., Giudici K. V., Watling M., Welikovitch L. A., Woodcock J., Younesi E., Zugaza J. L.

المساهمون: Penner, G., Lecocq, S., Chopin, A., Vedoya, X., Lista, S., Vergallo, A., Cavedo, E., Lejeune, F. -X., Dubois, B., Hampel, H., Bakardjian, H., Benali, H., Bertin, H., Bonheur, J., Boukadida, L., Boukerrou, N., Chiesa, P. A., Colliot, O., Dubois, M., Epelbaum, S., Gagliardi, G., Genthon, R., Habert, M. -O., Houot, M., Kas, A., Lamari, F., Levy, M., Metzinger, C., Mochel, F., Nyasse, F., Poisson, C., Potier, M. -C., Revillon, M., Santos, A., Andrade, K. S., Sole, M., Surtee, M., de Schotten, M. T., Younsi, N., Afshar, M., Aguilar, L. F., Akman-Anderson, L., Aremas, J., Avila, J., Babiloni, C., Baldacci, F., Batrla, R., Benda, N., Black, K. L., Bokde, A. L. W., Bonuccelli, U., Broich, K., Cacciola, F., Caraci, F., Caruso, G., Castrillo, J., Ceravolo, R., Corbo, M., Corvol, J. -C., Cuello, A. C., Cummings, J. L., Depypere, H., Duggento, A., Emanuele, E., Escott-Price, V., Federoff, H., Ferretti, M. T., Fiandaca, M., Frank, R. A., Garaci, F., Geerts, H., Giacobini, E., Giorgi, F. S., Goetzl, E. J., Graziani, M., Haberkamp, M., Hanisch, B., Herholz, K., Hernandez, F., Imbimbo, B. P., Kapogiannis, D., Karran, E., Kiddle, S. J., Kim, S. H., Koronyo, Y., Koronyo-Hamaoui, M., Langevin, T., Lehericy, S., Lemercier, P., Llavero, F., Lorenceau, J., Lucia, A., Mango, D., Mapstone, M., Neri, C., Nistico, R., O'Bryant, S. E., Palermo, G., Perry, G., Ritchie, C.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33395442; info:eu-repo/semantics/altIdentifier/wos/WOS:000607069100023; volume:16; issue:1; firstpage:1; lastpage:14; numberofpages:14; journal:PLOS ONE; http://hdl.handle.net/11365/1127944Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099332108; https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0243902Test

الإتاحة: https://doi.org/10.1371/journal.pone.0243902Test
http://hdl.handle.net/11365/1127944Test
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0243902Test

المؤلفون: van Wegberg A. M. J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M. S., Maillot F., van Spronsen F. J., Ahring K., Al Mutairi F., Arnoux J. B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H. B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M. L., Cozens A., Dahri S., Das A. M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F. G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F. T., Enns G. M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S. C., Haas D., Handoom B., Harte T. B., Hendriksz C., Heredia R. S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S. S., Jesina P., Jonsson J. J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C. M. A., MacDonald A., Megdad E. M., Mitchell J., Mochel F., Moreno-Lozano P. J., Morris A., Moura de Souza C. F., Munoz T., Nevalainen P. I., Oscarson M., Ounap K., Paci S., Pastores G. M., Pearl P. L., Piazzon F. B., Pitt J., Poon G., Porta F., Presner N., Rabaty A. A., Reinson K., Reismann P., Rink T., Rocha J. C., Rodrigues E., Saini A. G., Sanchez-Valle A., Sander J., Sarkhail P., Schwartz I. V. D., Sharma R., Sheng B., Siriwardena K., Sirrs S., Sjarif D. R., Sondheimer N., Sparkes R., Specola N., Stepien K. M., Szatmari I., Tchan M., Tkemaladze T., Tran C., Valle M. G., Vela-Amieva M., Verdaguer M. L., Vergano S. A., Vermeersch P., Vulturar R., Wagenmakers M. A. E. M., Weinhold N., Williams A. B., Wilson W. G., Zafeiriou D., Zhang H., Ziagaki A., Zolkowska J.

المساهمون: van Wegberg A.M.J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M.S., Maillot F., van Spronsen F.J., Ahring K., Al Mutairi F., Arnoux J.B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H.B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M.L., Cozens A., Dahri S., Das A.M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F.G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F.T., Enns G.M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S.C., Haas D., Handoom B., Harte T.B., Hendriksz C., Heredia R.S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S.S., Jesina P., Jonsson J.J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C.M.A., MacDonald A., Megdad E.M., Mitchell J., Mochel F., Moreno-Lozano P.J., Morris A., Moura de Souza C.F., Munoz T., Nevalainen P.I., Oscarson M., Ounap K., Paci S., Pastores G.M., Pearl P.L., Piazzon F.B., Pitt J., Poon G., Porta F., Presner N., Rabaty A.A., Reinson K., Reismann P., Rink T.

مصطلحات موضوعية: immigrant, late diagnosi, NBS, phenylketonuria, refugee

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34474089; info:eu-repo/semantics/altIdentifier/wos/WOS:000719251000042; volume:239; firstpage:231; lastpage:234.e2; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; https://hdl.handle.net/11585/928082Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118320261; https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext

الإتاحة: https://doi.org/10.1016/j.jpeds.2021.08.070Test
https://hdl.handle.net/11585/928082Test
https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext