المؤلفون: Crow, YJ, Chase, DS, Schmidt, JL, Szynkiewicz, M, Forte, GMA, Gornall, HL, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, MS, Abdel-Salam, GM, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, EM, Bahi-Buisson, N, Bailey, KM, Barnerias, C, Barth, M, Battini, R, Beresford, MW, Bernard, G, Bianchi, M, de Villemeur, TB, Blair, EM, Bloom, M, Burlina, AB, Carpanelli, ML, Carvalho, DR, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, KE, Chitayat, DA, Collins, AE, Corcoles, CS, Cordeiro, NJV, Crichiutti, G, Dabydeen, L, Dale, RC, D'Arrigo, S, De Goede, CGEL, De Laet, C, De Waele, LMH, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, MC, Fazzi, E, Ferrie, CD, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, NR, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, MD, Kirk, EP, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, MJ, Lin, JPSM, Linnankivi, T, Mackay, MT, Marom, DR, Lourenco, CM, McKee, SA, Moroni, I, Morton, JEV, Moutard, ML, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, PJ, Olivieri, I, Ostergaard, JR, Perez-Duenas, B, Prendiville, JS, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, KA, Sinha, GP, Soler, D, Spiegel, R, Stodberg, TI, Straussberg, R, Swoboda, KJ, Suri, M, Tacke, U, Tan, TY, Naude, JT, Teik, KW, Thomas, MM, Till, M, Tonduti, D, Valente, EM, Van Coster, RN, van der Knaap, MS, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, GB, Wassmer, E, Webb, HJ, Whitehouse, WP, Whitney, RN, Zaki, MS, Zuberi, SM, Livingston, JH, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S, Rice, GI

المصدر: American journal of medical genetics. Part A. 167(167A):296-312

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130658997

المؤلفون: Scala, M, Wortmann, SB, Kaya, N, Stellingwerff, MD, Pistorio, A, Glamuzina, E, van Karnebeek, CD, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, TB, Prokisch, H, Aldhalaan, H, Karimiani, EG, Yildiz, Y, Ceylan, AC, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, MB, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, HS, Maqbool, S, Farid, A, Al-Muhaizea, MA, Alshwameen, MO, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, AH, AlRasheed, MM, Colak, D, Alqudairy, H, Khan, S, Lines, MA, Cazorla, MAG, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, MP, Taylor, JC, Alsaif, HS, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, QS, Schmitt-Mechelke, T, Ziegler, A, Issa, MY, Elbendary, HM, Striano, P, Alkuraya, FS, Zaki, MS, Gleeson, JG, Barakat, TS, Bierau, J, van der Knaap, MS, Maroofian, R, Houlden, H

المصدر: Human Mutation (2022) (In press).

مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdf; https://discovery.ucl.ac.uk/id/eprint/10142352/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdf
https://discovery.ucl.ac.uk/id/eprint/10142352/

المؤلفون: van Geest, Ferdy, Meima, Marcel, Stuurman, Kyra, Wolf, NI, van der Knaap, MS, Lorea, CF, Poswar, FO, Vairo, F, Brunetti-Pierri, N, Cappuccio, G, Bakhtiani, P, de Munnik, SA, Peeters, Robin, Visser, Edward, Groeneweg, Stefan

المصدر: van Geest , F , Meima , M , Stuurman , K , Wolf , NI , van der Knaap , MS , Lorea , CF , Poswar , FO , Vairo , F , Brunetti-Pierri , N , Cappuccio , G , Bakhtiani , P , de Munnik , SA , Peeters , R , Visser , E & Groeneweg , S 2021 , ' Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series ' , The Journal of clinical endocrinology and metabolism , vol. 106 , no. 2 , pp. 539-553 . https://doi.org/10.1210/clinem/dgaa795

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/70e71f3c-74fe-4edd-bcde-d5b7399c031b
https://doi.org/10.1210/clinem/dgaa795
https://pure.eur.nl/ws/files/48446032/Repub_134564_O-A.pdf
http://www.scopus.com/inward/record.url?scp=85100361149&partnerID=8YFLogxK
https://academic.oup.com/jcem/article-pdf/106/2/539/36029969/dgaa795.pdf

المؤلفون: Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA.

المساهمون: Helman, G, Mendes, Mi, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy, Pizzino, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, Dec, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, Ta, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, Rj, Schiffmann, R, Brandl, U, Haack, Tb, Salomons, G, Simons, C, Bernard, G, van der Knaap, M, Vanderver, A, Husain, Ra.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000689532600001; volume:23; issue:12; firstpage:2352; lastpage:2359; numberofpages:8; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11381/2912781; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85113566436; https://www.sciencedirect.com/science/article/abs/pii/S109836002105440X?via=ihub

الاتاحة: http://hdl.handle.net/11381/2912781
https://doi.org/10.1038/s41436-021-01286-8
https://www.sciencedirect.com/science/article/abs/pii/S109836002105440X?via=ihub

المؤلفون: Stellingwerff, MD, Figuccia, S, Bellacchio, E, Alvarez, K, Castiglioni, C, Topaloglu, P, Stutterd, CA, Erasmus, CE, Sanchez-Valle, A, Lebon, S, Hughes, S, Schmitt-Mechelke, T, Vasco, G, Chow, G, Rahikkala, E, Dallabona, C, Okuma, C, Aiello, C, Goffrini, P, Abbink, TEM, Bertini, ES, Van der Knaap, MS

Relation: pii: NG2020015859; Stellingwerff, M. D., Figuccia, S., Bellacchio, E., Alvarez, K., Castiglioni, C., Topaloglu, P., Stutterd, C. A., Erasmus, C. E., Sanchez-Valle, A., Lebon, S., Hughes, S., Schmitt-Mechelke, T., Vasco, G., Chow, G., Rahikkala, E., Dallabona, C., Okuma, C., Aiello, C., Goffrini, P. ,. Van der Knaap, M. S. (2021). LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. Neurol Genet, 7 (2), pp.e559-. https://doi.org/10.1212/NXG.0000000000000559.; http://hdl.handle.net/11343/301744

الاتاحة: http://hdl.handle.net/11343/301744

المؤلفون: Pelletier, F, Perrier, S, Cayami, FK, Mirchi, A, Saikali, S, Tran, LT, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, RML, Naidu, S, Pohl, D, Gibson, WT, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, BL, Brais, B, Sylvain, M, Sébire, G, Lourenço, CM, Bonkowsky, JL, Catsman-Berrevoets, C, Pinto, PS, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, WS, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, ME, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, GM, Innes, AM, Kauffman, M, Kirwin, SM, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, FI, Moutton, S, Murphy, RPJ, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, BT, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, JR, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, LK, Stevens, CA, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, BP, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, RI, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, MS, Vanderver, A, Martos-Moreno, GÁ, Polychronakos, C, Wolf, NI, Bernard, G

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdf; Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; et al. Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; Naidu, S; Pohl, D; Gibson, WT; Demos, M; Goizet, C; Tejera-Martin, I; Potic, A; Fogel, BL; Brais, B; Sylvain, M; Sébire, G; Lourenço, CM; Bonkowsky, JL; Catsman-Berrevoets, C; Pinto, PS; Tirupathi, S; Strømme, P; de Grauw, T; Gieruszczak-Bialek, D; Krägeloh-Mann, I; Mierzewska, H; Philippi, H; Rankin, J; Atik, T; Banwell, B; Benko, WS; Blaschek, A; Bley, A; Boltshauser, E; Bratkovic, D; Brozova, K; Cimas, I; Clough, C; Corenblum, B; Dinopoulos, A; Dolan, G; Faletra, F; Fernandez, R; Fletcher, J; Garcia Garcia, ME; Gasparini, P; Gburek-Augustat, J; Gonzalez Moron, D; Hamati, A; Harting, I; Hertzberg, C; Hill, A; Hobson, GM; Innes, AM; Kauffman, M; Kirwin, SM; Kluger, G; Kolditz, P; Kotzaeridou, U; La Piana, R; Liston, E; McClintock, W; McEntagart, M; McKenzie, F; Melançon, S; Misbahuddin, A; Suri, M; Monton, FI; Moutton, S; Murphy, RPJ; Nickel, M; Onay, H; Orcesi, S; Özkınay, F; Patzer, S; Pedro, H; Pekic, S; Pineda Marfa, M; Pizzino, A; Plecko, B; Poll-The, BT; Popovic, V; Rating, D; Rioux, M-F; Rodriguez Espinosa, N; Ronan, A; Ostergaard, JR; Rossignol, E; Sanchez-Carpintero, R; Schossig, A; Senbil, N; Sønderberg Roos, LK; Stevens, CA; Synofzik, M; Sztriha, L; Tibussek, D; Timmann, D; Tonduti, D; van de Warrenburg, BP; Vázquez-López, M; Venkateswaran, S; Wasling, P; Wassmer, E; Webster, RI; Wiegand, G; Yoon, G; Rotteveel, J; Schiffmann, R; van der Knaap, MS; Vanderver, A; Martos-Moreno, GÁ; Polychronakos, C; Wolf, NI; Bernard, G (2021) Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab, 106 (2). e660-e674. ISSN 1945-7197 https://doi.org/10.1210/clinem/dgaa700 SGUL Authors: McEntagart, Meriel

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113253/
https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdf

المؤلفون: Beerepoot, S, van Dooren, SJM, Salomons, GS, Boelens, JJ, Jacobs, Ed, van der Knaap, MS, van Kuilenburg, ABP, Wolf, NI

المصدر: Beerepoot , S , van Dooren , SJM , Salomons , GS , Boelens , JJ , Jacobs , E , van der Knaap , MS , van Kuilenburg , ABP & Wolf , NI 2020 , ' Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients ' , Neurogenetics , vol. 21 , no. 4 , pp. 289-299 . https://doi.org/10.1007/s10048-020-00621-6

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/30d946eb-1a27-4a89-a7df-154841138f65
https://doi.org/10.1007/s10048-020-00621-6
https://pure.eur.nl/ws/files/48363570/Repub_128853_O-A.pdf
http://hdl.handle.net/1765/128853

المؤلفون: Groeneweg, S, Van Geest, F. S, Abaci, A, Alcantud, A, Ambegaonkar, G. P, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, Van der Knaap, MS, Van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Muller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, JL, Wierzba, J, de Wit, MCY, Wolf, NI, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE

المصدر: The Lancet Diabetes and Endocrinology

وصف الملف: application/pdf

Relation: https://repositorio.uchile.cl/handle/2250/190248

الاتاحة: https://doi.org/10.1016/S2213-8587(20)30153-4
https://repositorio.uchile.cl/handle/2250/190248

المؤلفون: Dubey, M, Brouwers, E, Hamilton, EMC, Stiedl, O, Bugiani, M, Koch, H, Kole, MHP, Boschert, U, Wykes, RC, Mansvelder, HD, van der Knaap, MS, Min, R

المصدر: Annals of Neurology , 83 (3) pp. 636-649. (2018)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10047054/1/Dubey_et_al-2018-Annals_of_Neurology.pdf; https://discovery.ucl.ac.uk/id/eprint/10047054/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10047054/1/Dubey_et_al-2018-Annals_of_Neurology.pdf
https://discovery.ucl.ac.uk/id/eprint/10047054/

المؤلفون: Vrij-van den Bos, S, Hol, JA, La Piana, R, Harting, I, Vanderver, A, Barkhof, F, Cayami, F, van Wieringen, WN, Pouwels, PJ, van der Knaap, MS, Bernard, G, Wolf, NI

المصدر: Neuropediatrics , 48 (03) pp. 152-160. (2017)

مصطلحات موضوعية: 4H, leukodystrophy, MRI, hypomyelination

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1544107/1/Barkhof_Wolf%20-%204H%20MRI%20scoring%20REVISION.pdf; https://discovery.ucl.ac.uk/id/eprint/1544107/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1544107/1/Barkhof_Wolf%20-%204H%20MRI%20scoring%20REVISION.pdf
https://discovery.ucl.ac.uk/id/eprint/1544107/

المؤلفون: Stutterd, CA, Vanderver, A, Lockhart, PJ, Helman, G, Pope, K, Uebergang, E, Love, C, Delatycki, MB, Thorburn, D, Mackay, MT, Peters, H, Kornberg, AJ, Patel, C, Rodriguez-Casero, V, Waak, M, Silberstein, J, Sinclair, A, Nolan, M, Field, M, Davis, MR, Fahey, M, Scheffer, IE, Freeman, JL, Wolf, N, Taft, RJ, van der Knaap, MS, Simons, C, Leventer, RJ

Relation: pii: S1769-7212(22)00132-X; Stutterd, C. A., Vanderver, A., Lockhart, P. J., Helman, G., Pope, K., Uebergang, E., Love, C., Delatycki, M. B., Thorburn, D., Mackay, M. T., Peters, H., Kornberg, A. J., Patel, C., Rodriguez-Casero, V., Waak, M., Silberstein, J., Sinclair, A., Nolan, M., Field, M. ,. Leventer, R. J. (2022). Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services. EUROPEAN JOURNAL OF MEDICAL GENETICS, 65 (9), https://doi.org/10.1016/j.ejmg.2022.104551.; http://hdl.handle.net/11343/316385

الاتاحة: http://hdl.handle.net/11343/316385

المؤلفون: Min, R., Depienne, Christel, Sedel, F., Abbink, GEM, van der Knaap, MS

المصدر: Min , R , Depienne , C , Sedel , F , Abbink , GEM & van der Knaap , MS 2021 , CLCN2-Related Leukoencephalopathy . in GeneReviews .

الاتاحة: https://research.vu.nl/en/publications/ec3bd011-bb2a-4e03-8af6-d138e7a17fbd
https://hdl.handle.net/1871.1/ec3bd011-bb2a-4e03-8af6-d138e7a17fbd
http://europepmc.org/books/NBK326661

المؤلفون: Theunissen, T E J, Szklarczyk, R, Gerards, M, Hellebrekers, DMEI, den Hartog, NM (Elvira), Vanoevelen, J, Kamps, R, de Koning, B, Rutledge, S L, Schmitt-Mechelke, T, van Berkel, CGM, van der Knaap, MS, Coo, IFM, Smeets, HJM

المصدر: Theunissen , T E J , Szklarczyk , R , Gerards , M , Hellebrekers , DMEI , den Hartog , NM , Vanoevelen , J , Kamps , R , de Koning , B , Rutledge , S L , Schmitt-Mechelke , T , van Berkel , CGM , van der Knaap , MS , Coo , IFM & Smeets , HJM 2016 , ' Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects ' , Frontiers in Neurology , vol. 7 , 203 . https://doi.org/10.3389/fneur.2016.00203

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/409e3450-9838-42fb-8489-ca121eb1ecc1
https://doi.org/10.3389/fneur.2016.00203
https://pure.eur.nl/ws/files/47724025/REPUB_94954.pdf
http://hdl.handle.net/1765/94954

المؤلفون: Steenweg, ME, Wolf, NI, van Wieringen, WN, Barkhof, F, van der Knaap, MS, Pouwels, PJW

المصدر: Neurology , 87 (8) pp. 752-758. (2016)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10049402/1/Steenweg_Quantitative_MRI_hypomyelinating.pdf; https://discovery.ucl.ac.uk/id/eprint/10049402/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10049402/1/Steenweg_Quantitative_MRI_hypomyelinating.pdf
https://discovery.ucl.ac.uk/id/eprint/10049402/

المؤلفون: Dallabona, C, Abbink, TEM, Carrozzo, R, Torraco, A, Legati, A, van Berkel, CGM, Niceta, M, Langella, T, Verrigni, D, Rizza, T, Diodato, D, Piemonte, F, Lamantea, E, Fang, M, Zhang, J, Martinelli, D, Bevivino, E, Dionisi-Vici, C, Vanderver, A, Philip, SG, Kurian, MA, Verma, IC, Bijarnia-Mahay, S, Jacinto, S, Furtado, F, Accorsi, P, Ardissone, A, Moroni, I, Ferrero, I, Tartaglia, M, Goffrini, P, Ghezzi, D, van der Knaap, MS, Bertini, E

مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Child, Humans, Leukoencephalopathy, Progressive Multifocal / diagnosis, Progressive Multifocal / genetics, Mitochondrial Proteins / genetics, Molecular Chaperones / genetics, Molecular Sequence Data, Mutation / genetics, Saccharomyces cerevisiae, HDE NEU PED

Relation: Brain . 2016 Mar;139(Pt 3):782-94; http://hdl.handle.net/10400.17/4720

الاتاحة: http://hdl.handle.net/10400.17/4720
https://doi.org/10.1093/brain/awv392

المؤلفون: Kevelam SH, Taube JR, van Spaendonk RML, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CDM, Ostergaard JR, Friederich RL, Elsaid MF, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CGM, Waisfisz Q, Abbink TEM, van der Knaap MS, Hobson GM, Wolf NI

المساهمون: S. Kevelam, J. Taube, R. van Spaendonk, E. Bertini, K. Sperle, M. Tarnopolsky, D. Tonduti, E. Valente, L. Travaglini, E. Sisterman, G. Bernard, C. Catsman-Berrevoet, C. van Karnebeek, J. Ostergaard, R. Friederich, M. Elsaid, J. Schieving, M. Tarailo-Graovac, S. Orcesi, M. Steenweg, C. van Berkel, Q. Waisfisz, T. Abbink, M. van der Knaap, G. Hobson, N. Wolf

مصطلحات موضوعية: Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/pmid/26125040; info:eu-repo/semantics/altIdentifier/wos/WOS:000366982700005; volume:2; issue:6; firstpage:648; lastpage:661; numberofpages:14; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; https://hdl.handle.net/2434/938712; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84991209261

الاتاحة: https://hdl.handle.net/2434/938712
https://doi.org/10.1002/acn3.203

المؤلفون: Stutterd, CA, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, TY, Archer, J, Leventer, RJ, Amor, DJ, Lukic, V, Bahlo, M, Gow, P, Lockhart, PJ, van Der Knaap, MS, Delatycki, MB

Relation: Stutterd, C. A., Kidd, A., Florkowski, C., Janus, E., Fanjul, M., Raizis, A., Wu, T. Y., Archer, J., Leventer, R. J., Amor, D. J., Lukic, V., Bahlo, M., Gow, P., Lockhart, P. J., van Der Knaap, M. S. & Delatycki, M. B. (2021). Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 185 (10), pp.2941-2950. https://doi.org/10.1002/ajmg.a.62377.; http://hdl.handle.net/11343/298625

الاتاحة: http://hdl.handle.net/11343/298625

المؤلفون: Frazier, AE, Compton, AG, Kishita, Y, Hock, DH, Welch, AE, Amarasekera, SSC, Rius, R, Formosa, LE, Imai-Okazaki, A, Francis, D, Wang, M, Lake, NJ, Tregoning, S, Jabbari, JS, Lucattini, A, Nitta, KR, Ohtake, A, Murayama, K, Amor, DJ, McGillivray, G, Wong, FY, van der Knaap, MS, Vermeulen, RJ, Wiltshire, EJ, Fletcher, JM, Lewis, B, Baynam, G, Ellaway, C, Balasubramaniam, S, Bhattacharya, K, Freckmann, M-L, Arbuckle, S, Rodriguez, M, Taft, RJ, Sadedin, S, Cowley, MJ, Minoche, AE, Calvo, SE, Mootha, VK, Ryan, MT, Okazaki, Y, Stroud, DA, Simons, C, Christodoulou, J, Thorburn, DR

Relation: NHMRC/1140851; Frazier, A. E., Compton, A. G., Kishita, Y., Hock, D. H., Welch, A. E., Amarasekera, S. S. C., Rius, R., Formosa, L. E., Imai-Okazaki, A., Francis, D., Wang, M., Lake, N. J., Tregoning, S., Jabbari, J. S., Lucattini, A., Nitta, K. R., Ohtake, A., Murayama, K., Amor, D. J. ,. Thorburn, D. R. (2021). Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus. MED, 2 (1), pp.49-+. https://doi.org/10.1016/j.medj.2020.06.004.; http://hdl.handle.net/11343/292042

الاتاحة: http://hdl.handle.net/11343/292042

المؤلفون: van de Kamp, JM, Pouwels, PJW, Aarsen, Femke, ten Hoopen, L, Knol, DL, Klerk, Hans, Coo, IFM, Huijmans, Jan, Jakobs, C, van der Knaap, MS, Salomons, GS, Verheijen - Mancini, Grazia

المصدر: van de Kamp , JM , Pouwels , PJW , Aarsen , F , ten Hoopen , L , Knol , DL , Klerk , H , Coo , IFM , Huijmans , J , Jakobs , C , van der Knaap , MS , Salomons , GS & Verheijen - Mancini , G 2012 , ' Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect ' , Journal of Inherited Metabolic Disease , vol. 35 , pp. 141-149 . https://doi.org/10.1007/s10545-011-9345-1

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES045501, name=EMC NIHES-04-55-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/f7f04152-e080-4fac-94ae-80b5005340f2
https://doi.org/10.1007/s10545-011-9345-1
https://pure.eur.nl/ws/files/47166991/00411.pdf
http://hdl.handle.net/1765/25734

المؤلفون: Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Fabio RD, Piccolo F, Denis E, Cioni G, Massa R, Giustina ED, Calabrese O, Melone MA, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Brice A, Stevanin G, Santorelli F.M., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO

المساهمون: Denora, P, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, Mf, Boespflug Tanguy, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, F, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, Fabio, Rd, Piccolo, F, Denis, E, Cioni, G, Massa, R, Giustina, Ed, Calabrese, O, Melone, Ma, DE MICHELE, Giuseppe, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M, Zatz, M, Filla, Alessandro, Brice, A, Stevanin, G, Santorelli, F. M.

مصطلحات موضوعية: ARHSP, TCC, SPG11, Mutation screening

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000279979600005; volume:1050; issue:30; firstpage:500; lastpage:519; numberofpages:20; journal:HUMAN MUTATION; http://hdl.handle.net/11588/342172; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-61649106518

الاتاحة: http://hdl.handle.net/11588/342172
https://doi.org/10.1002/humu.20945