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1دورية أكاديمية
المؤلفون: Fereshtehnejad, SM, Ruel, M, Bourque, PR, Warman-Chardon, J, Kontolemos, M, Zwicker, J
المصدر: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. :1-3
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Lee, MM, McDowell, GS, De Vivo, DC, Friedman, D, Berkovic, SF, Spanou, M, Dinopoulos, A, Grand, K, Sanchez-Lara, PA, Allen-Sharpley, M, Warman-Chardon, J, Solyom, A, Levade, T, Schuchman, EH, Bennett, SAL, Dyment, DA, Pearson, TS
العلاقة: Lee, M. M., McDowell, G. S., De Vivo, D. C., Friedman, D., Berkovic, S. F., Spanou, M., Dinopoulos, A., Grand, K., Sanchez-Lara, P. A., Allen-Sharpley, M., Warman-Chardon, J., Solyom, A., Levade, T., Schuchman, E. H., Bennett, S. A. L., Dyment, D. A. & Pearson, T. S. (2022). The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 9 (12), pp.1941-1952. https://doi.org/10.1002/acn3.51687Test.; http://hdl.handle.net/11343/335240Test
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3دورية أكاديمية
المؤلفون: Pellerin, D, Aykanat, A, Ellezam, B, Troiano, EC, Karamchandani, J, Dicaire, M, Petitclerc, M, Robertson, R, Allard-Chamard, X, Brunet, D, Konersman, CG, Mathieu, J, Warman Chardon, J, Gupta, VA, Beggs, AH, Brais, B, Chrestian, N
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 48, issue s3, page S14-S15 ; ISSN 0317-1671 2057-0155
مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine
الإتاحة: https://doi.org/10.1017/cjn.2021.266Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167121002663Test -
4دورية أكاديمية
المؤلفون: Chelban V., Wilson M. P., Warman Chardon J., Vandrovcova J., Zanetti M. N., Zamba-Papanicolaou E., Efthymiou S., Pope S., Conte M. R., Abis G., Liu Y. -T., Tribollet E., Haridy N. A., Botia J. A., Ryten M., Nicolaou P., Minaidou A., Christodoulou K., Kernohan K. D., Eaton A., Osmond M., Ito Y., Bourque P., Jepson J. E. C., Bello O., Bremner F., Cordivari C., Reilly M. M., Foiani M., Heslegrave A., Zetterberg H., Heales S. J. R., Wood N. W., Rothman J. E., Boycott K. M., Mills P. B., Clayton P. T., Houlden H., Kriouile Y., Khorassani M. E., Aguennouz M., Groppa S., Marinova Karashova B., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J. S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M. D., van den Maagdenberg A. M. J. M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A. M., Garavaglia B., Borgione E., Portaro S., Sanchez B. M., Boles R., Papacostas S., Vikelis M., Rothman J., Giunti P., Salpietro V., Oconnor E., Kullmann D., Kaiyrzhanov R., Sullivan R., Khan A. M., Yau W. Y., Hostettler I., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Torti E., Zollo M., Heimer G., Dauvilliers Y. A., Striano P., Al-Khawaja I., Al-Mutairi F., Alkuraya F. S., Sherifa H., Rizig M., Okubadejo N. U., Ojo O. O., Oshinaike O. O., Wahab K., Bello A. H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Oguntunde O., Pchelina S., Senkevich K., Haridy N., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Bourinaris T., Xiromerisiou G., Fidani L., Spanaki C., Tucci A.
المساهمون: Chelban V., Wilson M.P., Warman Chardon J., Vandrovcova J., Zanetti M.N., Zamba-Papanicolaou E., Efthymiou S., Pope S., Conte M.R., Abis G., Liu Y.-T., Tribollet E., Haridy N.A., Botia J.A., Ryten M., Nicolaou P., Minaidou A., Christodoulou K., Kernohan K.D., Eaton A., Osmond M., Ito Y., Bourque P., Jepson J.E.C., Bello O., Bremner F., Cordivari C., Reilly M.M., Foiani M., Heslegrave A., Zetterberg H., Heales S.J.R., Wood N.W., Rothman J.E., Boycott K.M., Mills P.B., Clayton P.T., Houlden H., Kriouile Y., Khorassani M.E., Aguennouz M., Groppa S., Marinova Karashova B., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., van den Maagdenberg A.M.J.M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Rothman J., Giunti P., Salpietro V., Oconnor E., Kullmann D., Kaiyrzhanov R., Sullivan R., Khan A.M., Yau W.Y., Hostettler I., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Lim S.-Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C.
مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Dietary Supplement, Female, Gene Regulatory Network, Human, Male, Mutation, Polyneuropathie, Pyridoxal Kinase, Pyridoxal Phosphate, Treatment Outcome, Vitamin B Complex
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31187503; info:eu-repo/semantics/altIdentifier/wos/WOS:000473919500001; volume:86; issue:2; firstpage:225; lastpage:240; numberofpages:16; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/10447/407140Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068354982
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5دورية أكاديمية
المؤلفون: Esteller, D., Schiava, M., Villar-Quiles, R.N., Dibowski, B., Venturelli, N., Laforet, P., Alonso-Pérez, J., Olive, M., Domínguez-González, C., Paradas, C., Vélez, B., Kostera-Pruszczyk, A., Kierdaszuk, B., Rodolico, C., Claeys, K., Pál, E., Malfatti, E., Souvannanorath, S., Alonso-Jiménez, A., Ridder, W. de, Smet, E. de, Papadimas, G., Papadopoulos, C., Xirou, S., Luo, S., Muelas, N., Vilchez, J.J., Ramos-Fransi, A., Monforte, M., Tasca, G., Udd, B., Palmio, J., Sri, S., Krause, S., Schöser, B., Fernández-Torrón, R., Munain, A.L. de, Pegoraro, E., Farrugia, M.E., Vorgerd, M., Manousakis, G., Chanson, J.B., Nadaj-Pakleza, A., Cetin, H., Badrising, U., Warman-Chardon, J., Bevilacqua, J., Earle, N., Campero, M., Díaz, J., Ikenaga, C., Lloyd, T.E., Nishino, I., Nishimori, Y., Saito, Y., Oya, Y., Takahashi, Y., Nishikawa, A., Sasaki, R., Marini-Bettolo, C., Guglieri, M., Straub, V., Stojkovic, T., Carlier, R.Y., Díaz-Manera, J.
المصدر: Journal of Neurology
مصطلحات موضوعية: VCP myopathy, Multisystemic proteinopathy, Muscle MRI, Valosin
وصف الملف: application/pdf
العلاقة: https://link.springer.com/article/10.1007/s00415-023-11862-4Test; lumc-id: 185301271; https://hdl.handle.net/1887/3714447Test
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6دورية أكاديمية
المؤلفون: Chelban, V, Wilson, MP, Warman Chardon, J, Vandrovcova, J, Zanetti, MN, Zamba-Papanicolaou, E, Efthymiou, S, Pope, S, Conte, MR, Abis, G, Liu, Y-T, Tribollet, E, Haridy, NA, Botía, JA, Ryten, M, Nicolaou, P, Minaidou, A, Christodoulou, K, Kernohan, KD, Eaton, A, Osmond, M, Ito, Y, Bourque, P, Jepson, JEC, Bello, O, Bremner, F, Cordivari, C, Reilly, MM, Foiani, M, Heslegrave, A, Zetterberg, H, Heales, SJR, Wood, NW, Rothman, JE, Boycott, KM, Mills, PB, Clayton, PT, Houlden, H, Care4Rare Canada Consortium, ., SYNaPS Study Group, .
المصدر: Annals of Neurology (2019) (In press).
مصطلحات موضوعية: PDXK, optic atrophy, polyneuropathy, pyridoxal kinase, vitamin B6
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10076271/7/Abis_PDXK%20mutations%20cause%20polyneuropathy%20responsive%20to%20PLP%20supplementation_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10076271Test/
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7دورية أكاديمية
المؤلفون: Deguise, M, Beauvais, A, Baranello, G, Pileggi, C, Mastella, C, Tierney, A, Chehade, L, Leone, A, De Amicis, R, Battezzati, A, De Repentigny, Y, Warman Chardon, J, McMillan, HJ, Llavero-Hurtado, M, Huang, Y, Courtney, NL, Mole, AJ, Lamont, D, Atrih, A, Kubinski, S, Claus, P, Murray, LM, Wishart, TM, Bowerman, M, Gillingwater, TH, Harper, M, Bertoli, S, Parson, SH, Kothary, R
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 46, issue s1, page S32 ; ISSN 0317-1671 2057-0155
مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine
الإتاحة: https://doi.org/10.1017/cjn.2019.168Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167119001689Test -
8دورية أكاديمية
المؤلفون: Donkervoort, S., Mohassel, P., O'Leary, M., Hartley, T., Mozaffar, T., Saporta, M., Dyment, D., Austin-Tse, C., Verma, S., Hurth, K., Warman-Chardon, J., O'Donnell-Luria, A., Bönnemann, C.
المصدر: Neuromuscular Disorders ; volume 32, page S110 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016Test/j.nmd.2022.07.283
https://api.elsevier.com/content/article/PII:S0960896622004850?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896622004850?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Pellerin, D, Aykanat, A, Ellezam, B, Troiano, EC, Karamchandani, J, Dicaire, M, Petitclerc, M, Robertson, R, Allard-Chamard, X, Brunet, D, Konersman, CG, Mathieu, J, Warman Chardon, J, Gupta, VA, Beggs, AH, Brais, B, Chrestian, N
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 49, issue s1, page S3-S3 ; ISSN 0317-1671 2057-0155
مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine
الإتاحة: https://doi.org/10.1017/cjn.2022.93Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167122000932Test -
10دورية أكاديمية
المؤلفون: Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza‐Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.
المساهمون: Canadian Institutes of Health Research, Genome British Columbia
المصدر: Clinical Genetics ; volume 89, issue 3, page 275-284 ; ISSN 0009-9163 1399-0004
النص الكامل