المؤلفون: Kapoor, M., Carr, A., Foiani, M., Heslegrave, A., Zetterberg, Henrik, 1973, Malaspina, A., Compton, L., Hutton, E., Rossor, A., Reilly, M. M., Lunn, M. P.

المصدر: European Journal of Neurology. 29(11):3347-3357

مصطلحات موضوعية: Neurosciences, Neurovetenskaper, CIDP, disease activity, IVIg, neurofilament light chain, nerve society guideline, polyneuropathy, immunoglobulin, prognosis, Neurosciences & Neurology

الوصول الحر: https://gup.ub.gu.se/publication/317636Test

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; https://hdl.handle.net/11584/349343Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068354982

الإتاحة: https://doi.org/10.1002/ana.25524Test
https://hdl.handle.net/11584/349343Test

المؤلفون: Cortese A., Simone R., Sullivan R., Vandrovcova J., Tariq H., Yan Y. W., Humphrey J., Jaunmuktane Z., Sivakumar P., Polke J., Ilyas M., Tribollet E., Tomaselli P. J., Devigili G., Callegari I., Versino M., Salpietro V., Efthymiou S., Kaski D., Wood N. W., Andrade N. S., Buglo E., Rebelo A., Rossor A. M., Bronstein A., Fratta P., Marques W. J., Zuchner S., Reilly M. M., Houlden H.

المساهمون: Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yan, Y. W., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., Ilyas, M., Tribollet, E., Tomaselli, P. J., Devigili, G., Callegari, I., Versino, M., Salpietro, V., Efthymiou, S., Kaski, D., Wood, N. W., Andrade, N. S., Buglo, E., Rebelo, A., Rossor, A. M., Bronstein, A., Fratta, P., Marques, W. J., Zuchner, S., Reilly, M. M., Houlden, H.

مصطلحات موضوعية: Adult, Aged, Allele, Ataxia, Cerebellar Ataxia, Human, Intron, Male, Middle Aged, Repetitive Sequences, Nucleic Acid, Replication Protein C, Whole Genome Sequencing

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30926972; info:eu-repo/semantics/altIdentifier/wos/WOS:000462767500012; volume:51; firstpage:649; lastpage:658; numberofpages:10; journal:NATURE GENETICS; http://hdl.handle.net/11567/981603Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063902267

الإتاحة: https://doi.org/10.1038/s41588-019-0372-4Test
http://hdl.handle.net/11567/981603Test

المؤلفون: Fernández-Eulate, G., Theuriet, J., Record, C. J., Querin, G., Masingue, M., Leonard-Louis, S., Behin, A., Le Forestier, N., Pegat, A., Michaud, M., Chanson, J. B., Nadaj-Pakleza, A., Tard, Celine, Bedat-Millet, A. L., Sole, G., Spinazzi, M., Salort-Campana, E., Echaniz-Laguna, A., Poinsignon, V., Latour, P., Reilly, M. M., Bouhour, F., Stojkovic, T.

المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172

العلاقة: Neurol Genet; http://hdl.handle.net/20.500.12210/101762Test

الإتاحة: https://doi.org/20.500.12210/101762Test
https://hdl.handle.net/20.500.12210/101762Test

المؤلفون: Previtali S. C., Zhao E., Lazarevic D., Pipitone G. B., Fabrizi G. M., Manganelli F., Mazzeo A., Pareyson D., Schenone A., Taroni F., Vita G., Bellone E., Ferrarini M., Garibaldi M., Magri S., Padua L., Pennisi E., Pisciotta C., Riva N., Scaioli V., Scarlato M., Tozza S., Geroldi A., Jordanova A., Ferrari M., Molineris I., Reilly M. M., Comi G., Carrera P., Devoto M., Bolino A.

المساهمون: Previtali S.C., Zhao E., Lazarevic D., Pipitone G.B., Fabrizi G.M., Manganelli F., Mazzeo A., Pareyson D., Schenone A., Taroni F., Vita G., Bellone E., Ferrarini M., Garibaldi M., Magri S., Padua L., Pennisi E., Pisciotta C., Riva N., Scaioli V., Scarlato M., Tozza S., Geroldi A., Jordanova A., Ferrari M., Molineris I., Reilly M.M., Comi G., Carrera P., Devoto M., Bolino A.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31167812; info:eu-repo/semantics/altIdentifier/wos/WOS:000487463400015; volume:90; issue:10; firstpage:1171-1179; lastpage:1179; numberofpages:N/A; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; http://hdl.handle.net/2318/1719848Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066827085; http://jnnp.bmj.comTest/

الإتاحة: https://doi.org/10.1136/jnnp-2019-320717Test
http://hdl.handle.net/2318/1719848Test
http://jnnp.bmj.comTest/

المؤلفون: Manole A., Jaunmuktane Z., Hargreaves I., Ludtmann M. H. R., Salpietro V., Bello O. D., Pope S., Pandraud A., Horga A., Scalco R. S., Li A., Ashokkumar B., Lourenco C. M., Heales S., Horvath R., Chinnery P. F., Toro C., Singleton A. B., Jacques T. S., Abramov A. Y., Muntoni F., Hanna M. G., Reilly M. M., Revesz T., Kullmann D. M., Jepson J. E. C., Houlden H.

المساهمون: Manole, A., Jaunmuktane, Z., Hargreaves, I., Ludtmann, M. H. R., Salpietro, V., Bello, O. D., Pope, S., Pandraud, A., Horga, A., Scalco, R. S., Li, A., Ashokkumar, B., Lourenco, C. M., Heales, S., Horvath, R., Chinnery, P. F., Toro, C., Singleton, A. B., Jacques, T. S., Abramov, A. Y., Muntoni, F., Hanna, M. G., Reilly, M. M., Revesz, T., Kullmann, D. M., Jepson, J. E. C., Houlden, H.

مصطلحات موضوعية: Brown-Vialetto-Van Laere syndrome, riboflavin, SLC52A2, SLC52A3, Adolescent, Animal, Atrophy, Brain, Bulbar Palsy, Progressive, Child, Preschool, Citrate (si)-Synthase, Drosophila melanogaster, Electron Transport Complex I, Electron Transport Complex II, Electron Transport Complex III, Female, Fibroblast, Gene Knockdown Technique, Hearing Loss, Sensorineural, Human, In Vitro Technique, Infant, Locomotion, Longevity, Male, Membrane Transport Protein, Microscopy

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29053833; info:eu-repo/semantics/altIdentifier/wos/WOS:000414357800015; volume:140; firstpage:2820; lastpage:2837; numberofpages:18; journal:BRAIN; http://hdl.handle.net/11567/981533Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85032942874

الإتاحة: https://doi.org/10.1093/brain/awx231Test
http://hdl.handle.net/11567/981533Test

المؤلفون: Pagnamenta, A. T., Kaiyrzhanov, R., Zou, Y. Q., Da'as, S. I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M. P., Orioli, A., Giess, A., Tucci, A., Beetz, C., Sedghi, M., Ansari, B., Barresi, R., Basiri, K., Cortese, A., Elgar, G., Fernandez-Garcia, M. A., Yip, J., Foley, A. R., Gutowski, N., Jungbluth, H., Lassche, S., Lavin, T., Marcelis, C., Marks, P., Marini-Bettolo, C., Medne, L., Moslemi, Ali-Reza, Sarkozy, A., Reilly, M. M., Muntoni, F., Millan, F., Muraresku, C. C., Need, A. C., Nemeth, A. H., Neuhaus, S. B., Norwood, F., O'Donnell, M., O'Driscoll, M., Rankin, J., Yum, S. W., Zolkipli-Cunningham, Z., Brusius, I., Wunderlich, G., Karakaya, M., Wirth, B., Fakhro, K. A., Tajsharghi, H., Bonnemann, C. G., Taylor, J. C., Houlden, H.

المصدر: Brain : a journal of neurology. 144:584-600

مصطلحات موضوعية: Neurosciences, Neurovetenskaper, hereditary motor and sensory neuropathies, nerve conduction studies, EMG, genetics: neuropathy, whole-genome sequencing, matrix protein warp, zebrafish, mutations, model, genotype, sequence, genome, Neurosciences & Neurology

الوصول الحر: https://gup.ub.gu.se/publication/305559Test

المؤلفون: Pipis M., Cortese A., Polke J. M., Poh R., Vandrovcova J., Laura M., Skorupinska M., Jacquier A., Juntas-Morales R., Latour P., Petiot P., Sole G., Fromes Y., Shah S., Blake J., Choi B. -O., Chung K. W., Stojkovic T., Rossor A. M., Reilly M. M.

المساهمون: Pipis, M., Cortese, A., Polke, J. M., Poh, R., Vandrovcova, J., Laura, M., Skorupinska, M., Jacquier, A., Juntas-Morales, R., Latour, P., Petiot, P., Sole, G., Fromes, Y., Shah, S., Blake, J., Choi, B. -O., Chung, K. W., Stojkovic, T., Rossor, A. M., Reilly, M. M.

مصطلحات موضوعية: HMSN (Charcot-Marie-Tooth), neurogenetic, neuromuscular, neuropathy, Adult, Charcot-Marie-Tooth Disease, Exon, Female, Genotype, Heterozygote, Human, Intermediate Filament, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Neurofilament Protein, Neuron, Pedigree, Phenotype, Sural Nerve, Young Adult

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34518334; info:eu-repo/semantics/altIdentifier/wos/WOS:000725045300001; volume:93; issue:1; firstpage:48; lastpage:56; numberofpages:9; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; http://hdl.handle.net/11571/1450133Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122772584; https://jnnp.bmj.com/content/93/1/48Test

الإتاحة: https://doi.org/10.1136/jnnp-2021-327186Test
http://hdl.handle.net/11571/1450133Test
https://jnnp.bmj.com/content/93/1/48Test

المؤلفون: Cortese A., Curro' R., Vegezzi E., Yau W. Y., Houlden H., Reilly M. M.

المساهمون: Cortese, A., Curro', R., Vegezzi, E., Yau, W. Y., Houlden, H., Reilly, M. M.

مصطلحات موضوعية: cerebellar ataxia, neurogenetic, neuropathy, Human, Vestibular System, Bilateral Vestibulopathy, Peripheral Nervous System Disease, Vestibular Diseases

وصف الملف: STAMPA

العلاقة: volume:22; firstpage:14; lastpage:18; numberofpages:5; journal:PRACTICAL NEUROLOGY; http://hdl.handle.net/11571/1450128Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123814165; https://pn.bmj.com/content/22/1/14Test

الإتاحة: https://doi.org/10.1136/practneurol-2020-002822Test
http://hdl.handle.net/11571/1450128Test
https://pn.bmj.com/content/22/1/14Test

المؤلفون: Manganelli, F, Pisciotta, C., Reilly, M. M., Tozza, S., Schenone, A., Fabrizi, G. M., Cavallaro, T., VITA, Giuseppe, Padua, L., Gemignani, F., Laurà, M., Hughes, R. A. C., Solari, A., Pareyson, D., Santoro, L., Nolano, Maria, Iodice, Rosa, Grandis, Marina, Cabrini, Ilaria, Bertolasi, Laura, MAZZEO, Anna, Majorana, Giovanni, Vitetta, Francesca, Scaioli, Vidmer, Ciano, Claudia, Calabrese, Daniela, Quattrone, Aldo, Blake, Julian

المساهمون: Manganelli, F, Pisciotta, C., Reilly, M. M., Tozza, S., Schenone, A., Fabrizi, G. M., Cavallaro, T., Vita, Giuseppe, Padua, L., Gemignani, F., Laurà, M., Hughes, R. A. C., Solari, A., Pareyson, D., Santoro, L., Nolano, Maria, Iodice, Rosa, Grandis, Marina, Cabrini, Ilaria, Bertolasi, Laura, Mazzeo, Anna, Majorana, Giovanni, Vitetta, Francesca, Scaioli, Vidmer, Ciano, Claudia, Calabrese, Daniela, Quattrone, Aldo, Blake, Julian

مصطلحات موضوعية: Charcot−Marie−Tooth disease, CMT-TRIAAL/CMT-TRAUK, CMT1A, hereditary neuropathie, nerve conduction velocity, Neurology, Neurology (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27412484; info:eu-repo/semantics/altIdentifier/wos/WOS:000387364300012; volume:23; issue:10; firstpage:1566; lastpage:1571; numberofpages:6; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/11570/3099767Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84987752669; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603914Test/

الإتاحة: https://doi.org/10.1111/ene.13079Test
http://hdl.handle.net/11570/3099767Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603914Test/