المؤلفون: Mereaux, JL, Firanescu, C, Coarelli, G, Kvarnung, M, Rodrigues, R, Pegoraro, E, Tazir, M, Taithe, F, Valter, R, Huin, V, Lidstrom, K, Banneau, G, Morais, S, Parodi, L, Coutelier, M, Papin, M, Svenningsson, P, Azulay, JP, Alonso, I, Nilsson, D, Brice, A, Le Guern, E, Press, R, Vazza, G, Loureiro, JL, Goizet, C, Durr, A, Paucar, M, Stevanin, G

المصدر: Neurogenetics. 22(1):71-79

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145710632

المؤلفون: Davion, J.B., Coku, I., Wissocq, A., Genet, A., Poupart, J., Defebvre, L., Huin, V.

المساهمون: Centre hospitalier régional universitaire de Lille, Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease, Labex, Institut National de la Santé et de la Recherche Médicale, Université de Lille

المصدر: Heliyon ; volume 10, issue 21, page e39891 ; ISSN 2405-8440

الاتاحة: https://doi.org/10.1016/j.heliyon.2024.e39891
https://api.elsevier.com/content/article/PII:S2405844024159221?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2405844024159221?httpAccept=text/plain

المؤلفون: Currò, R., Dominik, N., Facchini, S., Vegezzi, E., Sullivan, R., Galassi Deforie, V., Fernández-Eulate, G., Traschütz, A., Rossi, S., Garibaldi, M., Kwarciany, M., Taroni, F., Brusco, A., Good, J.-M., Cavalcanti, F., Hammans, S., Ravenscroft, G., Roxburgh, R.H., Albájar, I., Ashton, C., Beauchamp, N., Beecroft, S.J., Bellone, E., Berciano, J., Bogdanova-Mihaylova, P., Borroni, B., Brais, B., Bugiardini, E., Campos, C., Carr, A., Carroll, L., Castellani, F., Cavallaro, T., Chinnery, P.F., Colnaghi, S., Cosentino, G., Damasio, J., Das, S., Devigili, G., Di Bella, D., Dick, D., Durr, A., El-Saddig, A., Faber, J., Ferrarini, M., Filosto, M., Fuller, G., Gallone, S., Gemelli, C., Grandis, M., Hardy, J., Hewamadduma, C., Horvath, R., Huin, V., Imperiale, D., Iruzubieta, P., Kaski, D., King, A., Klockgether, T., Koç, M., Kumar, K.R., Kuntzer, T., Laing, N., Laurà, M., Lavin, T., Leigh, P.N., Leonardis, L., Lunn, M.P., Magri, S., Magrinelli, F., Malaquias, M.J., Mancuso, M., Manji, H., Massucco, S., McConville, J., Munhoz, R.P., Nagy, S., Ndayisaba, A., Nemeth, A.H., Novis, L.E., Palmio, J., Pegoraro, E., Pellerin, D., Perrone, B., Pisciotta, C., Polke, J., Proudfoot, M., Orsi, L., Radunovic, A., Riva, N., Robert, A., Ronco, R., Rossini, E., Rossor, A.M., Şahbaz, I., Sa’di, Q., Salsano, E., Salvalaggio, A., Santoro, L., Sarto, E., Schaefer, A., Schenone, A., Scriba, C., Shaw, J., Silvestri, G., Stevens, J., Strupp, M., Sumner, C.J., Szymura, A., Tagliapietra, M., Tassorelli, C., Tessa, A., Theaudin, M., Tomaselli, P., Tozza, S., Tucci, A., Valente, E.M., Versino, M., Walsh, R.A., Wood, N.W., Yau, W.Y., Zuchner, S., Parolin Schnekenberg, R., Rugginini, B., Abati, E., Manini, A., Quartesan, I., Ghia, A., Lòpez de Munaìn, A., Manganelli, F., Kennerson, M., Santorelli, F.M., Infante, J., Marques, W., Jokela, M., Murphy, S.M., Mandich, P., Fabrizi, G.M., Briani, C., Gosal, D., Pareyson, D., Ferrari, A., Prados, F., Yousry, T., Khurana, V., Kuo, S.-H., Miller, J., Troakes, C., Jaunmuktane, Z., Giunti, P., Hartmann, A., Basak, N., Synofzik, M., Stojkovic, T., Hadjivassiliou, M., Reilly, M.M., Houlden, H., Cortese, A.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/216742/1/awad436.pdf; Currò, R., Dominik, N., Facchini, S. et al. (155 more authors) (2024) Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain, 147 (5). pp. 1887-1898. ISSN 0006-8950

الاتاحة: https://eprints.whiterose.ac.uk/216742/
https://eprints.whiterose.ac.uk/216742/1/awad436.pdf

المؤلفون: Delforge, V., Tard, C., Davion, J.-B., Dujardin, K., Wissocq, A., Dhaenens, C.-M., Mutez, E., Huin, V.

المساهمون: Centre hospitalier régional universitaire de Lille, University of Lille, Labex, Université de Lille, Chung Hua University

المصدر: Revue Neurologique ; ISSN 0035-3787

الاتاحة: http://dx.doi.org/10.1016/j.neurol.2024.03.006
https://api.elsevier.com/content/article/PII:S0035378724004843?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0035378724004843?httpAccept=text/plain

المؤلفون: Mutez, Eugénie, Swiderski, M., Devos, D., Moreau, C., Baille, G., Degardin, A., Ryckewaert, G., Carriere, N., Kreisler, A., Simonin, C., Rouaix, N., Tir, M., Krystkowiak, P., Ramdane, N., Génin, M., Sablonnière, B., Defebvre, L., Huin, V.

المساهمون: Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Université de Lille, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille

المصدر: ISSN: 1351-5101.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: hal-04330019; https://hal.science/hal-04330019; https://hal.science/hal-04330019/document; https://hal.science/hal-04330019/file/Euro%20J%20of%20Neurology%20-%202023%20-%20Mutez%20-%20Indication%20for%20molecular%20testing%20by%20multiplex%20ligation%E2%80%90dependent%20probe%20amplification.pdf

الاتاحة: https://hal.science/hal-04330019
https://hal.science/hal-04330019/document
https://hal.science/hal-04330019/file/Euro%20J%20of%20Neurology%20-%202023%20-%20Mutez%20-%20Indication%20for%20molecular%20testing%20by%20multiplex%20ligation%E2%80%90dependent%20probe%20amplification.pdf
https://doi.org/10.1111/ene.15788

المؤلفون: Bezou, N., Davion, J.B., Huin, V., Cardon, T., Defebvre, L., Tard, C.

المصدر: Pratique Neurologique - FMC ; volume 14, issue 3, page 182-183 ; ISSN 1878-7762

الاتاحة: http://dx.doi.org/10.1016/j.praneu.2023.02.002
https://api.elsevier.com/content/article/PII:S1878776223000444?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878776223000444?httpAccept=text/plain

المؤلفون: Currò, R, Dominik, N, Facchini, S, Vegezzi, E, Sullivan, R, Galassi Deforie, V, Fernández-Eulate, G, Traschütz, A, Rossi, S, Garibaldi, M, Kwarciany, M, Taroni, F, Brusco, A, Good, JM, Cavalcanti, F, Hammans, S, Ravenscroft, G, Roxburgh, RH, Albájar, I, Ashton, C, Beauchamp, N, Beecroft, SJ, Bellone, E, Berciano, Bogdanova-Mihaylova, P, Borroni, B, Brais, B, Bugiardini, E, Campos, C, Carr, A, Carroll, L, Castellani, F, Cavallaro, T, Chinnery, PF, Colnaghi, S, Cosentino, G, Damasio, J, Das, S, Devigili, G, Di Bella, D, Dick, D, Durr, A, El-Saddig, A, Faber, J, Ferrarini, M, Filosto, M, Fuller, G, Gallone, S, Gemelli, C, Grandis, M, Hardy, J, Hewamadduma, C, Horvath, R, Huin, V, Imperiale, D, Iruzubieta, P, Kaski, D, King, A, Klockgether, T, Koç, M, Lavin, T, Leigh, PN, Leonardis, L, Lunn, MP, Magri, S, Magrinelli, F, Malaquias, MJ, Mancuso, M, Manji, H, Massucco, S, McConville, J, Munhoz, RP, Nagy, S, Ndayisaba, A, Nemeth, AH, Novis, LE, Palmio, J, Pegoraro, E, Pellerin, D, Perrone, B, Pisciotta, C, Polke, J, Proudfoot, M, Orsi, L, Radunovic, A, Riva, N, Robert, A, Ronco, R, Rossini, E, Rossor, AM, Ažahbaz, I, Sa'Di, Q, Salsano, E, Salvalaggio, A, Santoro, L, Sarto, E, Schaefer, A, Schenone, A, Scriba, C, Shaw, J, Silvestri, G, Stevens, J, Strupp, M, Sumner, CJ, Szymura, A, Tagliapietra, M, Tassorelli, C, Tessa, A, Theaudin, M, Tomaselli, P, Tozza, S, Tucci, A, Valente, EM, Versino, M, Walsh, RA, Wood, NW, Yau, WY, Zuchner, S, Parolin Schnekenberg, R, Rugginini, B, Abati, E, Manini, A, Quartesan, I, Ghia, A, Lòpez De Munaìn, A, Manganelli, F, Kennerson, M, Santorelli, FM, Infante, J, Marques, W, Jokela, M, Murphy, SDSM, Mandich, P, Fabrizi, GM, Briani, C, Gosal, D, Pareyson, D, Ferrari, A, Prados, F, Yousry, T, Khurana, V, Kuo, Sheng-H, Miller, J, Troakes, C, Jaunmuktane, Z, Giunti, P, Hartmann, A, Basak, N, Synofzik, M, Stojkovic, T, Hadjivassiliou, M, Reilly, M M, Houlden, H, Cortese, A

المساهمون: Currò, R, Dominik, N, Facchini, S, Vegezzi, E, Sullivan, R, Galassi Deforie, V, Fernández-Eulate, G, Traschütz, A, Rossi, S, Garibaldi, M, Kwarciany, M, Taroni, F, Brusco, A, Good, Jm, Cavalcanti, F, Hammans, S, Ravenscroft, G, Roxburgh, Rh, Albájar, I, Ashton, C, Beauchamp, N, Beecroft, Sj, Bellone, E, Berciano, Bogdanova-Mihaylova, P, Borroni, B, Brais, B, Bugiardini, E, Campos, C, Carr, A, Carroll, L, Castellani, F, Cavallaro, T, Chinnery, Pf, Colnaghi, S, Cosentino, G, Damasio, J, Das, S, Devigili, G, Di Bella, D, Dick, D, Durr, A, El-Saddig, A, Faber, J, Ferrarini, M, Filosto, M, Fuller, G, Gallone, S, Gemelli, C, Grandis, M, Hardy, J, Hewamadduma, C, Horvath, R, Huin, V, Imperiale, D, Iruzubieta, P, Kaski, D, King, A, Klockgether, T, Koç, M, Lavin, T, Leigh, Pn, Leonardis, L, Lunn, Mp, Magri, S, Magrinelli, F, Malaquias, Mj, Mancuso, M, Manji, H, Massucco, S, Mcconville, J, Munhoz, Rp, Nagy, S, Ndayisaba, A, Nemeth, Ah, Novis, Le, Palmio, J, Pegoraro, E, Pellerin, D, Perrone, B, Pisciotta, C, Polke, J, Proudfoot, M, Orsi, L, Radunovic, A, Riva, N, Robert, A, Ronco, R, Rossini, E, Rossor, Am, Ažahbaz, I, Sa'Di, Q, Salsano, E, Salvalaggio, A, Santoro, L, Sarto, E, Schaefer, A, Schenone, A, Scriba, C, Shaw, J

مصطلحات موضوعية: CANVAS, RFC1, ataxia, neuropathy, repeat expansion, southern blotting

Relation: info:eu-repo/semantics/altIdentifier/pmid/38193360; info:eu-repo/semantics/altIdentifier/wos/WOS:001207431000001; volume:147; issue:5; firstpage:1887; lastpage:1898; numberofpages:12; journal:BRAIN; https://hdl.handle.net/11383/2185843

الاتاحة: https://hdl.handle.net/11383/2185843
https://doi.org/10.1093/brain/awad436

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10141005/1/awab449%20%281%29.pdf; https://discovery.ucl.ac.uk/id/eprint/10141005/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10141005/1/awab449%20%281%29.pdf
https://discovery.ucl.ac.uk/id/eprint/10141005/

المؤلفون: Mutez, E., Swiderski, M., Devos, D., Moreau, C., Baille, G., Degardin, A., Ryckewaert, G., Carriere, N., Kreisler, A., Simonin, C., Rouaix, N., Tir, M., Krystkowiak, P., Ramdane, N., Génin, M., Sablonnière, B., Defebvre, L., Huin, V.

المصدر: European Journal of Neurology; Jun2023, Vol. 30 Issue 6, p1667-1675, 9p

مصطلحات موضوعية: LEWY body dementia, PARKINSONIAN disorders, PARKINSON'S disease, GENETIC testing, GENETIC variation

المؤلفون: Marchand, F., moreau, caroline, Kuchcinski, G., Huin, V., Defebvre, L., DEVOS, DAVID

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

Relation: Mov Disord; http://hdl.handle.net/20.500.12210/77086

الاتاحة: https://hdl.handle.net/20.500.12210/77086

المؤلفون: Blum, David, Gomez-Murcia, K., K., Carvalho, Dumoulin, M., E., Faivre, C., Montmasson, C., Mériaux, Huin, V., Caillierez, R., Eddarkaoui, S., Bégard, S., Wisztorski, M., Fournier, I., Deglon, N., Bemelmans, A., Hamdane, M., Chern, Y., Buee, L., Boutillier, A.-L., Halle, A., Lévi, Sabine, Lopes, L.

المساهمون: Institut du Fer à Moulin (IFM - Inserm U1270 - SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: AD/PD virtual meeting ; https://hal.sorbonne-universite.fr/hal-03974273 ; AD/PD virtual meeting, Sep 2021, virtual meeting, France

مصطلحات موضوعية: [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

جغرافية الموضوع: virtual meeting, France

Relation: hal-03974273; https://hal.sorbonne-universite.fr/hal-03974273

الاتاحة: https://hal.sorbonne-universite.fr/hal-03974273

المؤلفون: Mutez, Eugenie, Swiderski, M., DEFEBVRE, Luc, Chartier Harlin, Marie-Christine, Huin, V.

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

Relation: Mov. Disord.; http://hdl.handle.net/20.500.12210/70136

الاتاحة: https://hdl.handle.net/20.500.12210/70136

المؤلفون: Huin, V., Barbier, M., Durr, A., Le Ber, I.

المساهمون: Université de Lille, Inserm, CHU Lille

Relation: Brain; http://hdl.handle.net/20.500.12210/69557

الاتاحة: https://hdl.handle.net/20.500.12210/69557

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

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

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

Relation: Brain; http://hdl.handle.net/20.500.12210/69295

الاتاحة: https://hdl.handle.net/20.500.12210/69295

المؤلفون: Wang, Z. H., Xia, Y., Wu, Z., Kang, S. S., Zhang, J. C., Liu, P., Liu, X., Song, W., Huin, V., Dhaenens, C. M., Yu, S. P., Wang, X. C., Ye, K.

المساهمون: Université de Lille, Inserm, CHU Lille

مصطلحات موضوعية: Animal model, ApoE4, C/EBP beta, Transcription factor, Alzheimer's disease

Relation: Prog Neurobiol; http://hdl.handle.net/20.500.12210/69294

الاتاحة: https://hdl.handle.net/20.500.12210/69294

المؤلفون: Chang, C. P., Chang, Y. G., Chuang, P. Y., Nguyen, T. N. A., Wu, K. C., Chou, F. Y., Cheng, S. J., Chen, H. M., Jin, L. W., Carvalho, K., Huin, V., Buee, Luc, Liao, Y. F., Lin, C. J., Blum, David, Chern, Y.

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

مصطلحات موضوعية: ENT1, AMPK, Adenosine, Tauopathy, Alzheimer's disease

Relation: Acta Neuropathol Commun; http://hdl.handle.net/20.500.12210/69444

الاتاحة: https://hdl.handle.net/20.500.12210/69444

المؤلفون: Méreaux, J. L., Firanescu, C., Coarelli, G., Kvarnung, M., Rodrigues, R., Pegoraro, E., Tazir, M., Taithe, F., Valter, R., Huin, V., Lidström, K., Banneau, G., Morais, S., Parodi, L., Coutelier, M., Papin, M., Svenningsson, P., Azulay, J. P., Alonso, I., Nilsson, D., Brice, A., Le Guern, E., Press, R., Vazza, G., Loureiro, J. L., Goizet, C., Durr, A., Paucar, M., Stevanin, G.

المساهمون: Université de Lille, Inserm, CHU Lille

مصطلحات موضوعية: Cerebellar ataxia, Spastic paraplegia, Neurodegeneration, Spastic ataxia, CAPN1

Relation: neurogenetics; http://hdl.handle.net/20.500.12210/69562

الاتاحة: https://hdl.handle.net/20.500.12210/69562

المؤلفون: Huin, V., Barbier, M., Durr, A., Le Ber, I.

المساهمون: Université de Lille, Inserm, CHU Lille

Relation: Brain; http://hdl.handle.net/20.500.12210/69543

الاتاحة: https://hdl.handle.net/20.500.12210/69543

المؤلفون: Carneiro, F., Saracino, D., Huin, V., Clot, F., Delorme, C., Méneret, A., Thobois, S., Cormier, F., Corvol, J. C., Lenglet, T., Vidailhet, M., Habert, M. O., Gabelle, A., Beaufils, É., Mondon, K., Tir, M., Andriuta, D., Brice, A., Deramecourt, V., Le Ber, I.

المساهمون: Université de Lille, Inserm, CHU Lille

مصطلحات موضوعية: TDP-43, CBS, PSP, FTLD, FTD, Parkinsonism, Parkinson's disease, GRN, C9orf72

Relation: Parkinsonism Relat. Disord.; http://hdl.handle.net/20.500.12210/69593

الاتاحة: https://hdl.handle.net/20.500.12210/69593

المؤلفون: Delplanque, J., DEVOS, DAVID, Huin, V., Genet, A., Sand, Olivier, moreau, caroline, Goizet, C., Charles, P., Anheim, M., Monin, M. L., Buee, Luc, Destee, A., Grolez, G., Delmaire, Christine, Dujardin, Kathy, Dellacherie, D., Brice, A., Stevanin, G., Strubi-Vuillaume, I., Durr, A., Sablonniere, Bernard

المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172, Troubles cognitifs dégénératifs et vasculaires - U1171

مصطلحات موضوعية: exome, TMEM240, spinocerebellar ataxia

Relation: Brain; http://hdl.handle.net/20.500.12210/69732

الاتاحة: https://hdl.handle.net/20.500.12210/69732