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: Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Mignot C, Heron D, Drunat S, Verloes A, Moore R, Metcalfe A, Kohler S, Zonneveld-Huijssoon E, Kerstjens Frederikse WS, Abbott KM, van Gijn M, Ruvolo D, Roelofs-Prins D, Neerincx PB, van der Vries G, van der Velde JK, Swertz MA, Carneiro F, Ferreira P, Garrido L, Fernandes S, Gullo I, Ferreira M, Jose CS, Barbosa-Matos R, Peters S, Sommer AK, Spier I, Aretz S, Neri M, Bigoni S, Gualandi F, Selvatici R, Ferlini A, Piluso G, Zanobio M, Zeuli R, Torella A, Banfi S, Pinelli M, Morleo M, Nigro V, Smal N, Millevert C, Stamberger H, Weckhuysen S, De Ridder W, Van de Vondel L, de Jonghe P, De Winter J, de Vries G, Baets J, Timmerman V, Muller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Rohrer J, Moloney P, Bellampalli R, Sisodiya SM, Magrinelli F, Cali E, Morsy H, Efthymiou S, Vandrovcova J, Reilly M, Houlden H, Hanna M, Costa A, Robert G, Danis D, Robinson P, Spalding D, Thomas C, Freeberg M, Keane T, Parkinson H, Krebsova A, Dolezalova P, Liskova P, Ryba L, Havlovicova M, Frankova V, Kremlikova RP, Thomasova D, Turnovec M, Macek M, Stojkovic T, Atalaia A, Cohen E, Eymard B, Metay C, Ben Yaou R, Nelson I, Allamand V, Evangelista T, Bonne G, Coarelli G, Heinzmann A, Guillot-Noel L, Davoine C-S, Durr A, Stevanin G, Lebreton E, Lucano C, Chahdil M, Hongnat O, Lagorce D, Hanauer M, Rath A, Bros-Facer V, Gumus G, Raineri E, Gut M, Dabad M, Codina AE, Pico D, Hernandez C, Fernandez-Callejo M, Corvo A, Papakonstantinou A, Matalonga L, Piscia D, Gut IG, Couturier V, Bruel A-L, Duffourd Y, Denomme-Pichon A-S, Vitobello A, Thauvin C, Faivre L, Jackson A, Alexander E, Banka S, Clayton-Smith J, Engelhardt K, Hambleton S, Manera JD, Bettolo CM, Straub V

المصدر: npj Genomic Medicine, December 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/302269; https://eprints.ncl.ac.uk/fulltext.aspx?url=302269/ECBA270E-5F19-4FD7-9F25-70B5F6B6D7ED.pdf&pub_id=302269

الاتاحة: https://eprints.ncl.ac.uk/302269

المؤلفون: Nagy, S, Carr, A, Mroczek, M, Rinaldi, S, Curro, R, Dominik, N, Japzon, N, Magrinelli, F, Lunn, MP, Manji, H, Reilly, MM, Cortese, A, Houlden, H

Relation: https://ora.ox.ac.uk/objects/uuid:3b028e4d-01b6-4ab5-ac8e-e242621f58d8; https://doi.org/10.1093/braincomms/fcae163

الاتاحة: https://doi.org/10.1093/braincomms/fcae163
https://ora.ox.ac.uk/objects/uuid:3b028e4d-01b6-4ab5-ac8e-e242621f58d8

المؤلفون: Wijngaard, R, Demidov, G, O’Gorman, L, Corominas-Galbany, J, Yaldiz, B, Steyaert, W, de Boer, E, Vissers, LELM, Kamsteeg, EJ, Pfundt, R, Swinkels, H, den Ouden, A, te Paske, IBAW, de Voer, RM, Faivre, L, Denommé-Pichon, AS, Duffourd, Y, Vitobello, A, Chevarin, M, Straub, V, Töpf, A, van der Kooi, AJ, Magrinelli, F, Rocca, C, Hanna, MG, Vandrovcova, J, Ossowski, S, Laurie, S, Gilissen, C

المصدر: European Journal of Human Genetics (2023)

مصطلحات موضوعية: Solve-RD consortium

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10182476/1/Hanna_Mobile%20element%20insertions%20in%20rare%20diseases-%20a%20comparative%20benchmark%20and%20reanalysis%20of%2060,000%20exome%20samples_correction_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10182476/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10182476/1/Hanna_Mobile%20element%20insertions%20in%20rare%20diseases-%20a%20comparative%20benchmark%20and%20reanalysis%20of%2060,000%20exome%20samples_correction_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10182476/

المؤلفون: Wijngaard, R, Demidov, G, O’Gorman, L, Corominas-Galbany, J, Yaldiz, B, Steyaert, W, de Boer, E, Vissers, LELM, Kamsteeg, EJ, Pfundt, R, Swinkels, H, den Ouden, A, te Paske, IBAW, de Voer, RM, Faivre, L, Denommé-Pichon, AS, Duffourd, Y, Vitobello, A, Chevarin, M, Straub, V, Töpf, A, van der Kooi, AJ, Magrinelli, F, Rocca, C, Hanna, MG, Vandrovcova, J, Ossowski, S, Laurie, S, Gilissen, C

المصدر: European Journal of Human Genetics (2023) (In press).

مصطلحات موضوعية: Solve-RD consortium

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10180214/1/s41431-023-01478-7.pdf; https://discovery.ucl.ac.uk/id/eprint/10180214/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10180214/1/s41431-023-01478-7.pdf
https://discovery.ucl.ac.uk/id/eprint/10180214/

المؤلفون: Zago E., Dal Molin A., Dimitri G. M., Xumerle L., Pirazzini C., Bacalini M. G., Maturo M. G., Azevedo T., Spasov S., Gomez-Garre P., Perinan M. T., Jesus S., Baldelli L., Sambati L., Calandra-Buonaura G., Garagnani P., Provini F., Cortelli P., Mir P., Trenkwalder C., Mollenhauer B., Franceschi C., Lio P., Nardini C., Adarmes-Gomez A., Bartoletti-Stella A., Bhatia K. P., Marta B. -T., Boninsegna C., Broli M., Dolores B. -R., Capellari S., Carrion-Claro M., Cilea R., Clayton R., Molin A. D., De Luca S., De Massis P., Doykov I., Escuela-Martin R., Fabbri G., Gabellini A., Giuliani C., Guaraldi P., Hagg S., Hallqvist J., Halsband C., Heywood W., Houlden H., Huertas I., Jylhava J., Labrador-Espinosa M. A., Licari C., Luchinat C., Macias D., Macri S., Magrinelli F., Rodriguez J. F. M., Massimo D., Mengozzi G., Meoni G., Mignani F., Milazzo M., Mills K., Nassetti S. A., Pedersen N. L., Perinan-Tocino M. T., Ravaioli F., Sala C., Scaglione C. L. M., Schade S., Schreglmann S., Strom S., Tejera-Parrado C., Tenori L., Turano P., Valzania F., Ortega R. V., Williams D.

المساهمون: Zago, E., Dal Molin, A., Dimitri, G. M., Xumerle, L., Pirazzini, C., Bacalini, M. G., Maturo, M. G., Azevedo, T., Spasov, S., Gomez-Garre, P., Perinan, M. T., Jesus, S., Baldelli, L., Sambati, L., Calandra-Buonaura, G., Garagnani, P., Provini, F., Cortelli, P., Mir, P., Trenkwalder, C., Mollenhauer, B., Franceschi, C., Lio, P., Nardini, C., Adarmes-Gomez, A., Bartoletti-Stella, A., Bhatia, K. P., Marta, B. -T., Boninsegna, C., Broli, M., Dolores, B. -R., Capellari, S., Carrion-Claro, M., Cilea, R., Clayton, R., Molin, A. D., De Luca, S., De Massis, P., Doykov, I., Escuela-Martin, R., Fabbri, G., Gabellini, A., Giuliani, C., Guaraldi, P., Hagg, S., Hallqvist, J., Halsband, C., Heywood, W., Houlden, H., Huertas, I., Jylhava, J., Labrador-Espinosa, M. A., Licari, C., Luchinat, C., Macias, D., Macri, S., Magrinelli, F., Rodriguez, J. F. M., Massimo, D., Mengozzi, G., Meoni, G., Mignani, F., Milazzo, M., Mills, K., Nassetti, S. A., Pedersen, N. L., Perinan-Tocino, M. T., Ravaioli, F., Sala, C., Scaglione, C. L. M., Schade, S., Schreglmann, S., Strom, S., Tejera-Parrado, C., Tenori, L., Turano, P., Valzania, F., Ortega, R. V., Williams, D.

مصطلحات موضوعية: Aged, Aging, Biomarker, Cohort Studie, Female, Human, Male, MicroRNA, Middle Aged, Parkinson Disease

Relation: info:eu-repo/semantics/altIdentifier/pmid/35079043; info:eu-repo/semantics/altIdentifier/wos/WOS:000747291900029; volume:12; issue:1; numberofpages:13; journal:SCIENTIFIC REPORTS; https://hdl.handle.net/11573/1721233

الاتاحة: https://hdl.handle.net/11573/1721233
https://doi.org/10.1038/s41598-022-05227-6

المؤلفون: Meoni G., Tenori L., Schade S., Licari C., Pirazzini C., Bacalini M. G., Garagnani P., Turano P., Molin A. D., Bartoletti-Stella A., Gabellini A., Adarmes-Gomez A. D., Scaglione C. L. M., Nardini C., Rosaria C., Boninsegna C., Sala C., Giuliani C., Tejera-Parrado C., Macias D., Buiza-Rueda D., Williams D., Zago E., Provini F., Magrinelli F., Mignani F., Ravaioli F., Valzania F., Sixel-Doring F., Mengozzi G., Calandra-Buonaura G., Dimitri G. M., Fabbri G., Houlden H., Huertas I., Doykov I., Hallqvist J., Rodriguez J. F. M., Jylhava J., Bhatia K. P., Mills K., Baldelli L., Xumerle L., Sambati L., Milazzo M., Broli M., Maturo M. G., Perinan-Tocino M. T., Carrion-Claro M., Bonilla-Toribio M., Delledonne M., Labrador-Espinosa M. A., Pedersen N. L., Mir P., De Massis P., Cortelli P., Guaraldi P., Lio P., Gomez-Garre P., Clayton R., Escuela-Martin R., Ortega R. V., Capellari S., Hagg S., Schreglmann S. R., De Luca S., Spasov S., Nassetti S. A., Macri S., Azevedo T., Heywood W., Trenkwalder C., Franceschi C., Mollenhauer B., Luchinat C.

المساهمون: Meoni, G., Tenori, L., Schade, S., Licari, C., Pirazzini, C., Bacalini, M. G., Garagnani, P., Turano, P., Molin, A. D., Bartoletti-Stella, A., Gabellini, A., Adarmes-Gomez, A. D., Scaglione, C. L. M., Nardini, C., Rosaria, C., Boninsegna, C., Sala, C., Giuliani, C., Tejera-Parrado, C., Macias, D., Buiza-Rueda, D., Williams, D., Zago, E., Provini, F., Magrinelli, F., Mignani, F., Ravaioli, F., Valzania, F., Sixel-Doring, F., Mengozzi, G., Calandra-Buonaura, G., Dimitri, G. M., Fabbri, G., Houlden, H., Huertas, I., Doykov, I., Hallqvist, J., Rodriguez, J. F. M., Jylhava, J., Bhatia, K. P., Mills, K., Baldelli, L., Xumerle, L., Sambati, L., Milazzo, M., Broli, M., Maturo, M. G., Perinan-Tocino, M. T., Carrion-Claro, M., Bonilla-Toribio, M., Delledonne, M., Labrador-Espinosa, M. A., Pedersen, N. L., Mir, P., De Massis, P., Cortelli, P., Guaraldi, P., Lio, P., Gomez-Garre, P., Clayton, R., Escuela-Martin, R., Ortega, R. V., Capellari, S., Hagg, S., Schreglmann, S. R., De Luca, S., Spasov, S., Nassetti, S. A., Macri, S., Azevedo, T., Heywood, W., Trenkwalder, C., Franceschi, C., Mollenhauer, B., Luchinat, C.

مصطلحات موضوعية: acetone, apolipoprotein A1, cholesterol, citric acid, lactic acid, lipoprotein, low density lipoprotein cholesterol, ornithine, phenylalanine, phospholipid, triacylglycerol

Relation: info:eu-repo/semantics/altIdentifier/pmid/35136088; info:eu-repo/semantics/altIdentifier/wos/WOS:000752890000001; volume:8; issue:1; numberofpages:10; journal:NPJ PARKINSON'S DISEASE; https://hdl.handle.net/11573/1721220

الاتاحة: https://hdl.handle.net/11573/1721220
https://doi.org/10.1038/s41531-021-00274-8

المؤلفون: Antelmi, E., Rocchi, L., Latorre, A., Belvisi, D., Magrinelli, F., Bhatia, K. P., Tinazzi, M.

المساهمون: Antelmi, E., Rocchi, L., Latorre, A., Belvisi, D., Magrinelli, F., Bhatia, K. P., Tinazzi, M.

مصطلحات موضوعية: circadian disorder, dopamine, iron, restless legs syndrome, sensorimotor interaction, sensory gating, sleep-related movement disorder

Relation: info:eu-repo/semantics/altIdentifier/pmid/35053861; info:eu-repo/semantics/altIdentifier/wos/WOS:000758786400001; volume:12; issue:1; journal:BRAIN SCIENCES; https://hdl.handle.net/11573/1705636; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123218570

الاتاحة: https://hdl.handle.net/11573/1705636
https://doi.org/10.3390/brainsci12010118

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: Calì, E, Lin, SJ, Rocca, C, Sahin, Y, Al Shamsi, A, El Chehadeh, S, Chaabouni, M, Mankad, K, Galanaki, E, Efthymiou, S, Sudhakar, S, Athanasiou-Fragkouli, A, Çelik, T, Narlı, N, Bianca, S, Murphy, D, De Carvalho Moreira, FM, Hannah, MG, Bugiardini, E, Kriouile, Y, El Khorassani, M, Aguennouz, M, Groppa, S, Karashova, BM, Di Rosa, G, Goraya, JS, Sultan, T, Avdjieva, D, Kathom, H, Tincheva, R, Banu, S, Veggiotti, P, Verrotti, A, Savasta, S, Ruiz, AM, Garavaglia, B, Borgione, E, Papacostas, S, Compagnoni, C, Piccirilli, A, Vikelis, M, Chelban, V, Kaiyrzhanov, R, Cortese, A, Sullivan, R, Papanicolaou, EZ, Dardiotis, E, Maqbool, S, Ibrahim, S, Kirmani, S, Rana, NN, Atawneh, O, Lim, SY, Shaikh, F, Scardamaglia, A, Koutsis, G, Mangano, S, Scuderi, C, Morello, G, Zollo, M, Heimer, G, Striano, P, Al-Khawaja, I, Al-Mutairi, F, Alkuraya, FS, Rizig, M, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Xiromerisiou, G, Spanaki, C, Tucci, A, Fiorillo, C, Rissotto, F, Munell, F, Gagliano, A, Jan, F, Chimenz, R, Gitto, E, Cuppari, C, Romeo, C, Magrinelli, F, Gupta, N, Kabra, M, Benrhouma, H, Tazir, M, Zagaroli, L, Caloisi, C, Fabiano, C, Bottone, G, Farello, G, Di Fabio, S, Obeid, M, Bakhtadze, S, Saadi, NW

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10155099/1/Rizig_A%20homozygous%20MED11%20C-terminal%20variant%20causes%20a%20lethal%20neurodegenerative%20disease_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10155099/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10155099/1/Rizig_A%20homozygous%20MED11%20C-terminal%20variant%20causes%20a%20lethal%20neurodegenerative%20disease_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10155099/

المؤلفون: Meoni, G, Tenori, L, Schade, S, Licari, C, Pirazzini, C, Bacalini, MG, Garagnani, P, Turano, P, Molin, AD, Bartoletti-Stella, A, Gabellini, A, Adarmes-Gómez, AD, Scaglione, CLM, Nardini, C, Rosaria, C, Boninsegna, C, Sala, C, Giuliani, C, Tejera-Parrado, C, Macias, D, Buiza-Rueda, D, Williams, D, Zago, E, Provini, F, Magrinelli, F, Mignani, F, Ravaioli, F, Valzania, F, Sixel-Döring, F, Mengozzi, G, Calandra-Buonaura, G, Dimitri, GM, Fabbri, G, Houlden, H, Huertas, I, Doykov, I, Hällqvist, J, Rodríguez, JFM, Jylhävä, J, Bhatia, KP, Mills, K, Baldelli, L, Xumerle, L, Sambati, L, Milazzo, M, Broli, M, Maturo, MG, Periñán-Tocino, MT, Carriòn-Claro, M, Bonilla-Toribio, M, Delledonne, M, Labrador-Espinosa, MA, Pedersen, NL, Mir, P, De Massis, P, Cortelli, P, Guaraldi, P, Liò, P, Gómez-Garre, P, Clayton, R, Escuela-Martin, R, Ortega, RV, Capellari, S, Hägg, S, Schreglmann, SR, De Luca, S, Spasov, S, Nassetti, SA, Macrì, S, Azevedo, T, Heywood, W, Trenkwalder, C, Franceschi, C, Mollenhauer, B, Luchinat, C

المصدر: npj Parkinson's Disease , 8 , Article 14. (2022)

مصطلحات موضوعية: Diagnostic markers, Parkinson's disease, Predictive markers

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10147029/1/s41531-021-00274-8.pdf; https://discovery.ucl.ac.uk/id/eprint/10147029/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10147029/1/s41531-021-00274-8.pdf
https://discovery.ucl.ac.uk/id/eprint/10147029/

المؤلفون: Zago, E, Dal Molin, A, Dimitri, GM, Xumerle, L, Pirazzini, C, Bacalini, MG, Maturo, MG, Azevedo, T, Spasov, S, Gómez-Garre, P, Periñán, MT, Jesús, S, Baldelli, L, Sambati, L, Calandra-Buonaura, G, Garagnani, P, Provini, F, Cortelli, P, Mir, P, Trenkwalder, C, Mollenhauer, B, Franceschi, C, Liò, P, Nardini, C, Adarmes-Gómez, A, Bartoletti-Stella, A, Bhatia, KP, Marta, BT, Boninsegna, C, Broli, M, Dolores, BR, Capellari, S, Carrión-Claro, M, Cilea, R, Clayton, R, Molin, AD, De Luca, S, De Massis, P, Doykov, I, Escuela-Martin, R, Fabbri, G, Gabellini, A, Giuliani, C, Guaraldi, P, Hägg, S, Hällqvist, J, Halsband, C, Heywood, W, Houlden, H, Huertas, I, Jylhävä, J, Labrador-Espinosa, MA, Licari, C, Luchinat, C, Macias, D, Macrì, S, Magrinelli, F, Rodríguez, JFM, Massimo, D, Mengozzi, G, Meoni, G, Mignani, F, Milazzo, M, Mills, K, Nassetti, SA, Pedersen, NL, Periñán-Tocino, MT, Ravaioli, F, Sala, C, Scaglione, CLM, Schade, S, Schreglmann, S, Strom, S, Tejera-Parrado, C, Tenori, L, Turano, P, Valzania, F, Ortega, RV, Williams, D

المصدر: Scientific Reports , 12 , Article 1330. (2022)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10143118/1/s41598-022-05227-6.pdf; https://discovery.ucl.ac.uk/id/eprint/10143118/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10143118/1/s41598-022-05227-6.pdf
https://discovery.ucl.ac.uk/id/eprint/10143118/

المؤلفون: Antelmi, E, Rocchi, L, Latorre, A, Belvisi, D, Magrinelli, F, Bhatia, KP, Tinazzi, M

المصدر: Brain Sciences , 12 (1) , Article 118. (2022)

مصطلحات موضوعية: restless legs syndrome, sleep-related movement disorder, sensorimotor interaction, circadian disorders, dopamine, iron, sensory gating

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10142401/1/brainsci-12-00118.pdf; https://discovery.ucl.ac.uk/id/eprint/10142401/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10142401/1/brainsci-12-00118.pdf
https://discovery.ucl.ac.uk/id/eprint/10142401/

المؤلفون: Magrinelli, F, Cali, E, Braga, VL, Yis, U, Tomoum, H, Shamseldin, H, Raiman, J, Kernstock, C, Rezende Filho, FM, Povoas Barsottini, OG, Taylor, RW, Ostergaard, E, Tamim, A, Schaeferhoff, K, Ferraz Sallum, JM, Zaki, MS, Kok, F, Bhatia, KP, Wissinger, B, Sergeant, K, Haack, TB, Horvath, R, Hiz, S, Alkuraya, FS, Houlden, H, Pedroso, JL, Maroofian, R

المصدر: Movement Disorders Clinical Practice (2022) (In press).

مصطلحات موضوعية: NDUFA12, dystonia, optic atrophy, Leigh syndrome, phenotypic heterogeneity

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10141102/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Magrinelli%20-%20Biallelic%20Loss%E2%80%90of%E2%80%90Function%20NDUFA12%20Variants%20Cause%20a%20Wide%20Phenotypic.pdf; https://discovery.ucl.ac.uk/id/eprint/10141102/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10141102/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Magrinelli%20-%20Biallelic%20Loss%E2%80%90of%E2%80%90Function%20NDUFA12%20Variants%20Cause%20a%20Wide%20Phenotypic.pdf
https://discovery.ucl.ac.uk/id/eprint/10141102/

المؤلفون: Magrinelli, F, Moualek, D, Tazir, M, Ali Pacha, L, Verghese, A, Bhatia, KP, Maroofian, R, Houlden, H

المصدر: Movement Disorders Clinical Practice , 9 (2) pp. 268-271. (2022)

مصطلحات موضوعية: deep brain stimulation, dystonia, EIF2AK2, genetics, movement disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10138415/1/mdc3.13371.pdf; https://discovery.ucl.ac.uk/id/eprint/10138415/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10138415/1/mdc3.13371.pdf
https://discovery.ucl.ac.uk/id/eprint/10138415/

المؤلفون: Christensen, MB, Levy, AM, Mohammadi, NA, Niceta, M, Kaiyrzhanov, R, Dentici, ML, Al Alam, C, Alesi, V, Benoit, V, Bhatia, KP, Bierhals, T, Boßelmann, CM, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, TB, Hammer, TB, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, MY, Moudi, M, Müller, AJ, Oostra, AJ, Pletcher, BA, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, MS, Zech, M, Lerche, H, Radio, FC, Gomez-Puertas, P, Møller, RS, Tümer, Z

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/vnd.ms-excel

Relation: https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdf; https://openaccess.sgul.ac.uk/id/eprint/114577/7/cge14165-sup-0001-tables1.docx; https://openaccess.sgul.ac.uk/id/eprint/114577/9/cge14165-sup-0002-tables2.xlsx; https://openaccess.sgul.ac.uk/id/eprint/114577/10/cge14165-sup-0003-tables3.xlsx; Christensen, MB; Levy, AM; Mohammadi, NA; Niceta, M; Kaiyrzhanov, R; Dentici, ML; Al Alam, C; Alesi, V; Benoit, V; Bhatia, KP; et al. Christensen, MB; Levy, AM; Mohammadi, NA; Niceta, M; Kaiyrzhanov, R; Dentici, ML; Al Alam, C; Alesi, V; Benoit, V; Bhatia, KP; Bierhals, T; Boßelmann, CM; Buratti, J; Callewaert, B; Ceulemans, B; Charles, P; De Wachter, M; Dehghani, M; D'haenens, E; Doco-Fenzy, M; Geßner, M; Gobert, C; Guliyeva, U; Haack, TB; Hammer, TB; Heinrich, T; Hempel, M; Herget, T; Hoffmann, U; Horvath, J; Houlden, H; Keren, B; Kresge, C; Kumps, C; Lederer, D; Lermine, A; Magrinelli, F; Maroofian, R; Vahidi Mehrjardi, MY; Moudi, M; Müller, AJ; Oostra, AJ; Pletcher, BA; Ros-Pardo, D; Samarasekera, S; Tartaglia, M; Van Schil, K; Vogt, J; Wassmer, E; Winkelmann, J; Zaki, MS; Zech, M; Lerche, H; Radio, FC; Gomez-Puertas, P; Møller, RS; Tümer, Z (2022) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clin Genet, 102 (2). pp. 98-109. ISSN 1399-0004 https://doi.org/10.1111/cge.14165 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114577/
https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdf
https://openaccess.sgul.ac.uk/id/eprint/114577/7/cge14165-sup-0001-tables1.docx
https://openaccess.sgul.ac.uk/id/eprint/114577/9/cge14165-sup-0002-tables2.xlsx
https://openaccess.sgul.ac.uk/id/eprint/114577/10/cge14165-sup-0003-tables3.xlsx
https://doi.org/10.1111/cge.14165

المؤلفون: Magrinelli, F, Mehta, S, Di Lazzaro, G, Latorre, A, Edwards, MJ, Balint, B, Basu, P, Kobylecki, C, Groppa, S, Hegde, A, Mulroy, E, Estevez-Fraga, C, Arora, A, Kumar, H, Schneider, SA, Lewis, PA, Jaunmuktane, Z, Revesz, T, Gandhi, S, Wood, NW, Hardy, JA, Tinazzi, M, Lal, V, Houlden, H, Bhatia, KP

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/tiff; application/vnd.ms-excel

Relation: https://openaccess.sgul.ac.uk/id/eprint/113782/1/mds.28807.pdf; https://openaccess.sgul.ac.uk/id/eprint/113782/6/mds28807-sup-0001-supinfo.docx; https://openaccess.sgul.ac.uk/id/eprint/113782/7/mds28807-sup-0002-supinfo.tif; https://openaccess.sgul.ac.uk/id/eprint/113782/13/mds28807-sup-0003-supinfo.xlsx; https://openaccess.sgul.ac.uk/id/eprint/113782/14/mds28807-sup-0004-supinfo.tif; https://openaccess.sgul.ac.uk/id/eprint/113782/23/mds28807-sup-0005-supinfo.tif; Magrinelli, F; Mehta, S; Di Lazzaro, G; Latorre, A; Edwards, MJ; Balint, B; Basu, P; Kobylecki, C; Groppa, S; Hegde, A; et al. Magrinelli, F; Mehta, S; Di Lazzaro, G; Latorre, A; Edwards, MJ; Balint, B; Basu, P; Kobylecki, C; Groppa, S; Hegde, A; Mulroy, E; Estevez-Fraga, C; Arora, A; Kumar, H; Schneider, SA; Lewis, PA; Jaunmuktane, Z; Revesz, T; Gandhi, S; Wood, NW; Hardy, JA; Tinazzi, M; Lal, V; Houlden, H; Bhatia, KP (2022) Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism. Mov Disord, 37 (1). pp. 148-161. ISSN 1531-8257 https://doi.org/10.1002/mds.28807 SGUL Authors: Edwards, Mark John James

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113782/
https://openaccess.sgul.ac.uk/id/eprint/113782/1/mds.28807.pdf
https://openaccess.sgul.ac.uk/id/eprint/113782/6/mds28807-sup-0001-supinfo.docx
https://openaccess.sgul.ac.uk/id/eprint/113782/7/mds28807-sup-0002-supinfo.tif
https://openaccess.sgul.ac.uk/id/eprint/113782/13/mds28807-sup-0003-supinfo.xlsx
https://openaccess.sgul.ac.uk/id/eprint/113782/14/mds28807-sup-0004-supinfo.tif
https://openaccess.sgul.ac.uk/id/eprint/113782/23/mds28807-sup-0005-supinfo.tif
https://doi.org/10.1002/mds.28807

المؤلفون: Pirazzini C., Azevedo T., Baldelli L., Bartoletti-Stella A., Calandra-Buonaura G., Dal Molin A., Dimitri G. M., Doykov I., Gomez-Garre P., Hagg S., Hallqvist J., Halsband C., Heywood W., Jesus S., Jylhava J., Kwiatkowska K. M., Labrador-Espinosa M. A., Licari C., Maturo M. G., Mengozzi G., Meoni G., Milazzo M., Perinan-Tocino M. T., Ravaioli F., Sala C., Sambati L., Schade S., Schreglmann S., Spasov S., Tenori L., Williams D., Xumerle L., Zago E., Bhatia K. P., Capellari S., Cortelli P., Garagnani P., Houlden H., Lio P., Luchinat C., Delledonne M., Mills K., Mir P., Mollenhauer B., Nardini C., Pedersen N. L., Provini F., Strom S., Trenkwalder C., Turano P., Bacalini M. G., Franceschi C., Adarmes-Gomez A., Bonilla-Toribio M., Boninsegna C., Broli M., Buiza-Rueda D., Carrion-Claro M., Cilea R., Clayton R., Molin A. D., De Luca S., De Massis P., Escuela-Martin R., Fabbri G., Gabellini A., Giuliani C., Guaraldi P., Huertas I., Macias D., Macri S., Magrinelli F., Rodriguez J. F. M., Mignani F., Nassetti S. A., Scaglione C. L. M., Tejera-Parrado C., Valzania F., Ortega R. V.

المساهمون: Pirazzini, C., Azevedo, T., Baldelli, L., Bartoletti-Stella, A., Calandra-Buonaura, G., Dal Molin, A., Dimitri, G. M., Doykov, I., Gomez-Garre, P., Hagg, S., Hallqvist, J., Halsband, C., Heywood, W., Jesus, S., Jylhava, J., Kwiatkowska, K. M., Labrador-Espinosa, M. A., Licari, C., Maturo, M. G., Mengozzi, G., Meoni, G., Milazzo, M., Perinan-Tocino, M. T., Ravaioli, F., Sala, C., Sambati, L., Schade, S., Schreglmann, S., Spasov, S., Tenori, L., Williams, D., Xumerle, L., Zago, E., Bhatia, K. P., Capellari, S., Cortelli, P., Garagnani, P., Houlden, H., Lio, P., Luchinat, C., Delledonne, M., Mills, K., Mir, P., Mollenhauer, B., Nardini, C., Pedersen, N. L., Provini, F., Strom, S., Trenkwalder, C., Turano, P., Bacalini, M. G., Franceschi, C., Adarmes-Gomez, A., Bonilla-Toribio, M., Boninsegna, C., Broli, M., Buiza-Rueda, D., Carrion-Claro, M., Cilea, R., Clayton, R., Molin, A. D., De Luca, S., De Massis, P., Escuela-Martin, R., Fabbri, G., Gabellini, A., Giuliani, C., Guaraldi, P., Huertas, I., Macias, D., Macri, S., Magrinelli, F., Rodriguez, J. F. M., Mignani, F., Nassetti, S. A., Scaglione, C. L. M., Tejera-Parrado, C., Valzania, F., Ortega, R. V.

مصطلحات موضوعية: Inflammaging, Neurodegeneration, Omic, Parkinson's disease

Relation: info:eu-repo/semantics/altIdentifier/pmid/33385396; info:eu-repo/semantics/altIdentifier/wos/WOS:000626268000009; volume:194; numberofpages:10; journal:MECHANISMS OF AGEING AND DEVELOPMENT; https://hdl.handle.net/11573/1728554

الاتاحة: https://hdl.handle.net/11573/1728554
https://doi.org/10.1016/j.mad.2020.111426

المؤلفون: Baldelli L., Schade S., Jesus S., Schreglmann S. R., Sambati L., Gomez-Garre P., Halsband C., Calandra-Buonaura G., Adarmes-Gomez A. D., Sixel-Doring F., Zenesini C., Pirazzini C., Garagnani P., Bacalini M. G., Bhatia K. P., Cortelli P., Mollenhauer B., Franceschi C., Houlden H., Lio P., Luchinat C., Delledonne M., Mills K., Pedersen N. L., Azevedo T., Bartoletti-Stella A., Bonilla-Toribio M., Buiza-Rueda D., Capellari S., Carrion-Claro M., Clayton R., Dal Molin A., Dimitri G. M., Doykov I., Giuliani C., Hagg S., Hallqvist J., Heywood W., Huertas I., Jylhava J., Labrador-Espinosa M. A., Licari C., Macias D., Magrinelli F., Rodriguez J. F. M., Maturo M. G., Mengozzi G., Meoni G., Milazzo M., Nardini C., Perinan-Tocino M. T., Ravaioli F., Sala C., Spasov S., Tejera-Parrado C., Tenori L., Paola T., Williams D., Xumerle L., Zago E., Broli M., De Massis P., Escuela-Martin R., Fabbri G., Gabellini A., Guaraldi P., Macri S., Nassetti S. A., Scaglione C. L. M., Valzania F., Rosaria C., Mignani F., Ortega R. V., Boninsegna C., De Luca S., Mir P., Trenkwalder C., Provini F.

المساهمون: Baldelli, L., Schade, S., Jesus, S., Schreglmann, S. R., Sambati, L., Gomez-Garre, P., Halsband, C., Calandra-Buonaura, G., Adarmes-Gomez, A. D., Sixel-Doring, F., Zenesini, C., Pirazzini, C., Garagnani, P., Bacalini, M. G., Bhatia, K. P., Cortelli, P., Mollenhauer, B., Franceschi, C., Houlden, H., Lio, P., Luchinat, C., Delledonne, M., Mills, K., Pedersen, N. L., Azevedo, T., Bartoletti-Stella, A., Bonilla-Toribio, M., Buiza-Rueda, D., Capellari, S., Carrion-Claro, M., Clayton, R., Dal Molin, A., Dimitri, G. M., Doykov, I., Giuliani, C., Hagg, S., Hallqvist, J., Heywood, W., Huertas, I., Jylhava, J., Labrador-Espinosa, M. A., Licari, C., Macias, D., Magrinelli, F., Rodriguez, J. F. M., Maturo, M. G., Mengozzi, G., Meoni, G., Milazzo, M., Nardini, C., Perinan-Tocino, M. T., Ravaioli, F., Sala, C., Spasov, S., Tejera-Parrado, C., Tenori, L., Paola, T., Williams, D., Xumerle, L., Zago, E., Broli, M., De Massis, P., Escuela-Martin, R., Fabbri, G., Gabellini, A., Guaraldi, P., Macri, S., Nassetti, S. A., Scaglione, C. L. M., Valzania, F., Rosaria, C., Mignani, F., Ortega, R. V., Boninsegna, C., De Luca, S., Mir, P., Trenkwalder, C., Provini, F.

مصطلحات موضوعية: Parkinson's Disease, Parasomnia, Rapid Eye Movement Sleep Behavior Disorder

Relation: info:eu-repo/semantics/altIdentifier/pmid/34493736; info:eu-repo/semantics/altIdentifier/wos/WOS:000694221700001; volume:7; issue:1; numberofpages:10; journal:NPJ PARKINSON'S DISEASE; https://hdl.handle.net/11573/1724047

الاتاحة: https://hdl.handle.net/11573/1724047
https://doi.org/10.1038/s41531-021-00219-1

المؤلفون: Mulroy E., Baschieri F., Magrinelli F., Latorre A., Cortelli P., Bhatia K. P.

المساهمون: Mulroy E., Baschieri F., Magrinelli F., Latorre A., Cortelli P., Bhatia K.P.

مصطلحات موضوعية: liver disease, movement disorders

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34401403; info:eu-repo/semantics/altIdentifier/wos/WOS:000656173300001; volume:8; issue:6; firstpage:828; lastpage:842; numberofpages:15; journal:MOVEMENT DISORDERS CLINICAL PRACTICE; http://hdl.handle.net/11585/858893; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107147041; https://doi.org/10.1002/mdc3.13238

الاتاحة: http://hdl.handle.net/11585/858893
https://doi.org/10.1002/mdc3.13238