المؤلفون: Naaldijk, Y., Fernández, B., Fasiczka, R., Fdez, E., Leghay, C., Croitoru, I., Kwok, J. B., Boulesnane, Y., Vizeneux, A., Mutez, Eugenie, Calvez, C., Destée, A., Taymans, Jean-Marc, Aragon, A. V., Yarza, A. B., Padmanabhan, S., Delgado, M., Alcalay, R. N., Chatterton, Z., Dzamko, N., Halliday, G., Ruiz-Martínez, J., Chartier-Harlin, Marie-Christine, Hilfiker, S.

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

Relation: NPJ Parkinsons Dis; http://hdl.handle.net/20.500.12210/103211

الاتاحة: https://hdl.handle.net/20.500.12210/103211

المؤلفون: Qi R., Sammler E., Gonzalez-Hunt C. P., Barraza I., Pena N., Rouanet J. P., Naaldijk Y., Goodson S., Fuzzati M., Blandini F., Erickson K. I., Weinstein A. M., Lutz M. W., Kwok J. B., Halliday G. M., Dzamko N., Padmanabhan S., Alcalay R. N., Waters C., Hogarth P., Simuni T., Smith D., Marras C., Tonelli F., Alessi D. R., West A. B., Shiva S., Hilfiker S., Sanders L. H.

المساهمون: Qi, R., Sammler, E., Gonzalez-Hunt, C. P., Barraza, I., Pena, N., Rouanet, J. P., Naaldijk, Y., Goodson, S., Fuzzati, M., Blandini, F., Erickson, K. I., Weinstein, A. M., Lutz, M. W., Kwok, J. B., Halliday, G. M., Dzamko, N., Padmanabhan, S., Alcalay, R. N., Waters, C., Hogarth, P., Simuni, T., Smith, D., Marras, C., Tonelli, F., Alessi, D. R., West, A. B., Shiva, S., Hilfiker, S., Sanders, L. H.

Relation: info:eu-repo/semantics/altIdentifier/pmid/37647388; info:eu-repo/semantics/altIdentifier/wos/WOS:001062122400001; volume:15; issue:711; journal:SCIENCE TRANSLATIONAL MEDICINE; https://hdl.handle.net/11571/1513895

الاتاحة: https://hdl.handle.net/11571/1513895
https://doi.org/10.1126/SCITRANSLMED.ABO1557

المؤلفون: Outeiro T. F., Alcalay R. N., Antonini A., Attems J., Bonifati V., Cardoso F., Chesselet M. -F., Hardy J., Madeo G., McKeith I., Mollenhauer B., Moore D. J., Rascol O., Schlossmacher M. G., Soreq H., Stefanis L., Ferreira J. J.

المساهمون: Outeiro, T. F., Alcalay, R. N., Antonini, A., Attems, J., Bonifati, V., Cardoso, F., Chesselet, M. -F., Hardy, J., Madeo, G., Mckeith, I., Mollenhauer, B., Moore, D. J., Rascol, O., Schlossmacher, M. G., Soreq, H., Stefanis, L., Ferreira, J. J.

مصطلحات موضوعية: biological definition, biomarker, diagnostic criteria, Lewy body, neurodegeneration, neuropathology, Parkinson's disease

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000992688300001; volume:38; issue:7; firstpage:1127; lastpage:1142; numberofpages:16; journal:MOVEMENT DISORDERS; https://hdl.handle.net/11577/3522440; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85158107714

الاتاحة: https://hdl.handle.net/11577/3522440
https://doi.org/10.1002/mds.29419

المؤلفون: Vollstedt E. -J., Schaake S., Lohmann K., Padmanabhan S., Brice A., Lesage S., Tesson C., Vidailhet M., Wurster I., Hentati F., Mirelman A., Giladi N., Marder K., Waters C., Fahn S., Kasten M., Bruggemann N., Borsche M., Foroud T., Tolosa E., Garrido A., Annesi G., Gagliardi M., Bozi M., Stefanis L., Ferreira J. J., Correia Guedes L., Avenali M., Petrucci S., Clark L., Fedotova E. Y., Abramycheva N. Y., Alvarez V., Menendez-Gonzalez M., Jesus Maestre S., Gomez-Garre P., Mir P., Belin A. C., Ran C., Lin C. -H., Kuo M. -C., Crosiers D., Wszolek Z. K., Ross O. A., Jankovic J., Nishioka K., Funayama M., Clarimon J., Williams-Gray C. H., Camacho M., Cornejo-Olivas M., Torres-Ramirez L., Wu Y. -R., Lee-Chen G. -J., Morgadinho A., Pulkes T., Termsarasab P., Berg D., Kuhlenbaumer G., Kuhn A. A., Borngraber F., de Michele G., De Rosa A., Zimprich A., Puschmann A., Mellick G. D., Dorszewska J., Carr J., Ferese R., Gambardella S., Chase B., Markopoulou K., Satake W., Toda T., Rossi M., Merello M., Lynch T., Olszewska D. A., Lim S. -Y., Ahmad-Annuar A., Tan A. H., Al-Mubarak B., Hanagasi H., Koziorowski D., Ertan S., Genc G., de Carvalho Aguiar P., Barkhuizen M., Pimentel M. M. G., Saunders-Pullman R., van de Warrenburg B., Bressman S., Toft M., Appel-Cresswell S., Lang A. E., Skorvanek M., Boon A. J. W., Kruger R., Sammler E. M., Tumas V., Zhang B. -R., Garraux G., Chung S. J., Kim Y. J., Winkelmann J., Sue C. M., Tan E. -K., Damasio J., Klivenyi P., Kostic V. S., Arkadir D., Martikainen M., Borges V., Hertz J. M., Brighina L., Spitz M., Suchowersky O., Riess O., Das P., Mollenhauer B., Gatto E. M., Petersen M. S., Hattori N., Wu R. -M., Illarioshkin S. N., Valente E. M., Aasly J. O., Aasly A., Alcalay R. N., Thaler A., Farrer M. J., Brockmann K., Corvol J. -C., Klein C., Albanese A., Aldakheel A., Alkhairallah T., Al-tassan N., Amami P., Leite M. A. A., Ferraz H. B., Bardien S., Barrett M. J., Basak A. N., Bilgic B., Bloem B. R., Bonifati V., Cesarini M. E., Guedes L. C., Dieguez E., Fung V. S. C., Januario C., Maestre S. J., Kaasinen V., Kataoka H., Kievit A. A., Lim J. L., May P., McCarthy A., Briceno H. M., Morris H., Mosejova A., Cakmak O. O., Orr-Urtreger A., Pachchek S., Perinan M. T., Procopio R., Ruiz-Martinez J., Pereira J. S., Soto-Beasley A. I., Sousa M., Tepgec F., Uyguner O., Walton R. L.

المساهمون: Vollstedt, E. -J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Bruggemann, N., Borsche, M., Foroud, T., Tolosa, E., Garrido, A., Annesi, G., Gagliardi, M., Bozi, M., Stefanis, L., Ferreira, J. J., Correia Guedes, L., Avenali, M., Petrucci, S., Clark, L., Fedotova, E. Y., Abramycheva, N. Y., Alvarez, V., Menendez-Gonzalez, M., Jesus Maestre, S., Gomez-Garre, P., Mir, P., Belin, A. C., Ran, C., Lin, C. -H., Kuo, M. -C., Crosiers, D., Wszolek, Z. K., Ross, O. A., Jankovic, J., Nishioka, K., Funayama, M., Clarimon, J., Williams-Gray, C. H., Camacho, M., Cornejo-Olivas, M., Torres-Ramirez, L., Wu, Y. -R., Lee-Chen, G. -J., Morgadinho, A., Pulkes, T., Termsarasab, P., Berg, D., Kuhlenbaumer, G., Kuhn, A. A., Borngraber, F., de Michele, G., De Rosa, A., Zimprich, A., Puschmann, A., Mellick, G. D., Dorszewska, J., Carr, J., Ferese, R., Gambardella, S., Chase, B., Markopoulou, K., Satake, W., Toda, T., Rossi, M., Merello, M., Lynch, T., Olszewska, D. A., Lim, S. -Y., Ahmad-Annuar, A., Tan, A. H., Al-Mubarak, B., Hanagasi, H., Koziorowski, D., Ertan, S., Genc, G., de Carvalho Aguiar, P., Barkhuizen, M., Pimentel, M. M. G., Saunders-Pullman, R., van de Warrenburg, B., Bressman, S., Toft, M., Appel-Cresswell, S., Lang, A. E., Skorvanek, M., Boon, A. J. W., Kruger, R., Sammler, E. M., Tumas, V.

مصطلحات موضوعية: monogenic PD, Parkinson's disease

Relation: info:eu-repo/semantics/altIdentifier/pmid/36692014; volume:38; issue:2; firstpage:286; lastpage:303; numberofpages:18; journal:MOVEMENT DISORDERS; https://hdl.handle.net/11571/1497640; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85147202939

الاتاحة: https://hdl.handle.net/11571/1497640
https://doi.org/10.1002/mds.29288

المؤلفون: Cook L., Schulze J., Verbrugge J., Beck J. C., Marder K. S., Saunders-Pullman R., Klein C., Naito A., Alcalay R. N., Brice A., Kumeh A., West A. B., Singleton A., Schule B., Fiske B., Gabbert C., Marras C., Blauwendraat C., Thaxton C., Alessi D., Craig D., Fon E. A., Forbes E., Valente E. M., Sammler E., Chao G., Riboldi G., Elloumi H. Z., Mata I., Fong J. C., Corvol J. -C., Shulman J., Peterschmitt J., Marder K., Lohmann K., Nudelman K., Lange L., Cookson M. R., Nance M., Farrer M., Grigorian M., Schwarzschild M. A., Mencacci N., Ross O., Mistry P., Hodges P., Blake R., Sardi S. P., Farhan S., Strom S., Padmanabhan S., Mohan S., Longerich S., Schneider S., Lesage S., Bardakjian T., Foroud T., Courtin T., Tropea T., Liu Y., Gan-Or Z., Shalash A. S., Hall A., Thaler A., Sue C. M., Mascalzoni D., Raymond D., Gatto E. M., Pal G. D., Konig I., Novakovic I., Merello M., Salari M., Mencacci N. E., Hattori N., Suchowersky O., Bardien S., Chung S. J., Simuni T., Lynch T., Bonifati V.

المساهمون: Cook, L., Schulze, J., Verbrugge, J., Beck, J. C., Marder, K. S., Saunders-Pullman, R., Klein, C., Naito, A., Alcalay, R. N., Brice, A., Kumeh, A., West, A. B., Singleton, A., Schule, B., Fiske, B., Gabbert, C., Marras, C., Blauwendraat, C., Thaxton, C., Alessi, D., Craig, D., Fon, E. A., Forbes, E., Valente, E. M., Sammler, E., Chao, G., Riboldi, G., Elloumi, H. Z., Mata, I., Fong, J. C., Corvol, J. -C., Shulman, J., Peterschmitt, J., Marder, K., Lohmann, K., Nudelman, K., Lange, L., Cookson, M. R., Nance, M., Farrer, M., Grigorian, M., Schwarzschild, M. A., Mencacci, N., Ross, O., Mistry, P., Hodges, P., Blake, R., Sardi, S. P., Farhan, S., Strom, S., Padmanabhan, S., Mohan, S., Longerich, S., Schneider, S., Lesage, S., Bardakjian, T., Foroud, T., Courtin, T., Tropea, T., Liu, Y., Gan-Or, Z., Shalash, A. S., Hall, A., Thaler, A., Sue, C. M., Mascalzoni, D., Raymond, D., Gatto, E. M., Pal, G. D., Konig, I., Novakovic, I., Merello, M., Salari, M., Mencacci, N. E., Hattori, N., Suchowersky, O., Bardien, S., Chung, S. J., Simuni, T., Lynch, T., Bonifati, V.

مصطلحات موضوعية: Clinical laboratorie, Genetic testing, Multi-gene panel, Parkinson's disease

وصف الملف: STAMPA

Relation: volume:92; firstpage:107; lastpage:111; numberofpages:5; journal:PARKINSONISM & RELATED DISORDERS; https://hdl.handle.net/11571/1465409; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122488125

الاتاحة: https://hdl.handle.net/11571/1465409
https://doi.org/10.1016/j.parkreldis.2021.10.001

المؤلفون: Storm, Catherine S., Kia, Demis A., Almramhi, Mona M., Bandres-Ciga, Sara, Finan, Chris, Noyce, A. J., Kaiyrzhanov, R., Middlehurst, B., Tan, M., Houlden, H., Morris, H. R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Quinn, J., Bubb, V., Mok, K. Y., Kinghorn, K. J., Lewis, P., Schreglmann, S. R., Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K. E., Clarke, C., Harvey, K., Jacobs, B. M., Brice, Alexis, Danjou, F., Lesage, S., Corvol, J. C., Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Schneider, S. A., Cookson, M. R., Blauwendraat, C., Craig, D. W., Billingsley, K., Makarious, M. B., Narendra, D. P., Faghri, F., Gibbs, J. R., Hernandez, D. G., Van Keuren-Jensen, K., Shulman, J. M., Iwaki, H., Leonard, H. L., Nalls, M. A., Robak, L., Bras, J., Guerreiro, R., Lubbe, S., Troycoco, T., Finkbeiner, S., Mencacci, N. E., Lungu, C., Singleton, A. B., Scholz, S. W., Reed, X., Uitti, R. J., Ross, O. A., Grenn, F. P., Moore, A., Alcalay, R. N., Wszolek, Z. K., Gan-Or, Z., Rouleau, G. A., Krohn, L., Mufti, K., van Hilten, J. J., Marinus, J., Adarmes-Gómez, A. D., Aguilar Barberà, Miquel, Álvarez Angulo, Iñaki, Alvarez, V., Barrero, F. J., Yarza, J. A. B., Bernal-Bernal, I., Blázquez Estrada, M, Bonilla-Toribio, M., Botía, J. A., Boungiorno, M. T., Buiza-Rueda, Dolores, Cámara, A., Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, Jordi, Compta, Y., Diez-Fairen, M., Dols-Icardo, Oriol, Duarte, J., Duran, R., Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernández, M., Fernández-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Heredia, M. J. G., Gonzalez-Aramburu, I., Pagola, A. G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, Jaime, Labrador-Espinosa, M. A., Lopez-Sendon, J. L., de Munain Arregui, A. L., Macias, D., Torres, I. M., Marín, J., Marti, M. J., Martínez-Castrillo, J. C., Méndez-del-Barrio, C., González, M. M., Mata, M., Mínguez, A., Mir, P., Rezola, E. M., Muñoz, E., Pagonabarraga, J., Pastor, P., Errazquin, F. P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A. S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, Lydia, Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Taba, P., Koks, S., Hassin-Baer, S., Majamaa, K., Siitonen, A., Tienari, P., Okubadejo, N. U., Ojo, O. O., Shashkin, C., Zharkinbekova, N., Akhmetzhanov, V., Kaishybayeva, G., Karimova, A., Khaibullin, T., Lynch, T. L., Hingorani, Aroon, Wood, Nicholas W.., Universitat Autònoma de Barcelona

المساهمون: Rosetrees Trust, John Black Charitable Foundation, University College London, King Abdulaziz University, National Institute for Health Research (UK), Universidad de Cantabria, HUS Neurocenter, Department of Neurosciences, Clinicum

المصدر: Nature Communications
Nature communications, vol 12, iss 1
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications 12, 7342 (2021)
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Nature communications

مصطلحات موضوعية: Aging, Science, Quantitative Trait Loci, General Physics and Astronomy, Neurodegenerative, 3124 Neurology and psychiatry, General Biochemistry, Genetics and Molecular Biology, Article, Cohort Studies, Risk Factors, Genetics research, Genetics, 2.1 Biological and endogenous factors, Humans, Genetic Predisposition to Disease, Aetiology, Multidisciplinary, Genome, Parkinson's Disease, Genome, Human, Prevention, 3112 Neurosciences, Neurosciences, Brain, Genetic Variation, Parkinson Disease, General Chemistry, Mendelian Randomization Analysis, International Parkinson’s Disease Genomics Consortium, Brain Disorders, Good Health and Well Being, Gene Expression Regulation, Neurology, 5.1 Pharmaceuticals, Case-Control Studies, Neurological, Disease Progression, Development of treatments and therapeutic interventions, Human, Biotechnology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1850036eb6e66fae1a9603349cc8e995
http://hdl.handle.net/10261/269504

المؤلفون: Krohn L., Ozturk T. N., Vanderperre B., Ouled Amar Bencheikh B., Ruskey J. A., Laurent S. B., Spiegelman D., Postuma R. B., Arnulf I., Hu M. T. M., Dauvilliers Y., Hogl B., Stefani A., Monaca C. C., Plazzi G., Antelmi E., Ferini-Strambi L., Heidbreder A., Rudakou U., Cochen De Cock V., Young P., Wolf P., Oliva P., Zhang X. K., Greenbaum L., Liong C., Gagnon J. -F., Desautels A., Hassin-Baer S., Montplaisir J. Y., Dupre N., Rouleau G. A., Fon E. A., Trempe J. -F., Lamoureux G., Alcalay R. N., Gan-Or Z.

المساهمون: Krohn, L., Ozturk, T. N., Vanderperre, B., Ouled Amar Bencheikh, B., Ruskey, J. A., Laurent, S. B., Spiegelman, D., Postuma, R. B., Arnulf, I., M. T. M., Hu, Dauvilliers, Y., Hogl, B., Stefani, A., Monaca, C. C., Plazzi, G., Antelmi, E., Ferini-Strambi, L., Heidbreder, A., Rudakou, U., Cochen De Cock, V., Young, P., Wolf, P., Oliva, P., Zhang, X. K., Greenbaum, L., Liong, C., Gagnon, J. -F., Desautels, A., Hassin-Baer, S., Montplaisir, J. Y., Dupre, N., Rouleau, G. A., Fon, E. A., Trempe, J. -F., Lamoureux, G., Alcalay, R. N., Gan-Or, Z.

مصطلحات موضوعية: Adult, Aged, Case-Control Studies, Female, Genetic Predisposition to Disease, Genotype, Glucosylceramidase, Humans, Lysosomes, Male, Middle Aged, Models, Molecular, Molecular Dynamics Simulation, Parkinson Disease, Polymorphism, Single Nucleotide, Potassium Channels, REM Sleep Behavior Disorder, Synucleinopathies

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000496890900001; volume:87; issue:1; firstpage:139; lastpage:153; numberofpages:15; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/20.500.11768/111009

الاتاحة: https://hdl.handle.net/20.500.11768/111009
https://doi.org/10.1002/ana.25629

المؤلفون: Kia, D A, Zhang, D, Guelfi, S, Manzoni, C, Hubbard, L, Reynolds, R H, Botía, J, Ryten, M, Ferrari, R, Lewis, P A, Williams, N, Trabzuni, D, Hardy, J, Wood, N W, Noyce, A J, Kaiyrzhanov, R, Middlehurst, B, Tan, M, Houlden, H, Morris, H R, Plun-Favreau, H, Holmans, P, Bras, J, PhD, J Q, Mok, K Y, Kinghorn, K J, Billingsley, K, Lewis, P, Schreglmann, S, Guerreiro, R, Lovering, R, R'Bibo, L, Rizig, M, Escott-Price, V, Chelban, V, Foltynie, T, Brice, A, Danjou, F, Lesage, S, Corvol, J-C, Martinez, M, Schulte, C, Brockmann, K, Simón-Sánchez, J, Heutink, P, Rizzu, P, Sharma, M, Gasser, T, Nicolas, A, Cookson, M R, Bandres-Ciga, S, Blauwendraat, C, Craig, D W, Faghri, F, Gibbs, J R, Hernandez, D G, Van Keuren-Jensen, K, Shulman, J M, Leonard, H L, Nalls, M A, Robak, L, Lubbe, S, Finkbeiner, S, Mencacci, N E, Lungu, C, Singleton, A B, Scholz, S W, Reed, X, Alcalay, R N, Gan-Or, Z, Rouleau, G A, Krohn, L, van Hilten, J J, Marinus, J, Adarmes-Gómez, A D, Aguilar, M, Alvarez, I, Alvarez, V, Javier Barrero, F, Bergareche Yarza, J A, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio, M, Botía, J A, Boungiorno, M T, Buiza-Rueda, D, Càmara, A, Carrillo, F, Carrión-Claro, M, Cerdan, D, Clarimón, J, Compta, Y, Diez-Fairen, M, Dols-Icardo, O, Duarte, J, Duran, R, Escamilla-Sevilla, F, Ezquerra, M, Feliz, C, Fernàndez, M, Fernàndez-Santiago, R, Garcia, C, García-Ruiz, P, Gómez-Garre, P, Gomez Heredia, M J, Gonzalez-Aramburu, I, Pagola, A G, Hoenicka, J, Infante, J, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, M A, Lopez-Sendon, J L, Arregui, ALDM, Macias, D, Torres, I M, Marín, J, Marti, M J, Martínez-Castrillo, J C, Mèndez-del-Barrio, C, González, M M, Adolfo Mínguez, M M, Mir, P, Rezola, E M, Muñoz, E, Pagonabarraga, J, Pastor, P, Errazquin, F P, Perinán-Tocino, T, Ruiz-Martínez, J, Ruz, C, Rodriguez, A S, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Tartari, J P, Tejera-Parrado, C, Tolosa, E, Valldeoriola, F, Vargas-González, L, Vela, L, Vives, F, Zimprich, A, Pihlstrom, L, Toft, M, Koks, S, Taba, P, Hassin-Baer, S, Weale, M, Ramasamy, A, Smith, C, Guelfi, M S, D'sa, K, Forabosco, P, Botiá, J A

Relation: ispartof: JAMA neurology spage 464 epage 472 issue 4 vol 78; 991005634024907891; alma:61MUN_INST/bibs/991005634024907891

الاتاحة: https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Identification-of-Candidate-Parkinson-Disease-Genes/991005634024907891

المؤلفون: Vollstedt, E. -J., Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad-Annuar, A., Albanese, A., Alcalay, R. N., Al-Mubarak, B., Alvarez, V., Andree-Muñoz, B., Annesi, G., Appel-Cresswell, S., Arkadir, D., Armasu, S., Barber, T. R., Bardien, S., Barkhuizen, M., Barrett, M. J., Başak, A. N., Beach, T., Benitez, B. A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brücke, T., Brüggemann, N., Camacho, M., Cardoso, F., Belin, A. C., Carr, J., Chan, P., Chang-Castello, J., Chase, B., Chen-Plotkin, A., Ju Chung, S., Cilia, R., Clarimon, J., Clark, L., Cornejo-Olivas, M., Corvol, J. -C., Cosentino, C., Cras, P., Crosiers, D., Damásio, J., Das, P., de Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E. M., Genç, G., Giladi, N., Goldwurm, S., Gomez-Esteban, J. C., Gómez-Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R. A., Hedera, P., Hentati, F., Hertz, J. M., Holton, J. L., Houlden, H., Hutz, M. H., Ikeuchi, T., Illarioshkin, S., Inca-Martinez, M., Infante, J., Jankovic, J., Jeon, B. S., Jesús, S., Jimenez-Del-Rio, M., Kaasinen, V., Kataoka, H., Kawakami, H., Kim, Y. J., Klivényi, P., Koks, S., König, I. R., Kostić, V., Koziorowski, D., Krüger, R., Krygowska-Wajs, A., Kulisevsky, J., Lai, D., Lang, A., LeDoux, M., Lesage, S., Lim, S. -Y., Lin, C. -H., Lohmann, K., Lopera, F., Lopez, G., Lu, C. -S., Lynch, T., Machaczka, M., Madoev, H., Magalhães, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M. H., Mata, I., Mazzetti, P., Mellick, G., Menéndez-González, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R. P., Naito, A., Olszewska, D. A., Ozelius, L. J., Padmanabhan, S., Paisán-Ruiz, C., Payami, H., Peluso, S., Petkovic, S., Petrucci, S., Pezzoli, G., Pimentel, M., Pirker, W., Pramstaller, P. P., Pulkes, T., Puschmann, A., Quattrone, A., Raggio, V., Ransmayr, G., Rieder, C., Riess, O., Rodriguez-Porcel, F., Rogaeva, E., Ross, O. A., Ruiz-Martinez, J., Sammler, E., San Luciano, M., Satake, W., Saunders-Pullman, R., Sazci, A., Scherzer, C., Schrag, A., Schumacher-Schuh, A., Sharma, M., Sidransky, E., Singleton, A. B., Petersen, M. S., Smolders, S., Spitz, M., Stefanis, L., Struhal, W., Sue, C. M., Swan, M., Swanberg, M., Taba, P., Taipa, R., Tan, M., Tan, A. H., Tan, E. -K., Tang, B., Tayebi, N., Thaler, A., Thomas, A., Toda, T., Toft, M., Torres, L., Tumas, V., Valente, E. M., Van Broeckhoven, C., Vecsei, L., Velez-Pardo, C., Vidailhet, M., Warner, T. T., Williams-Gray, C. H., Winkelmann, J., Woitalla, D., Wood, N. W., Wszolek, Z. K., Wu, R. -M., Wu, Y. -R., Xie, T., Yoshino, H., Zhang, B., Zimprich, A.

المساهمون: Vollstedt, E. -J., Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad-Annuar, A., Albanese, A., Alcalay, R. N., Al-Mubarak, B., Alvarez, V., Andree-Muñoz, B., Annesi, G., Appel-Cresswell, S., Arkadir, D., Armasu, S., Barber, T. R., Bardien, S., Barkhuizen, M., Barrett, M. J., Başak, A. N., Beach, T., Benitez, B. A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brücke, T., Brüggemann, N., Camacho, M., Cardoso, F., Belin, A. C., Carr, J., Chan, P., Chang-Castello, J., Chase, B., Chen-Plotkin, A., Ju Chung, S., Cilia, R., Clarimon, J., Clark, L., Cornejo-Olivas, M., Corvol, J. -C., Cosentino, C., Cras, P., Crosiers, D., Damásio, J., Das, P., de Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E. M., Genç, G., Giladi, N., Goldwurm, S., Gomez-Esteban, J. C., Gómez-Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R. A., Hedera, P., Hentati, F., Hertz, J. M., Holton, J. L., Houlden, H., Hutz, M. H., Ikeuchi, T., Illarioshkin, S., Inca-Martinez, M., Infante, J., Jankovic, J., Jeon, B. S., Jesús, S., Jimenez-Del-Rio, M., Kaasinen, V.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000475670500001; volume:86; issue:2; firstpage:153; lastpage:157; numberofpages:5; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11576/2669895; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068207273

الاتاحة: http://hdl.handle.net/11576/2669895
https://doi.org/10.1002/ana.25514

المؤلفون: Blauwendraat C., Reed X., Kia D. A., Gan-Or Z., Lesage S., Pihlstrom L., Guerreiro R., Gibbs J. R., Sabir M., Ahmed S., Ding J., Alcalay R. N., Hassin-Baer S., Pittman A. M., Brooks J., Edsall C., Hernandez D. G., Chung S. J., Goldwurm S., Toft M., Schulte C., Bras J., Wood N. W., Brice A., Morris H. R., Scholz S. W., Nalls M. A., Singleton A. B., Cookson M. R., Gasser T., Sharma M., Simon-Sanchez J., Heutink P., Giri A., Brockmann K., Oertel W., Klein C., Mohamed F., Malard L., Elbaz A., Corti O., Drouet V., Corvol J. -C., Tesei S., Canesi M., Valente E. M., Petrucci S., Ginevrino M., Aasly J., Houlden H., Hardy J., Orr-Urtreger A., Giladi N., Ferreira J., Guedes L. C., Bouca-Machado R., Coelho M., Rosa M. M., Tolosa E., Fernandez R., Ezquerra M., Marti M. J., Kruger R., May P., Glaab E., Balling R., Agid Y., Anheim M., Bonnet A. -M., Borg M., Broussolle E., Damier P., Destee A., Durr A., Durif F., Krack P., Klebe S., Lohmann E., Martinez M., Penet C., Pollak P., Rascol O., Tison F., Tranchant C., Verin M., Viallet F., Vidailhet M., Noyce A. J., Kaiyrzhanov R., Middlehurst B., Tan M., Plun-Favreau H., Holmans P., Trabzuni D., Quinn J., Mok K. Y., Kinghorn K. J., Billingsley K., Lewis P., Lovering R., R'Bibo L., Manzoni C., Rizig M., Ryten M., Guelfi S., Escott-Price V., Chelban V., Foltynie T., Williams N., Shashakin C., Zharkinbekova N., Zholdybayeva E., Aitkulova A., Danjou F., Rizzu P., Bandres-Ciga S., Craig D. W., Faghri F., Van Keuren-Jensen K., Shulman J. M., Leonard H. L., Robak L., Lubbe S., Finkbeiner S., Mencacci N. E., Lungu C., Rouleau G. A., Van Hilten J. J., Marinus J., Botia J. A., Clarimon J., Pastor P., Zimprich A., Koks S., Taba P.

المساهمون: Blauwendraat, C., Reed, X., Kia, D. A., Gan-Or, Z., Lesage, S., Pihlstrom, L., Guerreiro, R., Gibbs, J. R., Sabir, M., Ahmed, S., Ding, J., Alcalay, R. N., Hassin-Baer, S., Pittman, A. M., Brooks, J., Edsall, C., Hernandez, D. G., Chung, S. J., Goldwurm, S., Toft, M., Schulte, C., Bras, J., Wood, N. W., Brice, A., Morris, H. R., Scholz, S. W., Nalls, M. A., Singleton, A. B., Cookson, M. R., Gasser, T., Sharma, M., Simon-Sanchez, J., Heutink, P., Giri, A., Brockmann, K., Oertel, W., Klein, C., Mohamed, F., Malard, L., Elbaz, A., Corti, O., Drouet, V., Corvol, J. -C., Tesei, S., Canesi, M., Valente, E. M., Petrucci, S., Ginevrino, M., Aasly, J., Houlden, H., Hardy, J., Orr-Urtreger, A., Giladi, N., Ferreira, J., Guedes, L. C., Bouca-Machado, R., Coelho, M., Rosa, M. M., Tolosa, E., Fernandez, R., Ezquerra, M., Marti, M. J., Kruger, R., May, P., Glaab, E., Balling, R., Agid, Y., Anheim, M., Bonnet, A. -M., Borg, M., Broussolle, E., Damier, P., Destee, A., Durr, A., Durif, F., Krack, P., Klebe, S., Lohmann, E., Martinez, M., Penet, C., Pollak, P., Rascol, O., Tison, F., Tranchant, C., Verin, M., Viallet, F., Vidailhet, M., Noyce, A. J., Kaiyrzhanov, R., Middlehurst, B., Tan, M., Plun-Favreau, H., Holmans, P., Trabzuni, D., Quinn, J., Mok, K. Y., Kinghorn, K. J., Billingsley, K., Topley, Lewi, Lovering, R.

مصطلحات موضوعية: case-control studie, cohort studie, high-throughput nucleotide sequencing, human, leucine-rich repeat serine-threonine protein kinase-2, loss of function mutation, parkinson disease, protein-serine-threonine kinase, sequence analysis, dna, whole exome sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/30039155; info:eu-repo/semantics/altIdentifier/wos/WOS:000449955900015; volume:75; issue:11; firstpage:1416; lastpage:1422; numberofpages:7; journal:JAMA NEUROLOGY; http://hdl.handle.net/11573/1383111; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056328533

الاتاحة: http://hdl.handle.net/11573/1383111
https://doi.org/10.1001/jamaneurol.2018.1885

المؤلفون: Blauwendraat C., Kia D. A., Pihlstrom L., Gan-Or Z., Lesage S., Gibbs J. R., Ding J., Alcalay R. N., Hassin-Baer S., Pittman A. M., Brooks J., Edsall C., Chung S. J., Goldwurm S., Toft M., Schulte C., Hernandez D., Singleton A. B., Nalls M. A., Brice A., Scholz S. W., Wood N. W., Noyce A. J., Tucci A., Charlesworth G., Tan M., Houlden H., Morris H. R., Plun-Favreau H., Holmans P., Hardy J., Bras J. M., Quinn J., Mok K. Y., Billingsley K., Lewis P., Guerreiro R., Lovering R., Ogalla R. D., R'bibo L., Ryten M., Escott-Price V., Chelban V., Foltynie T., Sheerin U. -M., Williams N., Danjou F., Corvol J. -C., Martinez M., Giri A., Oehmig A., Brockmann K., Simon-Sanchez J., Heutink P., Rizzu P., Sharma M., Gasser T., Nicolas A., Cookson M. R., Bandres-Ciga S., Faghri F., Shulman J. M., Robak L., Lubbe S., Finkbeiner S., Mencacci N. E., Lungu C., Reed X., Rouleau G. A., Hilten J. J., Marinus J., Botia J. A., Clarimon J., Dols-Icardo O., Kulisevsky J., Pagonabarraga J., Marin J., Koks S., Taba P., Kruger R., Wang L., Oertel W., Klein C., Mohamed F., Artaud F., Elbaz A., Corti O., Drouet V., Tesei S., Canesi M., Valente E. M., Petrucci S., Ginevrino M., Aasly J., Saetehaug C., Henriksen S. P., Orr-Urtreger A., Giladi N., Ferreira J., Guedes L. C., Bouca-Machado R., Coelho M., Rosa M. M., Tolosa E., Fernandez-Santiago R., Ezquerra M., Marti M. J., May P., Glaab E., Balling R.

المساهمون: Blauwendraat, C., Kia, D. A., Pihlstrom, L., Gan-Or, Z., Lesage, S., Gibbs, J. R., Ding, J., Alcalay, R. N., Hassin-Baer, S., Pittman, A. M., Brooks, J., Edsall, C., Chung, S. J., Goldwurm, S., Toft, M., Schulte, C., Hernandez, D., Singleton, A. B., Nalls, M. A., Brice, A., Scholz, S. W., Wood, N. W., Noyce, A. J., Tucci, A., Charlesworth, G., Tan, M., Houlden, H., Morris, H. R., Plun-Favreau, H., Holmans, P., Hardy, J., Bras, J. M., Quinn, J., Mok, K. Y., Billingsley, K., Lewis, P., Guerreiro, R., Lovering, R., Ogalla, R. D., R'Bibo, L., Ryten, M., Escott-Price, V., Chelban, V., Foltynie, T., Sheerin, U. -M., Williams, N., Danjou, F., Corvol, J. -C., Martinez, M., Giri, A., Oehmig, A., Brockmann, K., Simon-Sanchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M. R., Bandres-Ciga, S., Faghri, F., Shulman, J. M., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N. E., Lungu, C., Reed, X., Rouleau, G. A., Hilten, J. J., Marinus, J., Botia, J. A., Clarimon, J., Dols-Icardo, O., Kulisevsky, J., Pagonabarraga, J., Marin, J., Koks, S., Taba, P., Kruger, R., Wang, L., Oertel, W., Klein, C., Mohamed, F., Artaud, F., Elbaz, A., Corti, O., Drouet, V., Tesei, S., Canesi, M., Valente, E. M., Petrucci, S., Ginevrino, M., Aasly, J., Saetehaug, C., Henriksen, S. P., Orr-Urtreger, A., Giladi, N., Ferreira, J.

مصطلحات موضوعية: H50Q, His50Gln, Parkinson's disease, SNCA

وصف الملف: STAMPA

Relation: volume:64; firstpage:159e5; lastpage:159e8; numberofpages:1; journal:NEUROBIOLOGY OF AGING; https://hdl.handle.net/11571/1465414; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041606064

الاتاحة: https://hdl.handle.net/11571/1465414
https://doi.org/10.1016/j.neurobiolaging.2017.12.012

المؤلفون: Vollstedt, E, Kasten, M, Klein, C, Aasly, J, Adler, C, Ahmad-Annuar, A, Albanese, A, Alcalay, R, Al-Mubarak, B, Alvarez, V, Andree-Munoz, B, Annesi, G, Appel-Cresswell, S, Arkadir, D, Armasu, S, Barber, T, Bardien, S, Barkhuizen, M, Barrett, M, Basak, A, Beach, T, Benitez, B, Berg, D, Bhatia, K, Binkofski, F, Blauwendraat, C, Bonifati, V, Borges, V, Bozi, M, Brice, A, Brighina, L, Brockmann, K, Brucke, T, Bruggemann, N, Camacho, M, Cardoso, F, Belin, A, Carr, J, Chan, P, Chang-Castello, J, Chase, B, Chen-Plotkin, A, Ju Chung, S, Cilia, R, Clarimon, J, Clark, L, Cornejo-Olivas, M, Corvol, J, Cosentino, C, Cras, P, Crosiers, D, Damasio, J, Das, P, de Carvalho Aguiar, P, De Michele, G, De Rosa, A, Dieguez, E, Dorszewska, J, Erer, S, Ertan, S, Farrer, M, Fedotova, E, Ferese, R, Ferrarese, C, Ferraz, H, Fiala, O, Foroud, T, Friedman, A, Frigerio, R, Funayama, M, Gambardella, S, Garraux, G, Gatto, E, Genc, G, Giladi, N, Goldwurm, S, Gomez-Esteban, J, Gomez-Garre, P, Gorostidi, A, Grosset, D, Hanagasi, H, Hardy, J, Hassan, A, Hattori, N, Hauser, R, Hedera, P, Hentati, F, Hertz, J, Holton, J, Houlden, H, Hutz, M, Ikeuchi, T, Illarioshkin, S, Inca-Martinez, M, Infante, J, Jankovic, J, Jeon, B, Jesus, S, Jimenez-Del-Rio, M, Kaasinen, V, Kataoka, H, Kawakami, H, Kim, Y, Klivenyi, P, Koks, S, Konig, I, Kostic, V, Koziorowski, D, Kruger, R, Krygowska-Wajs, A, Kulisevsky, J, Lai, D, Lang, A, Ledoux, M, Lesage, S, Lim, S, Lin, C, Lohmann, K, Lopera, F, Lopez, G, Lu, C, Lynch, T, Machaczka, M, Madoev, H, Magalhaes, M, Majamaa, K, Maraganore, D, Marder, K, Markopoulou, K, Martikainen, M, Mata, I, Mazzetti, P, Mellick, G, Menendez-Gonzalez, M, Micheli, F, Mirelman, A, Mir, P, Morino, H, Morris, H, Munhoz, R, Naito, A, Olszewska, D, Ozelius, L, Padmanabhan, S, Paisan-Ruiz, C, Payami, H, Peluso, S, Petkovic, S, Petrucci, S, Pezzoli, G, Pimentel, M, Pirker, W, Pramstaller, P, Pulkes, T, Puschmann, A, Quattrone, A, Raggio, V, Ransmayr, G, Rieder, C, Riess, O, Rodriguez-Porcel, F, Rogaeva, E, Ross, O, Ruiz-Martinez, J, Sammler, E, San Luciano, M, Satake, W, Saunders-Pullman, R, Sazci, A, Scherzer, C, Schrag, A, Schumacher-Schuh, A, Sharma, M, Sidransky, E, Singleton, A, Petersen, M, Smolders, S, Spitz, M, Stefanis, L, Struhal, W, Sue, C, Swan, M, Swanberg, M, Taba, P, Taipa, R, Tan, M, Tan, A, Tan, E, Tang, B, Tayebi, N, Thaler, A, Thomas, A, Toda, T, Toft, M, Torres, L, Tumas, V, Valente, E, Van Broeckhoven, C, Vecsei, L, Velez-Pardo, C, Vidailhet, M, Warner, T, Williams-Gray, C, Winkelmann, J, Woitalla, D, Wood, N, Wszolek, Z, Wu, R, Wu, Y, Xie, T, Yoshino, H, Zhang, B, Zimprich, A, Vollstedt E. -J., Kasten M., Klein C., Aasly J., Adler C., Ahmad-Annuar A., Albanese A., Alcalay R. N., Al-Mubarak B., Alvarez V., Andree-Munoz B., Annesi G., Appel-Cresswell S., Arkadir D., Armasu S., Barber T. R., Bardien S., Barkhuizen M., Barrett M. J., Basak A. N., Beach T., Benitez B. A., Berg D., Bhatia K., Binkofski F., Blauwendraat C., Bonifati V., Borges V., Bozi M., Brice A., Brighina L., Brockmann K., Brucke T., Bruggemann N., Camacho M., Cardoso F., Belin A. C., Carr J., Chan P., Chang-Castello J., Chase B., Chen-Plotkin A., Ju Chung S., Cilia R., Clarimon J., Clark L., Cornejo-Olivas M., Corvol J. -C., Cosentino C., Cras P., Crosiers D., Damasio J., Das P., de Carvalho Aguiar P., De Michele G., De Rosa A., Dieguez E., Dorszewska J., Erer S., Ertan S., Farrer M., Fedotova E., Ferese R., Ferrarese C., Ferraz H., Fiala O., Foroud T., Friedman A., Frigerio R., Funayama M., Gambardella S., Garraux G., Gatto E. M., Genc G., Giladi N., Goldwurm S., Gomez-Esteban J. C., Gomez-Garre P., Gorostidi A., Grosset D., Hanagasi H., Hardy J., Hassan A., Hattori N., Hauser R. A., Hedera P., Hentati F., Hertz J. M., Holton J. L., Houlden H., Hutz M. H., Ikeuchi T., Illarioshkin S., Inca-Martinez M., Infante J., Jankovic J., Jeon B. S., Jesus S., Jimenez-Del-Rio M., Kaasinen V., Kataoka H., Kawakami H., Kim Y. J., Klivenyi P., Koks S., Konig I. R., Kostic V., Koziorowski D., Kruger R., Krygowska-Wajs A., Kulisevsky J., Lai D., Lang A., LeDoux M., Lesage S., Lim S. -Y., Lin C. -H., Lohmann K., Lopera F., Lopez G., Lu C. -S., Lynch T., Machaczka M., Madoev H., Magalhaes M., Majamaa K., Maraganore D., Marder K., Markopoulou K., Martikainen M. H., Mata I., Mazzetti P., Mellick G., Menendez-Gonzalez M., Micheli F., Mirelman A., Mir P., Morino H., Morris H., Munhoz R. P., Naito A., Olszewska D. A., Ozelius L. J., Padmanabhan S., Paisan-Ruiz C., Payami H., Peluso S., Petkovic S., Petrucci S., Pezzoli G., Pimentel M., Pirker W., Pramstaller P. P., Pulkes T., Puschmann A., Quattrone A., Raggio V., Ransmayr G., Rieder C., Riess O., Rodriguez-Porcel F., Rogaeva E., Ross O. A., Ruiz-Martinez J., Sammler E., San Luciano M., Satake W., Saunders-Pullman R., Sazci A., Scherzer C., Schrag A., Schumacher-Schuh A., Sharma M., Sidransky E., Singleton A. B., Petersen M. S., Smolders S., Spitz M., Stefanis L., Struhal W., Sue C. M., Swan M., Swanberg M., Taba P., Taipa R., Tan M., Tan A. H., Tan E. -K., Tang B., Tayebi N., Thaler A., Thomas A., Toda T., Toft M., Torres L., Tumas V., Valente E. M., Van Broeckhoven C., Vecsei L., Velez-Pardo C., Vidailhet M., Warner T. T., Williams-Gray C. H., Winkelmann J., Woitalla D., Wood N. W., Wszolek Z. K., Wu R. -M., Wu Y. -R., Xie T., Yoshino H., Zhang B., Zimprich A.

مصطلحات الفهرس: genetic, Parkinson desease, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/279948
info:eu-repo/semantics/altIdentifier/wos/WOS:000475670500001
volume:86
issue:2
firstpage:153
lastpage:157
numberofpages:5
journal:ANNALS OF NEUROLOGY

المؤلفون: Kumar, K. R., Ramirez, A., Gobel, A., Kresojevic, N., Svetel, M., Lohmann, K., M Sue, C., Rolfs, A., Mazzulli, J. R., Alcalay, R. N., Krainc, D., KLEIN, Christine, Kostic, V., GRÜNEWALD, Anne

المصدر: European Journal of Neurology, 20 (2), 402-5 (2013)

مصطلحات موضوعية: Adult, Aged, 80 and over, Alleles, Case-Control Studies, European Continental Ancestry Group/genetics, Female, Genetic Predisposition to Disease/genetics, Genotype, Glucosylceramidase/genetics, Humans, Jews/genetics, Male, Middle Aged, Mutation, Parkinson Disease/genetics, Serbia, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: urn:issn:1351-5101; urn:issn:1468-1331; https://orbilu.uni.lu/handle/10993/24440; info:hdl:10993/24440; info:pmid:22812582; wos:000314997200033

الاتاحة: https://orbilu.uni.lu/handle/10993/24440
https://doi.org/10.1111/j.1468-1331.2012.03817.x

المؤلفون: Arkadir, D., Noreau, A., Goldman, J. S., Rouleau, G. A., Alcalay, R. N.

المصدر: European Journal of Neurology ; volume 21, issue 1 ; ISSN 1351-5101 1468-1331

الاتاحة: http://dx.doi.org/10.1111/ene.12284
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fene.12284
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.12284

المؤلفون: Alcalay, R. N., Caccappolo, E., Mejia-Santana, H., Tang, M.-X., Rosado, L., Orbe Reilly, M., Ruiz, D., Ross, B., Verbitsky, M., Kisselev, S., Louis, E., Comella, C., Colcher, A., Jennings, D., Nance, M., Bressman, S., Scott, W. K., Tanner, C., Mickel, S., Andrews, H.

المصدر: Neurology; 5/1/2012, Vol. 78 Issue 18, p1434-1440, 7p

المؤلفون: Arkadir, D., Noreau, A., Goldman, J. S., Rouleau, G. A., Alcalay, R. N.

المصدر: European Journal of Neurology; Jan2014, Vol. 21 Issue 1, pe2-e2, 1p

مصطلحات موضوعية: FAMILIAL spastic paraplegia, POLYNEUROPATHIES

المؤلفون: Uladzislau Rudakou, Edward A. Fon, Petra Oliva, Guy A. Rouleau, Yves Dauvilliers, Elena Antelmi, Birgit Högl, Anna Heidbreder, Jean-François Trempe, Christopher Liong, Bouchra Ouled Amar Bencheikh, Pavlina Wolf, Isabelle Arnulf, Luigi Ferini-Strambi, A. Desautels, Jennifer A. Ruskey, Peter Young, Nicolas Dupré, Valérie Cochen De Cock, Giuseppe Plazzi, Lior Greenbaum, Michele T.M. Hu, Lynne Krohn, Roy N. Alcalay, Guillaume Lamoureux, Ziv Gan-Or, Xiaokui Kate Zhang, Jacques Montplaisir, S. Hassin-Baer, Dan Spiegelman, Ronald B. Postuma, Ambra Stefani, Jean-François Gagnon, Christelle Charley Monaca, Benoît Vanderperre, Sandra B. Laurent, Tugba N. Ozturk

المساهمون: Department of Human Genetics [Montréal], McGill University = Université McGill [Montréal, Canada], Montreal Neurological Institute and Hospital, Concordia University [Montreal], Centre for Research in Molecular Modeling and Department of Chemistry & Biochemistry, PROTEO, The Quebec Network for Research on Protein Function, Engineering, and Applications, Institut Armand Frappier (INRS-IAF), Institut National de la Recherche Scientifique [Québec] (INRS)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Recherche Scientifique [Québec] (INRS)-Réseau International des Instituts Pasteur (RIIP)-Université de Sherbrooke (UdeS)-Université Laval [Québec] (ULaval)-McGill University = Université McGill [Montréal, Canada]-University of Ottawa [Ottawa]-Université du Québec à Trois-Rivières (UQTR)-Université de Montréal (UdeM)-TransBiotech, Lévis-Concordia University [Montreal]-Université du Québec à Montréal = University of Québec in Montréal (UQAM), Department of Neurology and Neurosurgery [Montreal], McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Department of Physiology, Anatomy and Genetics [Oxford], University of Oxford [Oxford], Nuffield Department of Clinical Neurosciences [Oxford], Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Universität Innsbruck [Innsbruck], Service de neurophysiologie clinique (CHRU Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Alma Mater Studiorum University of Bologna (UNIBO), Institute of Neurological Sciences of Bologna IRCCS, Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), University of Münster, Clinique Beau Soleil [Montpellier], Euromov (EuroMov), Université de Montpellier (UM), University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), Sanofi Genzyme, The Danek Gertner Institute of Genetics, Chaim Sheba Medical Center, Chaim Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University [Tel Aviv], Columbia University College of Physicians and Surgeons, Center for advanced research in sleep medicine, Montreal, Université de Montréal (UdeM), Université du Québec à Montréal = University of Québec in Montréal (UQAM), Axe Neurosciences [CHU Québec], Centre Hospitalier Université Laval [Quebec] (CHUL), CHU de Québec–Université Laval, Université Laval [Québec] (ULaval)-Université Laval [Québec] (ULaval)-CHU de Québec–Université Laval, Université Laval [Québec] (ULaval)-Université Laval [Québec] (ULaval)-Centre de recherche du CHU de Québec-Université Laval (CRCHUQ), Université Laval [Québec] (ULaval)-Université Laval [Québec] (ULaval), Research Center of CIUSSS of the North of Montreal and Department of Psychiatry, University of Montreal, Montreal, Quebec, Canada, Laval University Medical center, Université Laval [Québec] (ULaval), McGill University Health Center [Montreal] (MUHC), Department of Pharmacology and Therapeutics [Montréal], Center for Computational and Integrative Biology [Camden] (CCIB), Rutgers University [Camden], Rutgers University System (Rutgers)-Rutgers University System (Rutgers), Krohn, L., Ozturk, T. N., Vanderperre, B., Ouled Amar Bencheikh, B., Ruskey, J. A., Laurent, S. B., Spiegelman, D., Postuma, R. B., Arnulf, I., M. T. M., Hu, Dauvilliers, Y., Hogl, B., Stefani, A., Monaca, C. C., Plazzi, G., Antelmi, E., Ferini-Strambi, L., Heidbreder, A., Rudakou, U., Cochen De Cock, V., Young, P., Wolf, P., Oliva, P., Zhang, X. K., Greenbaum, L., Liong, C., Gagnon, J. -F., Desautels, A., Hassin-Baer, S., Montplaisir, J. Y., Dupre, N., Rouleau, G. A., Fon, E. A., Trempe, J. -F., Lamoureux, G., Alcalay, R. N., Gan-Or, Z., Krohn L., Ozturk T.N., Vanderperre B., Ouled Amar Bencheikh B., Ruskey J.A., Laurent S.B., Spiegelman D., Postuma R.B., Arnulf I., Hu M.T.M., Dauvilliers Y., Hogl B., Stefani A., Monaca C.C., Plazzi G., Antelmi E., Ferini-Strambi L., Heidbreder A., Rudakou U., Cochen De Cock V., Young P., Wolf P., Oliva P., Zhang X.K., Greenbaum L., Liong C., Gagnon J.-F., Desautels A., Hassin-Baer S., Montplaisir J.Y., Dupre N., Rouleau G.A., Fon E.A., Trempe J.-F., Lamoureux G., Alcalay R.N., Gan-Or Z.

المصدر: Annals of Neurology
Annals of Neurology, Wiley, 2019, 87 (1), pp.139-153. ⟨10.1002/ana.25629⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Potassium Channels, Synucleinopathies, Genome-wide association study, REM Sleep Behavior Disorder, MESH: Glucosylceramidase, MESH: Genotype, 0302 clinical medicine, TMEM175/GAK/DGKQ, genetics, MESH: Molecular Dynamics Simulation, Parkinson, Genetics, MESH: Aged, MESH: Middle Aged, synucleinopaties, MESH: Polymorphism, Single Nucleotide, MESH: Genetic Predisposition to Disease, Parkinson Disease, MESH: Potassium Channels, Middle Aged, MESH: Case-Control Studies, Transmembrane protein, Neurology, MESH: Synucleinopathies, Glucosylceramidase, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, synucleinopathies, MESH: Models, Molecular, Adult, Genotype, Locus (genetics), Single-nucleotide polymorphism, Biology, Molecular Dynamics Simulation, Polymorphism, Single Nucleotide, 03 medical and health sciences, Humans, Genetic Predisposition to Disease, Homology modeling, Genetic association, Aged, MESH: Humans, MESH: Adult, MESH: Male, 030104 developmental biology, REM sleep behavior disorder, MESH: REM Sleep Behavior Disorder, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Case-Control Studies, Neurology (clinical), Lysosomes, Glucocerebrosidase, MESH: Female, 030217 neurology & neurosurgery, synucleinopathie, MESH: Parkinson Disease, MESH: Lysosomes

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6784f7176e44e8bfcfec1f404e8e988b
https://pubmed.ncbi.nlm.nih.gov/31658403