학술논문
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'학술논문'
에서 검색결과 215건 | 목록
1~20
Academic Journal
Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate; Kershaw, Christopher; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry; Bello, Abiodun H; Iyagba, Alagoma; Macaya Ruiz, Alfons; Nabil, Amira; Gevorgyan, Ani; Muhammad, Anees; Pérez-Dueñas, Belen; Monteagudo Sanchez, Benigno; Sukhudyan, Biayna; Marinova Karashova, Blagovesta; Sanlidag, Burcin; Scuderi, Carmela; Shashkin, Chingiz; Spanaki, Cleanthe; Dardiotis, Efthymios; Torti, Erin; Nwazor, Ernest; Afzal, Erum; Borgione, Eugenia; Shaikh, Farooq; Al-Mutairi, Fuad; Di Rosa, Gabriella; Heimer, Gali; Xiromerisiou, Georgia; Melikishvili, Gia; Morello, Giovanna; Kathom, Hadil; Per, Hüseyin; Tomoum, Hoda; Javed, Iram; Al-Khawaja, Issam; Koneyev, Kairgali; Salayev, Kamran; Moodley, Kaminie; Senkevich, Konstantin; Arning, Larissa; Fidani, Liana; Taiwo, Lolade; Beridze, Maia; Ganieva, Manizha; Isayan, Mariam; Kekenadze, Mariam; García-Silva, Mayte; Vikelis, Michail; Tabatadze, Nazi; Zharkynbekova, Nazira; Noureen Rana, Nuzhat; Oguntunde, Olapeju; Ekenze, Oluchi; Ojo, Oluwadamilola O; Atawneh, Osama; Nicolaides, Paola; Kazadi, Prince; Kaiyrzhanov, Rauan; Maroofian, Reza; Boles, Richard; Ibadova, Rima; Savasta, Salvatore; Khachatryan, Samson; Portaro, Simona; Guliyeva, Sughra; Stojkovic, Tanya; Williams, Uduak; Guliyeva, Ulviyya; Salpietro, Vincenzo; Chelban, Viorica; Nachbauer, Wolfgang; Aughey, Gabriel N; Mine, Jun; Wahab, Kolawole; Zollo, Massimo; Cali, Elisa; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Pineda-Marfa, Mercedes; Aguennouz, Mhammed; Ferrari, Michel D; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; Mcfarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Abd El Hamed, Mohamed A; Murphy, David; Flemming, Kristina; Obiabo, Yahaya; Tavadyan, Zaruhi; Zholdasova, Zhibek; Sardar, Zomer; Al-Ajmi, Abdullah; Verrotti, Alberto; Van Den Maagdenberg, Arn M J M; Garavaglia, Barbara; Cormand, Bru; Timmann, Dagmar; Avdjieva, Daniela; Zamba Papanicolaou, Eleni; Alkuraya, Fowzan S; Silvestri, Gabriella; Koutsis, George; Marseglia, Giangluigi; Önemli Mungan, Halise Neslihan; Goraya, Jatinder S; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Badv, Reza Shervin; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; El Khorassani, Mohamed; Komolafe, Morenikeji; Okubadejo, Njideka U; Striano, Pasquale; Veggiotti, Pierangelo; Tincheva, Radka; Kirmani, Salman; Mangano, Salvatore; Abubakar, Sanni; Zhumakhanov, Dauren; Dauvilliers, Yves A; Sultan, Tipu; Boesch, Sylvia; Groppa, Stanislav; Ahmed Hamed, Sherifa; Lim, Shen-Yang; Ibrahim, Shahnaz; Banu, Selina; Papacostas, Savvas
Brain
Aughey, G N, Cali, E, Maroofian, R, Zaki, M S, Pagnamenta, A T, Ali, Z, Abdulllah, U, Rahman, F, Menzies, L, Shafique, A, Suri, M, Roze, E, Aguennouz, M, Ghizlane, Z, Saadi, S M, Fatima, A, Cheema, H A, Anjum, M N, Morel, G, Robin, S, McFarland, R, Altunoglu, U, Kraus, V, Shoukier, M, Murphy, D, Flemming, K, Yttervik, H, Rhouda, H, Lesca, G, Chatron, N, Rossi, M, Murtaza, B N, Ur Rehman, M, Lord, J, Giacopuzzi, E, Hayat, A, Siraj, M, Shervin Badv, R, Seo, G H, Beetz, C, Kayserili, H, Krioulie, Y, Chung, W K, Naz, S, Maqbool, S, Chandler, K E, Kershaw, C J, Wright, T, Banka, S, Gleeson, J G, Taylor, J C, Efthymiou, S, Baig, S M, Severino, M, Jepson, J E C & Houlden, H 2025, ' Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder ', Brain : a journal of neurology, vol. 148, no. 4, pp. 1194-1211 . https://doi.org/10.1093/brain/awae363
Aughey, G N, Cali, E, Maroofian, R, Zaki, M S, Pagnamenta, A T, Ali, Z, Abdulllah, U, Rahman, F, Menzies, L, Shafique, A, Suri, M, Roze, E, Aguennouz, M, Ghizlane, Z, Saadi, S M, Fatima, A, Cheema, H A, Anjum, M N, Morel, G, Robin, S, McFarland, R, Altunoglu, U, Kraus, V, Shoukier, M, Murphy, D, Flemming, K, Yttervik, H, Rhouda, H, Lesca, G, Chatron, N, Rossi, M, Murtaza, B N, Ur Rehman, M, Lord, J, Giacopuzzi, E, Hayat, A, Siraj, M, Shervin Badv, R, Seo, G H, Beetz, C, Kayserili, H, Krioulie, Y, Chung, W K, Naz, S, Maqbool, S, Chandler, K E, Kershaw, C J, Wright, T, Banka, S, Gleeson, J G, Taylor, J C, Efthymiou, S, Baig, S M, Severino, M, Jepson, J E C & Houlden, H 2025, 'Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder', Brain : a journal of neurology, vol. 148, no. 4, pp. 1194-1211. https://doi.org/10.1093/brain/awae363
Aughey, G N, Cali, E, Maroofian, R, Zaki, M S, Pagnamenta, A T, Ali, Z, Abdulllah, U, Rahman, F, Menzies, L, Shafique, A, Suri, M, Roze, E, Aguennouz, M, Ghizlane, Z, Saadi, S M, Fatima, A, Cheema, H A, Anjum, M N, Morel, G, Robin, S, McFarland, R, Altunoglu, U, Kraus, V, Shoukier, M, Murphy, D, Flemming, K, Yttervik, H, Rhouda, H, Lesca, G, Chatron, N, Rossi, M, Murtaza, B N, Ur Rehman, M, Lord, J, Giacopuzzi, E, Hayat, A, Siraj, M, Shervin Badv, R, Seo, G H, Beetz, C, Kayserili, H, Krioulie, Y, Chung, W K, Naz, S, Maqbool, S, Chandler, K E, Kershaw, C J, Wright, T, Banka, S, Gleeson, J G, Taylor, J C, Efthymiou, S, Baig, S M, Severino, M, Jepson, J E C & Houlden, H 2025, ' Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder ', Brain : a journal of neurology, vol. 148, no. 4, pp. 1194-1211 . https://doi.org/10.1093/brain/awae363
Aughey, G N, Cali, E, Maroofian, R, Zaki, M S, Pagnamenta, A T, Ali, Z, Abdulllah, U, Rahman, F, Menzies, L, Shafique, A, Suri, M, Roze, E, Aguennouz, M, Ghizlane, Z, Saadi, S M, Fatima, A, Cheema, H A, Anjum, M N, Morel, G, Robin, S, McFarland, R, Altunoglu, U, Kraus, V, Shoukier, M, Murphy, D, Flemming, K, Yttervik, H, Rhouda, H, Lesca, G, Chatron, N, Rossi, M, Murtaza, B N, Ur Rehman, M, Lord, J, Giacopuzzi, E, Hayat, A, Siraj, M, Shervin Badv, R, Seo, G H, Beetz, C, Kayserili, H, Krioulie, Y, Chung, W K, Naz, S, Maqbool, S, Chandler, K E, Kershaw, C J, Wright, T, Banka, S, Gleeson, J G, Taylor, J C, Efthymiou, S, Baig, S M, Severino, M, Jepson, J E C & Houlden, H 2025, 'Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder', Brain : a journal of neurology, vol. 148, no. 4, pp. 1194-1211. https://doi.org/10.1093/brain/awae363
Academic Journal
Grobe-Einsler, Marcus ; Borel, Stéphanie ; Buchholz, Maresa ; Sayah, Sabrina ; Hilab, Rania ; Pierron, Lucie ; Iskandar, Audrey ; Humphries, Brittany ; Ewenczyk, Claire ; Heinzmann, Anna ; Atencio, Mariana ; Feldmann, Katrin ; Maas, Vivian ; Faber, Jennifer ; Boesch, Sylvia ; Indelicato, Elisabetta ; Reetz, Kathrin ; Schulz, Jörg B. ; Bischoff, Almut T. ; Klopstock, Thomas ; Schöls, Ludger ; Minnerop, Martina ; Timmann, Dagmar ; Davies, Elin H. ; Klockgether, Thomas ; Durr, Alexandra ; Xie, Feng ; Michalowsky, Bernhard
In The Lancet Regional Health - Europe February 2026 61
Academic Journal
Freitas, Daniela; Gwala, Shannon; Henry, Gwénaële; Lazaridou, Athina; Boesch, Christine; Duijsens, Dorine; Wheller, Faye; Lopez-Rodulfo, Ivan; Kotsiou, Kali; Corbin, Kendall; Alongi, Marilisa; Martinez, Mario; Hafiz, Maryam; Tomassen, Monic; Perez-Moral, Natalia; Vidal, Natalia; Ariëns, Renata; Simsek, Sebnem; El, Sedef; Karakaya, Sibel; Le Feunteun, Steven; Bastiaan-Net, Shanna; Krause, Svenja; Zhang, Bin; Orfila, Caroline; Ballance, Simon; Grassby, Terri
Sci Rep
Academic Journal
Guillaume Roger; Grégory Ducrocq; Jules Mesnier; Neila Sayah; Jérémie Abtan; Roberto Ferrari; Ian Ford; Kim M Fox; Jean-Claude Tardif; Michal Tendera; Laurent J Feldman; Yedid Elbez; Philippe Gabriel Steg; P G Steg; R Ferrari; I Ford; K M Fox; J C Tardif; M Tendera; Fernando José Sokn; Christopher Reid; Irene Lang; Frank Van den Branden; Luis Machado César; Nazar Luqman; Assen Goudev; Paul Dorian; Dayi Hu; Petr Widimsky; Christian Hassager; Nicolas Danchin; Stefan Kääb; Panos Vardas; Kadhim J Sulaiman; Wael Al Mahmeed; Jassim Al Suwaidi; Ibrahim Al Rashdan; Fuad Abdulkader; Béla Merkely; Upendra Kaul; Kieran Daly; Luigi Tavazzi; Yangsoo Jang; Andrejs Erglis; Aleksandras Laucevičius; Ahmad Nizar Jamaluddin; Marco Alcocer Gamba; Igor I Tulevski; Janina Stępińska; Jońo Morais; Cezar Macarie; Rafael Oganov; Svetlana Shalnova; Muayed Al-Zaibag; Mak Koon Hou; Assoc Gabriel Kamensky; Zlatko Fras; Vojko Kanič; Datshana Prakesh Naidoo; José Luis Zamorano; Hans Rickli; Andres Jaussi; Assoc Charn Sriratanasathavorn; Paul Kalra; Mykhailo Lutai; Oleksandr Parkhomenko; Lan Viet Nguyen; Ronald Henry; A Ahuad Guerrero; M Basara; F Belcastro; J A Bertarini; C Cazenave; H Dreycopp; J Egido; J Estrella; D Garofalo; J Giordano; H Lagioia; N Lago; R La Greca; L Lema; N Lopez Cabanillas; H Luquez; C Miller; E Prada; P Rodenas; R G Schena; G Suarez; A Tomatti; D M Colquhoun; A Conradie; S Cox; D Cross; R Fathi; B Fitzgerald; I Hamilton-Craig; G Holt; S R Jayasinghe; N Mai; J Moolman; R A Motyer; K Phillips; A Rafter; A Rahman; A Rainbird; G Scalia; A Taylor; P West; K Alford; R Amor; P Astridge; B Bastian; F Bates; M M Doohan; J Du Plooy; J C Ford; L Kanagaratnam; V Khoury; R Parkin; J Rogers; G Sceats; A Waldman; D Wang; S Wright; J Ardill; P Aylward; J F Beltrame; J Bradley; W Heddle; M Joseph; S Rajendran; S Varughese; E Brice; B Hockings; J Janssen; A Kozlowski; J O'Shea; J Tan; D A Playford; K Woollard; A Ajani; G Barron; N Better; T Carruthers; B Chan; R Chan; J Cotroneo; J T Counsell; D S Eccleston; B H R Forge; A Hamer; M Horrigan; V M J Jelinek; R Lew; D O'Donnell; F Panetta; M Sebastian; P Shetty; A Soward; P Srivastava; N F Strathmore; S Sylivris; G Szto; V Veth; T Yip; R Badr-Eslam; L Kleemann; G Steurer; B Mörz-Proszowski; F Auhser; U Teleky; G Sepp; A Beinhauer; D Kerö; C Lavicka; T Perger; V Hadjiivanov; M Feldner-Busztin; R Mika; W Filip; A Mahr; J Toplak; M G Millauer; P Haralambus; K Walcher; K H Karner; E Ziak; P Painsipp; U Frank; A Suntinger; W Gritsch; G Bode; R Herrmann; R Raffelsberger; H Topf; E Moser; J Föchterle; T Honsig; K Mayr; H Mayr; R Kaserbacher; A Dzien; E Galehr; M Felbermayer; R Schwarz; R Amini; H Appeltants; A Ballet; C De Niel; G Berkenboom; X Bernard; T Bouvy; M Claeys; Y Dascotte; L Davin; T De Backer; A De Meester; S De Ridder; P Dendale; K Denef; M Emonts; J T M Geraedts; M Goethals; J-M Grégoire; T Herbots; E Hoffer; W H J Hutse; P Lafontaine; P Lefebvre; H Lesseliers; G Odent; A Pasquet; B Peperstraete; P Purnode; A Rogowsky; M Rosseel; J-P Salembier; P Surmont; A M F Vandeplas; S Van de Walle; F Van den Branden; P Vandergoten; B G Vanhauwaert; L Vanneste; J Vercammen; D Verleyen; D Vermander; C Weytjens; A Rocha de Lorenzo; A Felice Castro Issa; B Mahler Mioto; C de Brito Vianna; C Okawabata; E Giusti Rossi; F Fernandes; F Pitella; F Henpin Yue Cesena; J F Monteiro Ferreira; J F Junior; L Tonet; L Machado Cesar; L H Gowdak; M A Matos; M Moretti; R Vicente Amato; R Tadeu Munhoz; S R Coimbra; H N Luqman; S Yakovova; M Mantcheva; V Mincheva; L Baurenski; K Karastanev; V Yordanova; Y Peneva; P Wong; M Fagan; G Sabe; F M Villasenor; W K Son; D E Manyari; N Giacomantonio; B J Lubelsky; D Ezekiel; J C S Leong; A Grover; J Vavougios; Y Pesant; A M Kushner; M M W Yeung; G E Vertes; F J Nasser; D Spensieri; A Roy; T T Nguyen; M Leclair; P Morra; C Everton Biglow; J F Baril; K Lai; D S Wong; V Martinho; G A Antoniadis; G R Searles; D Rouse; G Brisson; S King Wong; R S Collette; M S C Ho; C Constance; R Gendreau; G W Kellam; T A Cieza Lara; H A Boyrazian; M Shamsuzzaman; D R Spink; A P TWong; J Janes; M Czarnecka; D Saulnier; G Levesque; P F Clavette; A Kokis; T L Orenstein; A Shekhar Pandey; J Robb; G Verret; W Czarnecki; F Perreault; G Chouinard; G Lafrance; G M Fullerton; P LeBouthillier; Q H Tran; I Rodriguez Marrero; F B Ramadan; P Talbot; M A Fazil; J Yi-Ming Cha; S Garg; R Chehayeb; B Roy; Y K Chan; H E Harlos; H B Matheson; R Patel; G F Vaz; J S Bhatt; E Liu; T H Ashton; H Sullivan; L P Quinn; K Yared; A K Gupta; B Sullivan; J Campbell; S Pallie; H H Kim; D Savard; J M Cherry; J Gold; G Brouillette; A Belanger; J Berlingieri; W Nisker; G Boutros; A I Bakbak; L Lasalle; L L Chen; M H Chen; M Y Chen; X P Chen; Y D Chen; H L Cong; S F Ding; J T Dong; S H Dong; Z M Du; L L Feng; W Gao; H Ge; S J Ge; T Guo; Y Guo; Z Huang; Y Huo; H G Jin; Y N Ke; H W Li; H M Li; Z C Li; Y J Li; J L Liu; Q L Liu; S W Liu; S Z Lv; W Miao; G Z Pan; X D Pu; Z M Qian; X Su; J H Tao; H P Wang; J A Wang; N F Wang; T Wang; W Wang; Y Wang; M Wei; S Y Wu; Y J Wu; L G Xiong; D Xu; J Yan; K Yang; M Yang; T L Yang; X L Yang; J M Yu; H S Zeng; H Zhang; H Q Zhang; L Zhang; S X Zhou; Y L Zhou; J Bozkova; J Carda; S Dedkova; A Dufka; J Fridrich; T Hodac; R Jirmar; A Kadleckova; M Karlicek; J Krupicka; J Kuchar; V Lavicka; J Leso; Z Lorenc; M Micko; P Navratil; I Petrova; P Povolna; L Raisova; P Raska; V Ravlyk; S Schlesingerova; E Smrckova; P Sternthal; H Stursova; P Vymetal; P Wiggers; J Markenvard; L K Andersen; L Frost; J Refsgaard; S Strange; K Egstrup; R Sykulski; P Hildebrant; T Haghfelt; M Ege; L Saaby; S Cattan; M Adam; M Adda; N Aimouch; L Ardouin; S Assouline; A Aumjaud; C Barjhoux; R Baroudi; C Beaurain; M A Bennouna; A Bernard; C Bernardeau; E Blanc; I Blum; G Bodur; C Boesch; J Bonal; R Bonhomme; J L Bonnet; J Bories; M L Bourachot; F Brumelot; M Brunehaut Petaut; C Brunschwig; P Buffet; P Calmettes; I Centa; B Chartier; P Chemin; F Chometon; J Cohen; R Colin; Y Cottin; F Crespo; A Dabboura; F David; P Dehayes; P Dematteo; O Dibon; P Dodemant; V Dormagen; X Dreyfus; J M Dubois; F Duclos; M Ducoudre; O Duprez; P Durand; E Durand; P Egloff; M Escande; M C Escourrou Berdou; G Esna Ashari; I Feldmann; J Ferrieres; E Foltzer; B Fontanet; M Garandeau; T Garban; S Geffroy; T Gillet; S Godart; P Gosse; P Gratia; O Greiner; A Gueusquin; E Guiu; J M Guy; S Haddad; V Hennebelle; S Honorat; A Hourany; G Hua; P Jacquier; S Jean; R Jeremiasz; P Kohler; A Lacroix; M Leandri; Y Lemiere; M Liautard; P Loheac; J C Louchart; P Magnus; B Maheu; H R Malaterre; G Manchet; J Mantoux; D Manzi; M Marachli; M Maroun; N Meneveau; E Messas; J L Mougeolle; T J Mouhat; J Muller; M Naisseh; P Nocon; D Onger; A Ouguoujil; M Ovize; E Page; K Pareathumby; A Pleskof; P Poinson; G Pons; P Pouderou; J N Poujois; V Probst; F Prunier; L Prunier; V Puel; D Rechtman; R Rennert; B Rijavec; Y Riou; J Robert; C Roche; G Roul; B Salaun; B Saleh; A Sandalian; M Sander; A Schenowitz; A Silvestre; H Soleille; S Tabet; M Tardy; F Thomas; B Truong; J Varaldi; H Vial; J M Walch; M Wazana; R Zeitouni; H Audibert; F Alizon; A Amlaiky; M Asplanato; C Baranes; M Bariaud; F Bernasconi; P Bousquet; C Ceraulo; G De Geeter; J Donetti; B Doucet; J Doucet; T Dutoya; D Ennouchi; M H Fallacher; G Fouquet; V Fourchard; J Gdalia; G Grollier; S Guerard; P A Jeannerat; Y Jobic; V Joulie; P Jourdain; V Jouve; R Ketelers; G Khaznadar; P Kohan; B Koujan; B Lammens; I Landragin; E Le Moal; D M'Bey; F Maes; S Maheas Morlet; R Massabie; D Meddah; F X Meriaux; C Mestre; P Meyssonnier; M Migliore; J Milewski; J F Millet; S Mingam; P Nazeyrollas; F Paganelli; F Pellerin; F Petitjean; A Pinzani; A Pladys; P Primot; A Pucheu; A Rahali; P Ravoala; D Rousson; P Samama; M Sardon; R Silvestri; P Soskin; X Tabone; C Tricot; B Vaquette; M Vogel; M Weingrod; V Aboyans; R Amoretti; J Aubry; P Berthezene; D Binet; X Bonnaud; P Bonnet; A Bonny; T Bouchaya; C Boureux; J M Bourgeois; L Brottier; B Cavert; S Cleron; E Dechoux; C Delhomme; J P Detienne; J P Dubs; B Faudon; F Fellous; R Fressonnet; Y Garaud; 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European Heart Journal. 45:2396-2406
Academic Journal
Erdlenbruch, Friedrich; Thieme, Andreas; van Gaalen, Judith; Ganos, Christos; Kang, Jun-Suk; Grobe-Einsler, Marcus; Giordano, Ilaria; Beijer, Danique ; Mengel, David ; Önder, Demet ; Wilke, Carlo ; Traschütz, Andreas ; Faber, Jennifer ; Timmann, Dagmar ; Boesch, Sylvia ; Vielhaber, Stefan ; Klopstock, Thomas ; van de Warrenburg, Bart P. ; Silvestri, Gabriella ; Kamm, Christoph ; Wedding, Iselin Marie ; Fleszar, Zofia ; Harmuth, Florian ; Dufke, Claudia ; Brais, Bernard ; Rieß, Olaf ; Schöls, Ludger ; Haack, Tobias ; Züchner, Stephan ; Pellerin, David ; Klockgether, Thomas ; Synofzik, Matthis
In eBioMedicine May 2025 115
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Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hübsch, Tanja; Doss, Sarah; Van Velzen, Gijs A J; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Van de Warrenburg, Bart; Schöls, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra
The American journal of human genetics 110(7), 1098-1109 (2023). doi:10.1016/j.ajhg.2023.05.009
American Journal of Human Genetics, 110, 7, pp. 1098-1109
The American Journal of Human Genetics
American Journal of Human Genetics, 110, 7, pp. 1098-1109
The American Journal of Human Genetics
Academic Journal
Porcu, Luca; Fichera, Mario; Nanetti, Lorenzo; Rulli, Eliana; Giunti, Paola; Parkinson, Michael; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Indelicato, Elisabetta; Klopstock, Thomas; Stendel, Claudia; Rodríguez de Rivera, Francisco Javier; Schöls, Ludger; Fleszar, Zofia; Giordano, Ilaria; Didszun, Claire; Castaldo, Anna; Rai, Myriam; Klockgether, Thomas; Pandolfo, Massimo; Schulz, Jörg; Reetz, Kathrin; Mariotti, Caterina; Eigentler, Andreas; Amprosi, Matthias; Gellera, Cinzia; Mongelli, Alessia; Marchini, Gloria; Bertini, Enrico; Vasco, Gessica; Biet, Marie; Monin, Marie Lorraine; Holtbernd, Florian; Brcina, Nikolina; Dogan, Imis; Hohenfeld, Christian; Radelfahr, Florentine; Bischoff, Almut T.; Hayer, Stefanie; Koutsis, Georgios; Breza, Marianthi; Palau, Francesc; O’callaghan, Mar; Thomas-Black, Gilbert; Manso, Katarina; Solanky, Nita; Labrum, Robyn
Ann Clin Transl Neurol
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2000-2012 (2023)
Annals of Clinical and Translational Neurology 10(11), 2000-2012 (2023). doi:10.1002/acn3.51886
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2000-2012 (2023)
Annals of Clinical and Translational Neurology 10(11), 2000-2012 (2023). doi:10.1002/acn3.51886
Academic Journal
Timothy M. Eppley; Kim E. Reuter; Timothy M. Sefczek; Jen Tinsman; Luca Santini; Selwyn Hoeks; Seheno Andriantsaralaza; Sam Shanee; Anthony Di Fiore; Joanna M. Setchell; Karen B. Strier; Peter A. Abanyam; Aini Hasanah Abd Mutalib; Ekwoge Abwe; Tanvir Ahmed; Marc Ancrenaz; Raphali R. Andriantsimanarilafy; Andie Ang; Filippo Aureli; Louise Barrett; Jacinta C. Beehner; Marcela E. Benítez; Bruna M. Bezerra; Júlio César Bicca‐Marques; Dominique Bikaba; Robert Bitariho; Christophe Boesch; Laura M. Bolt; Ramesh Boonratana; Thomas M. Butynski; Gustavo R. Canale; Susana Carvalho; Colin A. Chapman; Dilip Chetry; Susan M. Cheyne; Marina Cords; Fanny M. Cornejo; Liliana Cortés‐Ortiz; Camille N. Z. Coudrat; Margaret C. Crofoot; Drew T. Cronin; Alvine Dadjo; S. Chrystelle Dakpogan; Emmanuel Danquah; Tim R. B. Davenport; Yvonne A. de Jong; Stella de la Torre; Andrea Dempsey; Judeline C. Dimalibot; Rainer Dolch; Giuseppe Donati; Alejandro Estrada; Rassina A. Farassi; Peter J. Fashing; Eduardo Fernandez‐Duque; Maria J. Ferreira da Silva; Julia Fischer; César F. Flores‐Negrón; Barbara Fruth; Terence Fuh Neba; Lief Erikson Gamalo; Jörg U. Ganzhorn; Paul A. Garber; Smitha D. Gnanaolivu; Mary Katherine Gonder; Sery Ernest Gonedelé Bi; Benoit Goossens; Marcelo Gordo; Juan M. Guayasamin; Diana C. Guzmán‐Caro; Andrew R. Halloran; Jessica A. Hartel; Eckhard W. Heymann; Russell A. Hill; Kimberley J. Hockings; Gottfried Hohmann; Naven Hon; Mariano G. Houngbédji; Michael A. Huffman; Rachel A. Ikemeh; Inaoyom Imong; Mitchell T. Irwin; Patrícia Izar; Leandro Jerusalinsky; Gladys Kalema‐Zikusoka; Beth A. Kaplin; Peter M. Kappeler; Stanislaus M. Kivai; Cheryl D. Knott; Intanon Kolasartsanee; Kathelijne Koops; Martin M. Kowalewski; Deo Kujirakwinja; Ajith Kumar; Quyet K. Le; Rebecca J. Lewis; Aung Ko Lin; Andrés Link; Luz I. Loría; Menladi M. Lormie; Edward E. Louis; Ngwe Lwin; Fiona Maisels; Suchinda Malaivijitnond; Lesley Marisa; Gráinne M. McCabe; W. Scott McGraw; Addisu Mekonnen; Pedro G. Méndez‐Carvajal; Tânia Minhós; David M. Montgomery; Citlalli Morelos‐Juárez; Bethan J. Morgan; David Morgan; Amancio Motove Etingüe; Papa Ibnou Ndiaye; K. Anne‐Isola Nekaris; Nga Nguyen; Vincent Nijman; Radar Nishuli; Marilyn A. Norconk; Luciana I. Oklander; Rahayu Oktaviani; Julia Ostner; Emily Otali; Susan E. Perry; Eduardo J. Pinel Ramos; Leila M. Porter; Jill D. Pruetz; Anne E. Pusey; Helder L. Queiroz; Mónica A. Ramírez; Guy Hermas Randriatahina; Hoby Rasoanaivo; Jonah Ratsimbazafy; Joelisoa Ratsirarson; Josia Razafindramanana; Onja H. Razafindratsima; Vernon Reynolds; Rizaldi Rizaldi; Martha M. Robbins; Melissa E. Rodríguez; Marleny Rosales‐Meda; Crickette M. Sanz; Dipto Sarkar; Anne Savage; Amy L. Schreier; Oliver Schülke; Gabriel H. Segniagbeto; Juan Carlos Serio‐Silva; Arif Setiawan; John Seyjagat; Felipe E. Silva; Elizabeth M. Sinclair; Rebecca L. Smith; Denise Spaan; Fiona A. Stewart; Shirley C. Strum; Martin Surbeck; Magdalena S. Svensson; Mauricio Talebi; Luc Roscelin Tédonzong; Bernardo Urbani; João Valsecchi; Natalie Vasey; Erin R. Vogel; Robert B. Wallace; Janette Wallis; Siân Waters; Roman M. Wittig; Richard W. Wrangham; Patricia C. Wright; Russell A. Mittermeier
Conservation Letters, Vol 17, Iss 2, Pp n/a-n/a (2024)
Conservation Letters, 17, 2, pp. 1-15
Conservation Letters, 17, 2, pp. 1-15
Academic Journal
Amprosi, Matthias; Zech, Michael; Steiger, Ruth; Nachbauer, Wolfgang; Eigentler, Andreas; Gizewski, Elke R.; Guger, Michael; Indelicato, Elisabetta; Boesch, Sylvia
Academic Journal
Eppley, T.; Reuter, K.; Sefczek, T.; Tinsman, J.; Santini, L.; Hoeks, S.; Andriantsaralaza, S.; Shanee, S.; Fiore, A.; Setchell, J.; Strier, K.; Abanyam, P.; Mutalib, A.; Abwe, E.; Ahmed, T.; Ancrenaz, M.; Andriantsimanarilafy, R.; Ang, A.; Aureli, F.; Barrett, L.; Beehner, J.; Benítez, M.; Bezerra, B.; Bicca-Marques, J.; Bikaba, D.; Bitariho, R.; Boesch, C.; https://orcid.org/0000-0001-9538-7858; Bolt, L.; Boonratana, R.; Butynski, T.; Canale, G.; Carvalho, S.; Chapman, C.; Chetry, D.; Cheyne, S.; Cords, M.; Cornejo, F.; Cortés-Ortiz, L.; Coudrat, C.; Crofoot, M.; Cronin, D.; Dadjo, A.; Dakpogan, S.; Danquah, E.; Davenport, T.; de Jong; A., Y.; de la Torre, S.; Dempsey, A.; Dimalibot, J.; Dolch, R.; Donati, G.; Estrada, A.; Farassi, R.; Fashing, P.; Fernandez-Duque, E.; da Silva; Ferreira, M.; Fischer, J.; Flores-Negrón, C.; Fruth, B.; Neba, T.; Gamalo, L.; Ganzhorn, J.; Garber, P.; Gnanaolivu, S.; Gonder, M.; Bi, S.; Goossens, B.; Gordo, M.; Guayasamin, J.; Guzmán-Caro, D.; Halloran, A.; Hartel, J.; Heymann, E.; Hill, R.; Hockings, K.; Hohmann, G.; https://orcid.org/0000-0002-4923-6095; Hon, N.; Houngbédji, M.; Huffman, M.; Ikemeh, R.; Imong, I.; Irwin, M.; Izar, P.; Jerusalinsky, L.; Kalema-Zikusoka, G.; Kaplin, B.; Kappeler, P.; Kivai, S.; Knott, C.; Kolasartsanee, I.; Koops, K.; Kowalewski, M.; Kujirakwinja, D.; Kumar, A.; Le, Q.; Lewis, R.; Lin, A.; Link, A.; Loría, L.; Lormie, M.; Jr., L.; E., E.; Lwin, N.; Maisels, F.; Malaivijitnond, S.; Marisa, L.; McCabe, G.; McGraw, W.; Mekonnen, A.; Méndez-Carvajal, P.; Minhós, T.; Montgomery, D.; Morelos-Juárez, C.; Morgan, B.; Morgan, D.; Etingüe, A.; Ndiaye, P.; Nekaris, K.; Nguyen, N.; Nijman, V.; Nishuli, R.; Norconk, M.; Oklander, L.; Oktaviani, R.; Ostner, J.; Otali, E.; Perry, S.; Ramos, E.; Porter, L.; Pruetz, J.; Pusey, A.; Queiroz, H.; Ramírez, M.; Randriatahina, G.; Rasoanaivo, H.; Ratsimbazafy, J.; Ratsirarson, J.; Razafindramanana, J.; Razafindratsima, O.; Reynolds, V.; Rizaldi, R.; Robbins, M.; https://orcid.org/0000-0002-6037-7542; Rodríguez, M.; Rosales-Meda, M.; Sanz, C.; Sarkar, D.; Savage, A.; Schreier, A.; Schülke, O.; Segniagbeto, G.; Serio-Silva, J.; Setiawan, A.; Seyjagat, J.; Silva, F.; Sinclair, E.; Smith, R.; Spaan, D.; Stewart, F.; Strum, S.; Surbeck, M.; https://orcid.org/0000-0003-2910-2927; Svensson, M.; Talebi, M.; Tédonzong, L.; Urbani, B.; Valsecchi, J.; Vasey, N.; Vogel, E.; Wallace, R.; Wallis, J.; Waters, S.; Wittig, R.; Wrangham, R.; Wright, P.; Mittermeier, R.
Conservation Letters
Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
Academic Journal
Zech, Michael; Kumar, Kishore; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa; Drew, Alexander; Adam, Robert; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng; Kruer, Michael; Bardakjian, Tanya; Gonzalez‐alegre, Pedro; Keller Sarmiento, Ignacio; Mencacci, Niccolo; Lubbe, Steven; Kurian, Manju; Clot, Fabienne; Méneret, Aurélie; Sainte Agathe, Jean‐madeleine; Fung, Victor; Vidailhet, Marie; Baumann, Matthias; Marquardt, Thorsten; Winkelmann, Juliane; Boesch, Sylvia
Mov. Disord., DOI: 10.1002/mds.28804 (2021)
Academic Journal
Dzinovic, Ivana; Škorvánek, Matej; Necpál, Ján; Boesch, Sylvia; Švantnerová, Jana; Wagner, Matias; Havránková, Petra; Pavelekova, Petra; Haň, Vladimír; Janzarik, Wibke; Berweck, Steffen; Diebold, Isabel; Kuster, Alice; Jech, Robert; Winkelmann, Juliane; Zech, Michael
Parkinsonism Relat. Disord. 90, 73-78 (2021)
Academic Journal
Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Švantnerová, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranová, Tereza; Rektorová, Irena; Havránková, Petra; Mosejová, Alexandra; Příhodová, Iva; Šarláková, Jana; Kulcsarová, Kristína; Ulmanová, Olga; Bechyně, Karel; Ostrozovičová, Miriam; Haň, Vladimír; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne; Kuster, Alice; Baumann, Matthias; Weise, David; Wilbert, Friederike; Janzarik, Wibke; Eckenweiler, Matthias; Mall, Volker; Haslinger, Bernhard; Berweck, Steffen; Winkelmann, Juliane; Oexle, Konrad
Mov. Disord. 36, 959-1964 (2021)
Academic Journal
Labrum, Robyn; Thomas-Black, Gilbert; Manso, Katarina; Solanky, Nita; Gellera, Cinzia; Mongelli, Alessia; Castaldo, Anna; Fichera, Mario; Palau, Francesc; O'Callaghan, Mar; Biet, Marie; Monin, Marie Lorraine; Eigentler, Andreas; Indelicato, Elisabetta; Amprosi, Matthias; Radelfahr, Florentine; Bischoff, Almut T.; Holtbernd, Florian; Brcina, Nikolina; Hohenfeld, Christian; Koutsis, Georgios; Breza, Marianthi; Bertini, Enrico; Vasco, Gessica; Reetz, Kathrin ; Dogan, Imis ; Hilgers, Ralf-Dieter ; Giunti, Paola ; Parkinson, Michael H ; Mariotti, Caterina ; Nanetti, Lorenzo ; Durr, Alexandra ; Ewenczyk, Claire ; Boesch, Sylvia ; Nachbauer, Wolfgang ; Klopstock, Thomas ; Stendel, Claudia ; Rodríguez de Rivera Garrido, Francisco Javier ; Rummey, Christian ; Schöls, Ludger ; Hayer, Stefanie N ; Klockgether, Thomas ; Giordano, Ilaria ; Didszun, Claire ; Rai, Myriam ; Pandolfo, Massimo ; Schulz, Jörg B
In The Lancet Neurology May 2021 20(5):362-372
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Stephanie Efthymiou; Vincenzo Salpietro; Nancy Malintan; Mallory Poncelet; Yamna Kriouile; Sara Fortuna; Rita De Zorzi; Katelyn Payne; Lindsay B Henderson; Andrea Cortese; Sateesh Maddirevula; Nadia Alhashmi; Sarah Wiethoff; Mina Ryten; Juan A Botia; Vincenzo Provitera; Markus Schuelke; Jana Vandrovcova; Stanislav Groppa; Blagovesta Marinova Karashova; Wolfgang Nachbauer; Sylvia Boesch; Larissa Arning; Dagmar Timmann; Bru Cormand; Belen Pérez-Dueñas; Jatinder S Goraya; Tipu Sultan; Jun Mine; Daniela Avdjieva; Hadil Kathom; Radka Tincheva; Selina Banu; Mercedes Pineda-Marfa; Pierangelo Veggiotti; Michel D Ferrari; Arn M J M van den Maagdenberg; Alberto Verrotti; Giangluigi Marseglia; Salvatore Savasta; Mayte García-Silva; Alfons Macaya Ruiz; Barbara Garavaglia; Eugenia Borgione; Simona Portaro; Benigno Monteagudo Sanchez; Richard Boles; Savvas Papacostas; Michail Vikelis; James Rothman; Dimitri Kullmann; Eleni Zamba Papanicolaou; Efthymios Dardiotis; Shazia Maqbool; Shahnaz Ibrahim; Salman Kirmani; Nuzhat Noureen Rana; Osama Atawneh; Shen-Yang Lim; Farooq Shaikh; George Koutsis; Marianthi Breza; Salvatore Mangano; Carmela Scuderi; Giovanna Morello; Tanya Stojkovic; Massimo Zollo; Gali Heimer; Yves A Dauvilliers; Carlo Minetti; Issam Al-Khawaja; Fuad Al-Mutairi; Sherifa Hamed; Menelaos Pipis; Conceicao Bettencourt; Simon Rinaldi; Laurence Walsh; Erin Torti; Valeria Iodice; Maryam Najafi; Ehsan Ghayoor Karimiani; Reza Maroofian; Karine Siquier-Pernet; Nathalie Boddaert; Pascale De Lonlay; Vincent Cantagrel; Mhammed Aguennouz; Mohamed El Khorassani; Miriam Schmidts; Fowzan S Alkuraya; Simon Edvardson; Maria Nolano; Jérôme Devaux; Henry Houlden
Brain
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De Nittis P.; Efthymiou S.; Sarre A.; Guex N.; Chrast J.; Putoux A.; Sultan T.; Raza Alvi J.; Ur Rahman Z.; Zafar F.; Rana N.; Rahman F.; Anwar N.; Maqbool S.; Zaki M. S.; Gleeson J. G.; Murphy D.; Galehdari H.; Shariati G.; Mazaheri N.; Sedaghat A.; Lesca G.; Chatron N.; Salpietro V.; Christoforou M.; Houlden H.; Simonds W. F.; Pedrazzini T.; Maroofian R.; Reymond A.; SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa; Blagovesta Marinova Karashova; Wolfgang Nachbauer; Sylvia Boesch; Larissa Arning; Dagmar Timmann; Bru Cormand; Belen Pérez-Dueñas; Jatinder S Goraya; Tipu Sultan; Jun Mine; Daniela Avdjieva; Hadil Kathom; Radka Tincheva; Selina Banu; Mercedes Pineda-Marfa; Pierangelo Veggiotti; Michel D. Ferrari; Arn M. J. M. van den Maagdenberg; Alberto Verrotti; Giangluigi Marseglia; Salvatore Savasta; Mayte García-Silva; Alfons Macaya Ruiz; Barbara Garavaglia; Eugenia Borgione; Simona Portaro; Benigno Monteagudo Sanchez; Richard Boles; Savvas Papacostas; Michail Vikelis; Eleni Zamba Papanicolaou; Efthymios Dardiotis; Shazia Maqbool; Shahnaz Ibrahim; Salman Kirmani; Nuzhat Noureen Rana; Osama Atawneh; George Koutsis; Salvatore Mangano; Carmela Scuderi; Giovanna Morello; Tanya Stojkovic; Massimo Zollo; Gali Heimer; Yves A. Dauvilliers; Pasquale Striano; Issam Al-Khawaja; Fuad Al-Mutairi; Hamed Sherifa.
J Med Genet
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
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Journal of medical genetics, vol. 58, no. 12, pp. 815-831
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
instname
Journal of medical genetics, vol. 58, no. 12, pp. 815-831
Academic Journal
Wang, Yanan; Chiappetta, Giovanni; Guérois, Raphaël; Liu, Yijun; Romero, Stéphane; Boesch, Daniel; Krause, Matthias; Dessalles, Claire; Babataheri, Avin; Barakat, Abdul; Chen, Baoyu; Vinh, Joelle; Polesskaya, Anna; Gautreau, Alexis
Nat Commun
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Academic Journal
Roux T.; Barbier M.; Papin M.; Davoine C. -S.; Sayah S.; Coarelli G.; Charles P.; Marelli C.; Parodi L.; Tranchant C.; Goizet C.; Klebe S.; Lohmann E.; Van Maldergen L.; van Broeckhoven C.; Coutelier M.; Tesson C.; Stevanin G.; Duyckaerts C.; Brice A.; Durr A.; Darios F.; Forlani S.; Site P. -S.; Banneau G.; Cazeneuve C.; Fontaine B.; Azulay J. -P.; Boesfplug-Tanguy O.; Hannequin D.; Hazan J.; Burgo A.; Verny C.; Koenig M.; Labauge P.; N'guyen K.; Rodriguez D.; Belarbi S.; Hamri A.; Tazir M.; Boesch S.; Pandolfo M.; Laura J.; Guergueltcheva V.; Tournev I.; Pedraza Linares O. L.; Nielsen J. E.; Svenstrup K.; Zaki M.; Bauer P.; Schols L.; Schule R.; Lossos A.; Bassi M. -T.; Basso M.; Bertini E.; Brusco A.; Casali C.; Casari G.; Criscuolo C.; Filla A.; Orsi L.; Santorelli F. M.; Valente E. M.; Vavla M.; Vazza G.; Megarbane A.; Benomar A.; Kremer B.; Van Roon-Mom W.; Roxburgh R.; Erichsen A. K.; Tallaksen C.; Alonso I.; Coutinho P.; Loureiro J. L.; Sequeiros J.; Salih M.; Kostic V. S.; Rouco Axpe I.; Elsayed L.; Paucar M. A.; Roumani S.; Bing-Wen S.; Reid E.; Suran N.; Warner T.; Wood N.
Genetics in medicine
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