未登录 GDAP1 orchestrates redox signaling at membrane contact sites to preserve axonal integrity in Charcot-Marie-Tooth disease GDAP1在膜接触位点调控氧化还原信号以维持夏科-马里-图思病中的轴突完整性 Cantarero, Lara; Roldan, Monica; Rodriguez-Sanz, Maria; Mathison, Angela J.; Olivares-Fuentes, Montserrat; Diaz-Osorio, Yaiza; Pijuan, Jordi; Frias, Marcos; Urrutia, Raul; Hoenicka, Janet; Palau, Francesc 分享 收藏
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease Elesclomol-铜疗法改善了两位Menkes病患儿的神经发育。 Godoy-Molina, Elena; Serrano, Natalia L.; Jimenez-Gonzalez, Aquilina; Villaronga, Miquel; Perez-Bryan, Rosa M. Marques; Varela-Fernandez, Ruben; Lotz-Esquivel, Stephanie; Tunon, Alba Hevia; Trivedi, Prachi P.; Horn, Nina; Standing, Joseph F.; Mangas-Sanjuan, Victor; Capdevila, Merce; Mateos, Aurora; Broun, Denis; Lutsenko, Svetlana; Medina-Rivera, Ines; Artuch, Rafael; Jou, Cristina; Roldan, Monica; Arango-Sancho, Pedro; Saez-Villafane, Monica; Ortiz-de-Urbina, Juan J.; Pieras-Lopez, Angela; Duero, Marta; Farre, Rosa; Pijuan, Jordi; Hoenicka, Janet; Sacchettini, James C.; Petris, Michael J.; Gohil, Vishal M.; Palau, Francesc 分享 收藏
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Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (27 Sept, 10.1038/s41431-024-01699-4, 2024) Estevez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknarova, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yepez, Vicente A.; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmueller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Benito, Daniel Natera-de 分享 收藏
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases Estevez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknarova, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yepez, Vicente A.; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmueller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Natera-de Benito, Daniel 分享 收藏
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy Estevez-Arias, Berta; Matalonga, Leslie; Martorell, Loreto; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Yubero, Delia; Hoenicka, Janet; Jou, Cristina; Palau, Francesc; Beltran, Sergi; Lochmuller, Hanns; Topf, Ana; Nascimento, Andres; Natera-de Benito, Daniel 分享 收藏
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease 帕金森病多血统全基因组关联meta分析 Kim, Jonggeol Jeffrey; Vitale, Dan; Otani, Diego Veliz; Lian, Michelle Mulan; Heilbron, Karl; Aslibekyan, Stella; Auton, Adam; Babalola, Elizabeth; Bell, Robert K.; Bielenberg, Jessica; Bryc, Katarzyna; Bullis, Emily; Cannon, Paul; Coker, Daniella; Partida, Gabriel Cuellar; Dhamija, Devika; Das, Sayantan; Elson, Sarah L.; Eriksson, Nicholas; Filshtein, Teresa; Fitch, Alison; Fletez-Brant, Kipper; Fontanillas, Pierre; Freyman, Will; Granka, Julie M.; Hernandez, Alejandro; Hicks, Barry; Hinds, David A.; Jewett, Ethan M.; Jiang, Yunxuan; Kukar, Katelyn; Kwong, Alan; Lin, Keng-Han; Llamas, Bianca A.; Lowe, Maya; McCreight, Jey C.; McIntyre, Matthew H.; Micheletti, Steven J.; Moreno, Meghan E.; Nandakumar, Priyanka; Nguyen, Dominique T.; Noblin, Elizabeth S.; O'Connell, Jared; Petrakovitz, Aaron A.; Poznik, G. David; Reynoso, Alexandra; Schloetter, Madeleine; Schumacher, Morgan; Shastri, Anjali J.; Shelton, Janie F.; Shi, Jingchunzi; Shringarpure, Suyash; Su, Qiaojuan Jane; Tat, Susana A.; Tchakoute, Christophe Toukam; Tran, Vinh; Tung, Joyce Y.; Wang, Xin; Wang, Wei; Weldon, Catherine H.; Wilton, Peter; Wong, Corinna D.; Iwaki, Hirotaka; Lake, Julie; Solsberg, Caroline Warly; Leonard, Hampton; Makarious, Mary B.; Tan, Eng-King; Singleton, Andrew B.; Bandres-Ciga, Sara; Noyce, Alastair J.; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Renteria, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozc, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Illarionova, Anastasia; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Hoglinger, Gunter; Madoev, Harutyun; Trinh, Joanne; Junker, Johanna; Lohmann, Katja; Lange, Lara M.; Sharma, Manu; Groppa, Sergiu; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Divya, K. P.; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Avenali, Micol; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Krueger, Rejko; Tan, Ai Huey; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Perez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan O.; Pihlstrom, Lasse; Tan, Manuela; Ur-Rehman, Shoaib; Veliz-Otani, Diego; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Al Mubarak, Bashayer; Umair, Muhammad; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Perinan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Brolin, Kajsa; Zweier, Christiane; Tinkhauser, Gerd; Krack, Paul; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Yihru; Amouri, Rim; Ben Sassi, Samia; Basak, A. Nazl; Genc, Gencer; Cakmak, Ozguer Oztop; Ertan, Sibel; Martinez-Carrasco, Alejandro; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Stafford, Eleanor J.; Houlden, Henry; Morris, Huw R.; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaityte, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O'Grady, Alyssa; Sobering, Andrew K.; Siddiqi, Bernadette; Casey, Bradford; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Pantazis, Caroline B.; Comart, Charisse; Wegel, Claire; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Ibanez, Laura; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Koretsky, Mathew; Puckelwartz, Megan J.; Inca-Martinez, Miguel; Louie, Naomi; Mencacci, Niccolo Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Nguyen, Duan; Nguyen, Toan; Atadzhanov, Masharip; Blauwendraat, Cornelis; Nalls, Mike A.; Foo, Jia Nee; Mata, Ignacio 分享 收藏
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation 深部脑刺激治疗的新型AIFM1-Related疾病表型 Pijuan, Jordi; Sevrioukova, Irina F.; Garcia-Campos, Oscar; Hernaez, Mar; Gort, Laura; Gomez-Chiari, Marta; Jou, Cristina; Candela-Canto, Santiago; Rumia, Jordi; Artuch, Rafael; Palau, Francesc; Hoenicka, Janet; Ortigoza-Escobar, Juan Dario 分享 收藏
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy Nascimento, Andres; Bruels, Christine C.; Donkervoort, Sandra; Foley, A. Reghan; Codina, Anna; Milisenda, Jose C.; Estrella, Elicia A.; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A.; Pais, Lynn S.; Ganesh, Vijay S.; O'Donnell-Luria, Anne; Syeda, Safoora B.; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G. W.; Mammen, Andrew L.; Grau-Junyent, Josep M.; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S.; Darras, Basil T.; Jou, Cristina; Kunkel, Louis M.; Hoenicka, Janet; Bonnemann, Carsten G.; Kang, Peter B.; Natera-de Benito, Daniel 分享 收藏
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants Natera-de Benito, Daniel; Olival, Jonathan; Garcia-Cabau, Carla; Jou, Cristina; Roldan, Monica; Codina, Anna; Exposito-Escudero, Jessica; Batlle, Cristina; Carrera-Garcia, Laura; Ortez, Carlos; Salvatella, Xavier; Palau, Francesc; Nascimento, Andres; Hoenicka, Janet 分享 收藏
Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease (vol 11, 9879, 2021) 多巴胺能基因ANKK1的调控罕见变异作为帕金森氏病的潜在危险因素 (第11卷，9879，2021) Perez-Santamarina, Estela; Garcia-Ruiz, Pedro; Martinez-Rubio, Dolores; Ezquerra, Mario; Pla-Navarro, Irene; Puente, Jorge; Marti, Maria Jose; Palau, Francesc; Hoenicka, Janet 分享 收藏
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Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases Pijuan, Jordi; Cantarero, Lara; Natera-de Benito, Daniel; Altimir, Arola; Altisent-Huguet, Anna; Diaz-Osorio, Yaiza; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Ortez, Carlos; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc 分享 收藏
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease Nuevo-Tapioles, Cristina; Santacatterina, Fulvio; Sanchez-Garrido, Brenda; de Arenas, Cristina Nunez; Robledo-Bergamo, Adrian; Martinez-Valero, Paula; Cantarero, Lara; Pardo, Beatriz; Hoenicka, Janet; Murphy, Michael P.; Satrustegui, Jorgina; Palau, Francesc; Cuezva, Jose M. 分享 收藏
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype Natera-de Benito, Daniel; Sola, Abel; Rego Sousa, Paulo; Boronat, Susana; Exposito-Escudero, Jessica; Carrera-Garcia, Laura; Ortez, Carlos; Jou, Cristina; Muchart, Jordi; Rebollo, Monica; Armstrong, Judith; Colomer, Jaume; Garcia-Cazorla, Angels; Hoenicka, Janet; Palau, Francesc; Nascimento, Andres 分享 收藏
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