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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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Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the acERca las enfermedades raras project Hernandez-Rodriguez, Jose; Martinez-Valle, Fernando; Acebes, Xenia; Alerany, Carmen; Anton, Jordi; Calvo, Gonzalo; Corral, Marian; Cruz, Jordi; Mangues-Bafalluy, M. Antonia; Mateo, Jose; Rivera, Josefa; Salazar, Albert; Francisco, Roser; Mallol, Cristina; Reig-Viader, Rita; Tigri-Santina, Ariadna; Ricart, Assumpta; Palau, Francesc 分享 收藏
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
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies Brooks, Daniel; Burke, Elizabeth; Lee, Sukyeong; Eble, Tanya N.; O'Leary, Melanie; Osei-Owusu, Ikeoluwa; Rehm, Heidi L.; Dhar, Shweta U.; Emrick, Lisa; Bick, David; Nehrebecky, Michelle; Macnamara, Ellen; Casas-Alba, Didac; Armstrong, Judith; Prat, Carolina; Martinez-Monseny, Antonio F.; Palau, Francesc; Liu, Pengfei; Adams, David; Lalani, Seema; Rosenfeld, Jill A.; Burrage, Lindsay C. 分享 收藏
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment GEMIN5突变与辅酶Q10缺乏症相关: 治疗后的长期随访 Cascajo-Almenara, Marivi V.; Julia-Palacios, Natalia.; Urreizti, Roser; Sanchez-Cuesta, Ana; Fernandez-Ayala, Daniel M.; Garcia-Diaz, Elena; Oliva, Clara; O'Callaghan, Maria del Mar; Paredes-Fuentes, Abraham J.; Moreno-Lozano, Pedro J.; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I.; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R.; Rajan, Deepa S.; Navas, Placido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; Garcia-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocana, Carlos; Artuch, Rafael 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
Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response Leon, Marian; Prieto, Javier; Molina-Navarro, Maria Micaela; Garcia-Garcia, Francisco; Barneo-Munoz, Manuela; Ponsoda, Xavier; Saez, Rosana; Palau, Francesc; Dopazo, Joaquin; Belmonte, Juan Carlos Izpisua; Torres, Josema 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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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Artuch, Rafael; Gallano, Pia; Garrabou, Gloria; Gonzalez, Juan R.; Grinberg, Daniel; Guitart, Miriam; Laurie, Steven; Lazaro, Conxi; Luengo, Cristina; Marti, Ramon; Mila, Montserrat; Ovelleiro, David; Parra, Genis; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfons; Palau, Francesc; Ribes, Antonia; Perez-Jurado, Luis A.; Beltran, Sergi 分享 收藏
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