日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy

揭开GDAP1的神秘面纱:连接线粒体生物学与周围神经病变

Cantarero, Lara; Hoenicka, Janet; Palau, Francesc

Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease

艾司洛莫尔-铜疗法改善了两名患有门克斯病的儿童的神经发育。

Godoy-Molina, Elena; Serrano, Natalia L; Jiménez-González, Aquilina; Villaronga, Miquel; Marqués Pérez-Bryan, Rosa M; Varela-Fernández, Rubén; Lotz-Esquivel, Stephanie; Hevia Tuñón, Alba; Trivedi, Prachi P; Horn, Nina; Standing, Joseph F; Mangas-Sanjuan, Víctor; Capdevila, Mercè; Mateos, Aurora; Broun, Denis; Lutsenko, Svetlana; Medina-Rivera, Ines; Artuch, Rafael; Jou, Cristina; Roldán, Mònica; Arango-Sancho, Pedro; Saez-Villafañe, Mónica; Ortiz-de-Urbina, Juan J; Pieras-López, Angela; Duero, Marta; Farré, Rosa; Pijuan, Jordi; Hoenicka, Janet; Sacchettini, James C; Petris, Michael J; Gohil, Vishal M; Palau, Francesc

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease

DARS2基因双等位基因变异是轴突型夏科-马里-图斯病的新病因

Berta Estévez-Arias # ,Siiri Sarv # ,Nathalie Bonello-Palot ,Laura Carrera-García ,Carlos Ortez ,Jesica Expósito-Escudero ,Delia Yubero ,Jordi Muchart ,Emilien Delmont ,Eve Õiglane-Shlik ,Teele Meren ,Sanna Puusepp ,Ülle Murumets ,Gajja S Salomons ,Bjarne Udd ,Liis Väli ,Lara Cantarero ,Carsten G Bönnemann ,Andrés Nascimento ,Santiago Ramón-Maiques ,Katrin Õunap ,Janet Hoenicka # ,Daniel Natera-de Benito # ,Francesc Palau #

A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8A

帕金森病家族中发现的新型LRRK2变异会影响其与RAB8A的结合

Lydia Vela-Desojo ,Alba Pascual ,Victor Montal ,Carmen Guerrero ,Mireia Osuna-López ,Victor Guallar ,Francesc Palau # ,Janet Hoenicka #

Functional and molecular analyses reveal impaired HSPCs in Multiple Myeloma patients post-induction

功能和分子分析揭示,多发性骨髓瘤患者诱导治疗后造血干细胞功能受损。

Thanh Mai Baumhardt ,Amanda Amoah ,Markus Hoenicka ,Andreas Liebold ,Vadim Sakk ,Karin Soller ,Angelika Vollmer ,Miriam Kull ,Jan Kronke ,Jan-Philipp Mallm ,Hartmut Geiger ,Medhanie Mulaw

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes

携带溶酶体水解酶基因罕见变异的早发性帕金森病患者的溶酶体网络缺陷

Pascual, Alba; Moulka, Thaleia; de Fàbregues, Oriol; Repossi, Roberta; García-Ruiz, Pedro J; Ortolano, Saida; De Lucca, Marisel; Vela-Desojo, Lydia; Alves-Villar, Marta; Frías, Marcos; Feliz-Feliz, Cici; Roldán, Mònica; Olival, Jonathan; Fernàndez, Guerau; Palau, Francesc; Pijuan, Jordi; Hoenicka, Janet

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

表型驱动的基因组学可提高对未确诊神经肌肉疾病患儿的诊断水平

Estévez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-García, Laura; Expósito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknárová, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yépez, Vicente A; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmüller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Natera-de Benito, Daniel

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

SLC31A1相关发育性和癫痫性脑病的临床和分子特征:来自13个新病例的见解。

Juliá-Palacios Natalia, Muñoz-Pujol Gerard, Maroofian Reza, Bertoli-Avella Aida M, Gómez-Chiari Marta, Muchart-López Jordi, Paredes-Fuentes Abraham J, O'Callaghan Mar, Machado-Casas Irene S, Cristian Ingrid, Morrison Jennifer, Garcia-Cazorla Angels, Codina Anna, Miryounesi Mohammad, Zonic Emir, Bauer Peter, Cheema Huma, Anjum Muhammad Nadeem, Al-Sannaa Nouriya, Abd Elmaksoud Marwa, Ababneh Faroug, Alijanpour Sahar, Tonekaboni Seyed Hassan, Fayazi Afshin, Urbaniak Maria, Barba Uxía, Hoenicka Janet, Palau Francesc, Houlden Henry, Ortigoza-Escobar Juan Darío, Ribes Antonia, Santos-Ocaña Carlos, Tyler Millie, Gaffney Patrick, Carroll Christopher J, Tort Frederic, Wierenga Klaas J, Webb Bryn D, Artuch Rafael, Baide-Mairena Heidy, Urreizti Roser

Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells

造血干细胞和祖细胞中嵌合结构变异的细胞类型特异性后果

Grimes, Karen; Jeong, Hyobin; Amoah, Amanda; Xu, Nuo; Niemann, Julian; Raeder, Benjamin; Hasenfeld, Patrick; Stober, Catherine; Rausch, Tobias; Benito, Eva; Jann, Johann-Christoph; Nowak, Daniel; Emini, Ramiz; Hoenicka, Markus; Liebold, Andreas; Ho, Anthony; Shuai, Shimin; Geiger, Hartmut; Sanders, Ashley D; Korbel, Jan O

ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly

ANKK1 是一种 Wnt/PCP 支架蛋白,参与神经 F-肌动蛋白的组装

Domínguez-Berzosa, Laura; Cantarero, Lara; Rodríguez-Sanz, María; Tort, Gemma; Garrido, Elena; Troya-Balseca, Johanna; Sáez, María; Castro-Martínez, Xóchitl Helga; Fernandez-Lizarbe, Sara; Urquizu, Edurne; Calvo, Enrique; López, Juan Antonio; Palomo, Tomás; Palau, Francesc; Hoenicka, Janet