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

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

扩大遗传性痉挛性截瘫的范围:脑瘫模拟中的双等位基因 SPAST 变异。

Nolasco Gregorio A, Roldán Mònica, Jamshidi Yalda, Georvasilis Ioannis, Rodríguez Rocío Jadraque, Boostani Reza, Shoeibi Ali, Armengol Lluís, Codina Anna, Karimiani Ehsan Ghayoor, Hernando-Davalillo Cristina, Martorell Loreto, Ramírez Almaraz María Luisa, Muchart Jordi, Ortez Carlos, Nascimento Andrés, Urreizti Roser, Natera-de Benito Daniel, Serrano Mercedes

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 #

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

White matter microstructure of language pathways in non-verbal autism: insights from diffusion tensor imaging and myelin water imaging

非语言型自闭症患者语言通路白质微结构:来自扩散张量成像和髓鞘水成像的启示

Slušná, Dominika; Muchart-López, Jordi; Hinzen, Wolfram; Canales-Rodríguez, Erick J

Multidisciplinary management of intracranial migration of a fractured dental needle through the foramen ovale: a case report

经卵圆孔发生断裂牙科针颅内移位的多学科治疗:病例报告

Rubio-Palau, Josep; Escrigas-Cañameras, Ferran; Valls-Ontañon, Adaia; Malet-Contreras, Albert; Becerra-Castro, Maria Victoria; Muchart-López, Jordi; Hinojosa-Bernal, José

Novel biostimulant bacterial exopolysaccharides production via solid-state fermentation as a valorisation strategy for agri-food waste

利用固态发酵生产新型生物刺激剂细菌胞外多糖,作为农产品废弃物增值利用策略

Garcia-Muchart, Enric; Martínez-Avila, Oscar; Mejias, Laura; Gilles, Eline; Bluteau, Chloé; Lavergne, Lucie; Ponsá, Sergio

Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment

GEMIN5基因突变与辅酶Q10缺乏症相关:治疗后的长期随访

Cascajo-Almenara, Marivi V; Juliá-Palacios, Natalia; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M; García-Díaz, 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, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael

Cortical tau aggregation drives axonal degeneration in white matter fiber tracts in Alzheimer's disease

皮质tau蛋白聚集驱动阿尔茨海默病中白质纤维束的轴突变性

Turón-Viñas, Eulàlia; Pineda, Mercè; Cusí, Victòria; López-Laso, Eduardo; Del Pozo, Rebeca Losada; Gutiérrez-Solana, Luis González; Moreno, David Conejo; Sierra-Córcoles, Concha; Olabarrieta-Hoyos, Naiara; Madruga-Garrido, Marcos; Aguirre-Rodríguez, Javier; González-Álvarez, Verónica; O'Callaghan, Mar; Muchart, Jordi; Armstrong-Moron, Judith; Bender, Andrew R; Giriprakash, Pavithran Pattiam; Cordes, Dietmar; Zhuang, Xiaowei; Caldwell, Jessica ZK; Miller, Justin B; Pescoller, Julia; Dewenter, Anna; Steward, Anna; Dehsarvi, Amir; Wagner, Fabian; Gross, Mattes; Zhu, Zeyu; Ewers, Michael; Roemer, Sebastian Niclas; Brendel, Matthias; Franzmeier, Nicolai

Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function

GNAO1相关疾病的严重程度与G蛋白功能的变化相关

Domínguez-Carral, Jana; Ludlam, William Grant; Junyent Segarra, Mar; Fornaguera Marti, Montserrat; Balsells, Sol; Muchart, Jordi; Čokolić Petrović, Dunja; Espinoza, Iván; Ortigoza-Escobar, Juan Dario; Martemyanov, Kirill A

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Leigh 综合征是 PTCD3 缺陷的主要临床特征

Gerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, Cristina Jou, Olatz Ugarteburu, Laura Gort, Delia Yubero, Angels García-Cazorla, Mar O'Callaghan, Jaume Campistol, Jordi Muchart, Vicente A Yépez, Mirjana Gusic, Julien Gagneur, Holger Prokisch, Rafael Artuch, Antonia Ribes, Ros