Personas / Equipo Humano

Jordi Muchart López

Buscador de publicaciones

Publicaciones

  • Nolasco-Tovar GA, Roldan-Molina M, Jamshidi Y, Georvasilis I, Rodríguez RJ, Boostani R, Shoeibi A, Armengol L, Codina-Bergadà A, Karimiani EG, Hernando-Davalillo C, Martorell-Sampol L, Ramírez Almaraz ML, Muchart-Lopez J, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R, Natera-de Benito D and Serrano M.

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

    Annals of Clinical and Translational Neurology . : .

    [doi:10.1002/acn3.70206]

  • Slušná D, Muchart-Lopez J, Hinzen W and Canales-Rodríguez EJ.

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

    FRONTIERS IN HUMAN NEUROSCIENCE . 19: 1551868-1551868.

    [doi:10.3389/fnhum.2025.1551868]

  • Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.

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

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78005]

  • Marina Caballero Bellón, Santa-María López V, Marti-Sanchez L, Martorell-Sampol L, Salinas D, Hinojosa J, Becerra MV, Pavon-Mengual M, Morales-La Madrid A, Cruz-Martínez O, Muchart-Lopez J and Salvador-Hernandez H.

    Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease

    JOURNAL OF MEDICAL GENETICS . 62(6): 409-412.

    [doi:10.1136/jmg-2024-110477]

  • Julià-Palacios NA, Munoz-Pujol, Gerard, Maroofian, Reza, Bertoli-Avella, Aida M, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, Abraham J, O'Callaghan-Gordo M, Machado-Casas, Irene S, Cristian, Ingrid, Morrison, Jennifer, Garcia-Cazorla A, Codina-Bergadà A, 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, Uxia, Hoenicka J, Palau F, Houlden, Henry, Ortigoza-Escobar JD, Ribes, Antonia, Santos-Ocana, Carlos, Tyler, Millie, Gaffney, Patrick, Carroll, Christopher J, Tort, Frederic, Wierenga, Klaas J, Webb, Bryn D, Artuch-Iriberri R, Baide-Mairena, Heidy and Urreizti R.

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

    brain communications . 7(5): .

    [doi:10.1093/braincomms/fcaf348]

  • Hinojosa J, Becerra V, Candela-Cantó SA, Alamar AM, Culebras D, Valencia C, Carlos Valera Dávila, Rumiá J, Muchart-Lopez J and Aparicio J.

    Extra-temporal pediatric low-grade gliomas and epilepsy

    CHILDS NERVOUS SYSTEM . 40(10): 3309-3327. Nº de citas: 1

    [doi:10.1007/s00381-024-06573-8]

  • Candela-Cantó SA, Hinojosa J, Muchart-Lopez J, Jou-Munoz C, Palau, L, Carlos Valera Dávila, Flores, C, Palacio-Navarro A, Climent MA, Pascual, A, González, A, Culebras, D, Alamar AM, Becerra, V, Aparicio J and Rumiá, J.

    Temporo-Parieto-Occipital Disconnection by Robot-Assisted Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Refractory Epilepsy in a Pediatric Patient: Proof-of-Principle Case Report and Surgical Nuances

    WORLD NEUROSURGERY . 187: 124-132. Nº de citas: 2

    [doi:10.1016/j.wnEu.2024.04.064]

  • Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.

    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Nº de citas: 8

    [doi:10.1038/s41431-023-01526-2]

  • Hinojosa J, Candela-Cantó SA, Becerra V, Muchart-Lopez J, Gómez-Chiari M, Rumia J and Aparicio J.

    Multimodal Approach for the Treatment of Complex Hypothalamic Hamartomas.

    Advances and technical standards in neurosurgery . 50: 119-145.

    [doi:10.1007/978-3-031-53578-9_4]

  • Simao-Rafael M, Cruz-Martínez O, Pérez-Jaume S, Santa-María López V, Lavarino C, Salvador-Hernandez H, Muchart-Lopez J, Hinojosa J, Suñol M and Morales-La Madrid A.

    Use of bevacizumab in pediatric low-grade glioma: Ten-year experience in a single center

    EJC Paediatric Oncology . 2: 100115.

    [doi:10.1016/j.ejcped.2023.100115]