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Journal of Medical Genetics|March 13, 2020
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegiaClaudia Rodríguez-López, Luis M García-Cárdaba, Alberto Blázquez, et al.
Neuromuscular Disorders : NMD|July 30, 2022
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational studyCristina Domínguez-González, Ana Hernández-Voth, Carlos Pablo de Fuenmayor-Fernández de la Hoz, et al.
Molecular Neurobiology|November 1, 2016
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal TitinopathyAnni Evilä, Johanna Palmio, Anna Vihola, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|November 7, 2016
Infections of the Central Nervous System after Unrelated Donor Umbilical Cord Blood Transplantation or Human Leukocyte Antigen-Matched Sibling TransplantationAitana Balaguer Rosello, Luis Bataller, Ignacio Lorenzo, et al.
Journal of Clinical Medicine|January 11, 2022
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK MutationsLaura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Pablo Serrano-Lorenzo, et al.
European Journal of Neurology|June 30, 2021
Charcot-Marie-Tooth disease due to MORC2 mutations in SpainRafael Sivera, Vincenzo Lupo, Marina Frasquet, et al.
European Journal of Neurology|July 25, 2022
Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' studyJuan F Vázquez-Costa, Mónica Povedano, Andrés E Nascimiento-Osorio, et al.
European Journal of Neurology|September 1, 2022
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophyJuan F Vázquez-Costa, Mónica Povedano, Andrés E Nascimiento-Osorio, et al.
Neuropathology and Applied Neurobiology|March 28, 2022
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathyHerminia Argente-Escrig, Juan J Vílchez, Marina Frasquet, et al.
Neurology. Genetics|December 19, 2022
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern SpainRaquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, et al.
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