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Neuromuscular Disorders : NMD|September 18, 2012
Trunk muscle involvement in late-onset Pompe disease: study of thirty patientsAída Alejaldre, Jordi Díaz-Manera, Sabrina Ravaglia, et al.
Brain : a Journal of Neurology|October 27, 2015
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth diseaseTeresa Sevilla, Vincenzo Lupo, Dolores Martínez-Rubio, et al.
Skeletal Muscle|October 1, 2024
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro modelJavier Poyatos-García, Patricia Soblechero-Martín, Alessandro Liquori, et al.
European Journal of Neurology|November 5, 2020
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imagingNuria Muelas, Marina Frasquet, Fernando Más-Estellés, et al.
Journal of the Neurological Sciences|September 9, 2021
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutationsRaquel Baviera-Muñoz, Marina Campins-Romeu, Lidón Carretero-Vilarroig, et al.
Plos One|December 6, 2018
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline MyopathySarah Moreau-Le Lan, Elena Aller, Ines Calabria, et al.
European Journal of Neurology|January 8, 2026
Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor NeuropathiesMaría Payá, Sofía Portela, Rafael Sivera, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|May 28, 2019
Noninfectious Neurologic Complications after Allogeneic Hematopoietic Stem Cell TransplantationAitana Balaguer-Rosello, Luis Bataller, José Luis Piñana, et al.
Journal of Neurology|August 9, 2011
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndromeAmina Chaouch, Juliane S Müller, Velina Guergueltcheva, et al.
Movement Disorders Clinical Practice|June 19, 2023
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern SpainRaquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Nuria Muelas, et al.
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