Lidia González‐Quereda

Exploring Dystrophin Expression and Mutations in the DMD and Dystrophin-Glycoprotein Complex Genes as Prognostic Factors in Leiomyosarcomas

Juliana Salazar, Paula Cerdá, Alícia Artigas-Baleri, Ruth Orellana et autres

es (code pays fourni par la source)

490PA recurrent non-coding 3’UTR variant as a hidden second hit in 11 families with CAPN3-related limb girdle muscular dystrophy

Berta Estévez‐Arias, Alba Segarra‐Casas, Lucía Romo, K. Polavarapu et autres

es, us, ca, fr, be, gb (code pays fourni par la source)

345PAcquired lipid storage myopathy with MADD acylcarnitine profile secondary to sertraline treatment: an emerging disorder

L. Llansó Caldentey, A. Vesperinas, Judit García‐Villoria, Laura Gort et autres

es (code pays fourni par la source)

Expanding the clinical–radiological phenotype of SCA34 and its role in the differential diagnosis of the hot cross bun sign

Gonzalo Olmedo‐Saura, Pablo Iruzubieta, Sara Bernal, Lidia González‐Quereda et autres

es, ca (code pays fourni par la source)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella et autres

es, au (code pays fourni par la source)

Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy

Laura Llansó, David Reyes‐Leiva, Alba Segarra‐Casas, Tomás Xuclà‐Ferrarons et autres

es (code pays fourni par la source)

Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum

Jorge Alonso‐Pérez, O. Barrachina-Esteve, Lidia González‐Quereda, M.L. Viguera-Martinez et autres

es (code pays fourni par la source)

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic et autres

es, nl (code pays fourni par la source)

Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum

Jorge Alonso‐Pérez, O. Barrachina-Esteve, Lidia González‐Quereda, M.L. Viguera-Martinez et autres

es, gb (code pays fourni par la source)

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy

Pablo Iruzubieta, José Verdú-Díaz, Ana Töpf, Leonela Luce et autres

ca, es, gb, be, ch (code pays fourni par la source)

A founder variant in the RYR1 gene is associated with hyperCKemia , myalgia and muscle cramps

Alba Segarra‐Casas, Pablo Iruzubieta, Solange Kapetanovic, Aurelio Hernández‐Laín et autres

es, gb (code pays fourni par la source)

478P RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases

A. Segarra-Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, C. Ortez et autres