P. Gallano

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)

A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca 2+ ‐ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy

Laura Llansó, Gianina Ravenscroft, Cristina Aceituno, Antonio Gutiérrez et autres

es, au, us (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)

21580. SÍNDROME CANVAS: PRESENTACIÓN CLÍNICA Y EVOLUCIÓN EN UNA SERIE HOSPITALARIA

Jorge Juan Jiménez, Ramón Barat Baviera, Luís Bataller, P. Gallano et autres

Author response for "A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+‐ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy"

Laura Llansó, Gianina Ravenscroft, Cristina Aceituno, Antonio Gutiérrez et autres

A homozygous ATP2A2 variant alters sarcoendoplasmic reticulum Ca 2+ -ATPase 2 function in skeletal muscle and causes a novel vacuolar myopathy

Laura Llansó, Gianina Ravenscroft, Cristina Aceituno, Antonio Gutiérrez et autres

es, au (code pays fourni par la source)

Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1)

Esther Palones, Vicente Plaza, Lidia González‐Quereda, Alba Segarra‐Casas et autres

es (code pays fourni par la source)

Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS)

Esther Palones, Elena Curto, Vicente Plaza, Lidia González‐Quereda et autres

es (code pays fourni par la source)