Raúl Juntas‐Morales

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

OBJECTIVE: Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next-generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis …

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Expanding the clinical phenotype and understanding the biochemical consequences of Muscle Glycogen Synthase Deficiency (GSD0B)

A. Llauradó, Tomàs Pinós, Marta Codina‐Solà, Elena Martínez‐Sáez et autres

es (code pays fourni par la source)

Efficacy and safety of low-dose IL-2 as an add-on therapy to riluzole (MIROCALS): a phase 2b, double-blind, randomised, placebo-controlled trial

Gilbert Bensimon, P. Nigel Leigh, Timothy Tree, Andrea Malaspina et autres

Background Amyotrophic lateral sclerosis (ALS) is a life-threatening disease characterised by progressive loss of motor neurons with few therapeutic options. The MIROCALS study tested the hypothesis that low-dose interleukin-2 (IL-2 LD ) improves survival and function in ALS. Methods In this randomised, …

fr, gb, gr, it, se (code pays fourni par la source)

AB-617. Retrospective neurophysiologic evaluation of our cohort of GBS and MFS patients. Value of early EMG recordings and patterns of involvement in different subtypes

Margarida Gratacòs-Viñola, José A. Seoane, Elena Lainez, Arnau Llauradó et autres

es (code pays fourni par la source)

Usefulness of serum neurofilament light chain in chronic inflammatory demyelinating polyradiculoneuropathy

Arnau Llauradó, Consuelo García-Carmona, Juan Luis Restrepo‐Vera, José Juan Alemán et autres

ps, es (code pays fourni par la source)

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons

Aurélien Perrin, Rocio García-Uzquiano, Tanya Stojkovic, Céline Tard et autres

Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype–phenotype associations in …

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PCR183 Diagnosis, Treatment, and the Burden of Disease for Duchenne Muscular Dystrophy (DMD) in Females: A Targeted Literature Review (TLR)

Raúl Juntas‐Morales, A. Ferlini, Florencia Giliberto, Igor Beitia Ortiz de Zárate et autres

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20624. CARACTERÍSTICAS CLÍNICAS, PATOLÓGICAS Y GENÉTICAS DE 27 PACIENTES CON TRASTORNOS CAUSADOS POR VARIANTES PATOGÉNICAS EN POLG

Laura Bermejo‐Guerrero, Julio Vera, P. Martín Jiménez, Alberto Blázquez et autres

532P Clinical, pathological, and genetic characteristics of 27 Spanish patients with POLG-related disorders

Laura Bermejo‐Guerrero, Juan Luis Restrepo‐Vera, Paloma Martín‐Jiménez, Alberto Blázquez et autres

Usefulness of somatosensory evoked potentials for monitoring the clinical course of patients with chronic inflammatory demyelinating polyradiculoneuropathy

Arnau Llauradó, Margarita Gratacós-Viñola, Daniel Sánchez‐Tejerina, María Salvadó et autres

INTRODUCTION/AIMS: Somatosensory evoked potentials (SSEPs) are described as a supportive tool to diagnose chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); however, there is a lack of studies determining the effectiveness of SSEPs in monitoring the clinical course of individuals with this condition. The aims …

es (code pays fourni par la source)

Pharmacometabolomics applied to low‐dose interleukin‐2 treatment in amyotrophic lateral sclerosis

Hugo Alarcan, Clément Bruno, Patrick Emond, Cédric Raoul et autres

Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The immunosuppressive functions of regulatory T lymphocytes (Tregs) are impaired in ALS, and correlate to disease progression. The phase 2a IMODALS trial reported an increase in Treg number in ALS patients following …

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Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial

Michael Benatar, Thomas Michael Hansen, Dror Rom, Marie Aavang Geist et autres

us, dk, fr, pl, nl, es, it, se, be, de, gb, ca, ch (code pays fourni par la source)