Fisiología molecular de la sinapsis

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

HeterozygousCAPN3missense variants causing autosomal-dominant calpainopathy in seven unrelated families

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

Editorial on the Special Issue on SNARE Proteins: A Long Journey of Science in Brain Health and Disease.

Identification of serum microRNAs as potential biomarkers in Pompe disease.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.

PDGF-BB serum levels are decreased in adult onset Pompe patients.

State-Dependent Subnetworks of Parvalbumin-Expressing Interneurons in Neocortex.

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing.

CUGC for Duchenne muscular dystrophy (DMD).

Clinical Utility Gene Card for: Becker muscular dystrophy.

Clinical Utility Gene Card for: autosomal dominant myotoniacongenita (Thomsen Disease).

Clinical utility gene card for McArdle disease.

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release

Report by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders.

Substantia nigra dopaminergic neurons and striatal interneurons are engaged in three parallel but interdependent postnatal neurotrophic circuits

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.

An inhibitory pull-push circuit in frontal cortex.

Cystinosis distal myopathy, novel clinical, pathological and genetic features

Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).

Rules of tissue packing involving different cell types: human muscle organization.

Toward the Inner Nanostructure of a Secretory Vesicle