Eloy Rivas
YOU?
Author Swipe
View article: Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort
Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort Open
Our findings redefine the exercise test and muscle imaging findings in HypoPP due to the p.R528H CACNA1S mutation, with a particular focus on asymptomatic carriers, who displayed the same alterations as those described in symptomatic patie…
View article: Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy Open
VCP-MSP muscle biopsies consistently show myopathic or mixed patterns with rimmed vacuoles and p62/VCP-positive inclusions, regardless of clinical phenotype, age, or progression. Some lack vacuoles, challenging diagnosis. Discrepancies bet…
View article: Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort
Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort Open
View article: 20843. MIOPATÍA VACUOLAR ASOCIADA A UN SÍNDROME MIASTÉNICO CONGÉNITO-GFPT1
20843. MIOPATÍA VACUOLAR ASOCIADA A UN SÍNDROME MIASTÉNICO CONGÉNITO-GFPT1 Open
View article: 21660. NEMALINAS EN UN CASO DE DERMATOMIOSITIS REFRACTARIA A TRATAMIENTO INMUNOSUPRESOR CRÓNICO COMO HALLAZGO INESPERADO
21660. NEMALINAS EN UN CASO DE DERMATOMIOSITIS REFRACTARIA A TRATAMIENTO INMUNOSUPRESOR CRÓNICO COMO HALLAZGO INESPERADO Open
View article: Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression Open
Late-onset Pompe disease (LOPD) is a rare genetic disorder caused by the deficiency of acid alpha-glucosidase leading to progressive cellular dysfunction owing to the accumulation of glycogen in the lysosome. The mechanism of relentless mu…
View article: A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia Open
Cytochrome-c oxidase (COX) is part of the mitochondrial complex IV (CIV). COX deficiency is usually associated with tRNA variants, and less frequently with variants in COX assembly factors. Mutations in COX subunits encoded by mitochondria…
View article: Sporadic fatal insomnia: a rapidly progressive phenotype resembling progressive supranuclear palsy
Sporadic fatal insomnia: a rapidly progressive phenotype resembling progressive supranuclear palsy Open
View article: Insomnio fatal esporádico: fenotipo PSP-like rápidamente progresivo
Insomnio fatal esporádico: fenotipo PSP-like rápidamente progresivo Open
View article: Inflammatory bowel disease induces pathological α‐synuclein aggregation in the human gut and brain
Inflammatory bowel disease induces pathological α‐synuclein aggregation in the human gut and brain Open
Aims According to Braak's hypothesis, it is plausible that Parkinson's disease (PD) originates in the enteric nervous system (ENS) and spreads to the brain through the vagus nerve. In this work, we studied whether inflammatory bowel diseas…
View article: Use of thromboelastometry-guided surgery in a pediatric patient with adrenal neuroblastoma complicated with disseminated intravascular coagulation.
Use of thromboelastometry-guided surgery in a pediatric patient with adrenal neuroblastoma complicated with disseminated intravascular coagulation. Open
Disseminated intravascular coagulation (DIC) is a rare oncological emergency. We report a pediatric neuroblastoma complicated with DIC which required thromboelastometry-guided surgery. A 6-year-old female diagnosed with intermediate risk a…
View article: Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome
Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome Open
Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and respiratory insufficiency. Biallelic variants in SELENON account for most…
View article: Study of the human hippocampal formation: a method for histological and magnetic resonance correlation in perinatal cases
Study of the human hippocampal formation: a method for histological and magnetic resonance correlation in perinatal cases Open
Little information is available on the magnetic resonance imaging (MRI) determination of the hippocampal formation (HF) during the perinatal period. However, this exploration is increasingly used, which requires defining visible HF landmar…
View article: Lessons learned from a sporadic FUSopathy in a young man: a case report
Lessons learned from a sporadic FUSopathy in a young man: a case report Open
View article: Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events Open
Background Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural …
View article: A <i>KLHL40</i> 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
A <i>KLHL40</i> 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism Open
Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder associated with variants in the kelch-like family member 40 gene ( KLHL40 ). Common features include fetal akinesia, fractures, contractures, dysphagia, respirat…
View article: Desmin Modulates Muscle Cell Adhesion and Migration
Desmin Modulates Muscle Cell Adhesion and Migration Open
Cellular adhesion and migration are key functions that are disrupted in numerous diseases. We report that desmin, a type-III muscle-specific intermediate filament, is a novel cell adhesion regulator. Expression of p.R406W mutant desmin, id…
View article: INFLAMMATORY BOWEL DISEASE INDUCES α-SYNUCLEIN AGGREGATION IN GUT AND BRAIN
INFLAMMATORY BOWEL DISEASE INDUCES α-SYNUCLEIN AGGREGATION IN GUT AND BRAIN Open
According to Braak’s hypothesis, it is plausible that Parkinsońs disease (PD) starts in the enteric nervous system (ENS) to spread the brain via the vagus nerve. Thus, we were wondering whether human inflammatory bowel diseases (IBD) can p…
View article: Sex Hormone Receptor Expression in Craniopharyngiomas and Association with Tumor Aggressiveness Characteristics
Sex Hormone Receptor Expression in Craniopharyngiomas and Association with Tumor Aggressiveness Characteristics Open
Craniopharyngiomas (CPs) are rare tumors of the sellar and suprasellar regions of embryonic origin. The primary treatment for CPs is surgery but it is often unsuccessful. Although CPs are considered benign tumors, they display a relatively…
View article: Conus medullaris syndrome caused by intravascular large B cell lymphoma
Conus medullaris syndrome caused by intravascular large B cell lymphoma Open
View article: Neuropeptides in the developing human hippocampus under hypoxic–ischemic conditions
Neuropeptides in the developing human hippocampus under hypoxic–ischemic conditions Open
The perinatal period, sensitive for newborn survival, is also one of the most critical moments in human brain development. Perinatal hypoxia due to reduced blood supply to the brain (ischemia) is one of the main causes of neonatal mortalit…
View article: Author response for "Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy"
Author response for "Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy" Open
View article: Author response for "Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy"
Author response for "Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy" Open
View article: ETMR-22. TITLE: DEFINING THE CLINICAL AND PROGNOSTIC LANDSCAPE OF EMBRYONAL TUMORS WITH MULTI-LAYERED ROSETTES (ETMRs), A RARE BRAIN TUMOR REGISTRY (RBTC) STUDY
ETMR-22. TITLE: DEFINING THE CLINICAL AND PROGNOSTIC LANDSCAPE OF EMBRYONAL TUMORS WITH MULTI-LAYERED ROSETTES (ETMRs), A RARE BRAIN TUMOR REGISTRY (RBTC) STUDY Open
ETMR, an aggressive disease characterised by C19MC alterations, were previously categorised as various histologic diagnoses. The clinical spectrum and impact of conventional multi-modal therapy on this new WHO diagnostic category remains p…
View article: Identification of VRK1 as a New Neuroblastoma Tumor Progression Marker Regulating Cell Proliferation
Identification of VRK1 as a New Neuroblastoma Tumor Progression Marker Regulating Cell Proliferation Open
Neuroblastoma (NB) is one of the most common pediatric cancers and presents a poor survival rate in affected children. Current pretreatment risk assessment relies on a few known molecular parameters, like the amplification of the oncogene …
View article: Clinical phenotypes and prognostic features of ETMRs (Embryonal Tumor with Multi-layered Rosettes) a new CNS tumor entity: A Rare Brain Tumor Registry study
Clinical phenotypes and prognostic features of ETMRs (Embryonal Tumor with Multi-layered Rosettes) a new CNS tumor entity: A Rare Brain Tumor Registry study Open
Background ETMRs are a newly recognized rare paediatric brain tumor with alterations of the C19MC microRNA locus. Due to varied diagnostic practices and limited clinical data, disease features and determinants of outcome are poorly defined…
View article: A novel dominant mutation in <i>CRYAB</i> gene leading to a severe phenotype with childhood onset
A novel dominant mutation in <i>CRYAB</i> gene leading to a severe phenotype with childhood onset Open
Background αB‐crystallin is a promiscuous protein involved in numerous cell functions. Mutations in CRYAB have been found in patients with different pathological phenotypes that are not properly understood. Patients can present different d…
View article: Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice
Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice Open
View article: POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern Open
View article: NOVEL intronic <i>CAPN3</i> Roma mutation alters splicing causing RNA mediated decay
NOVEL intronic <i>CAPN3</i> Roma mutation alters splicing causing RNA mediated decay Open
CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of …