Alejandro Horga
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View article: Redefining therapeutics in vATTR: Evaluation of response predictors to tafamidis and patisiran treatment in a non-endemic area. A proposal for a novel individualised therapeutic approach
Redefining therapeutics in vATTR: Evaluation of response predictors to tafamidis and patisiran treatment in a non-endemic area. A proposal for a novel individualised therapeutic approach Open
View article: Long‐Term Follow Up in Anti‐Contactin‐1 Autoimmune Nodopathy
Long‐Term Follow Up in Anti‐Contactin‐1 Autoimmune Nodopathy Open
Objective To analyze long‐term clinical and biomarker features of anti‐contactin‐1 (CNTN1) autoimmune nodopathy (AN). Methods Patients with anti‐CNTN1 + autoimmune nodopathy detected in our laboratory from which clinical information was av…
View article: 21372. LA ENCEFALOPATÍA DE HASHIMOTO: UN MISTERIO SIN RESOLVER. A PROPÓSITO DE UN CASO
21372. LA ENCEFALOPATÍA DE HASHIMOTO: UN MISTERIO SIN RESOLVER. A PROPÓSITO DE UN CASO Open
View article: 21507. CEFALEA EN TRUENO CON FOCALIDAD NEUROLÓGICA: AMPLIANDO EL DIAGNÓSTICO DIFERENCIAL
21507. CEFALEA EN TRUENO CON FOCALIDAD NEUROLÓGICA: AMPLIANDO EL DIAGNÓSTICO DIFERENCIAL Open
View article: 20274. NODOPATÍA AUTOINMUNE ANTI-CONTACTIN-1: CARACTERÍSTICAS CLÍNICAS, BIOMARCADORES Y SEGUIMIENTO A LARGO PLAZO
20274. NODOPATÍA AUTOINMUNE ANTI-CONTACTIN-1: CARACTERÍSTICAS CLÍNICAS, BIOMARCADORES Y SEGUIMIENTO A LARGO PLAZO Open
View article: 21031. SÍNDROME DE FOSTER KENNEDY, A PROPÓSITO DE UN CASO
21031. SÍNDROME DE FOSTER KENNEDY, A PROPÓSITO DE UN CASO Open
View article: 21190. TERCER EPISODIO DE DEBILIDAD MUSCULAR ASOCIADA A HIPOCALEMIA GRAVE. PRESENTACIÓN DE LA PARÁLISIS PERIÓDICA TIROTÓXICA
21190. TERCER EPISODIO DE DEBILIDAD MUSCULAR ASOCIADA A HIPOCALEMIA GRAVE. PRESENTACIÓN DE LA PARÁLISIS PERIÓDICA TIROTÓXICA Open
View article: 21649. FÍSTULA ARTERIOVENOSA DURAL DIAGNOSTICADA EN LA GUARDIA: PRESENTACIÓN AGUDA DE UNA CAUSA INFRECUENTE DE MIELOPATÍA PROGRESIVA
21649. FÍSTULA ARTERIOVENOSA DURAL DIAGNOSTICADA EN LA GUARDIA: PRESENTACIÓN AGUDA DE UNA CAUSA INFRECUENTE DE MIELOPATÍA PROGRESIVA Open
View article: 21600. RENTABILIDAD DIAGNÓSTICA DEL ESTUDIO GENÉTICO EN LA HIPERCKEMIA ASINTOMÁTICA: ANÁLISIS DE UNA SERIE DE CASOS
21600. RENTABILIDAD DIAGNÓSTICA DEL ESTUDIO GENÉTICO EN LA HIPERCKEMIA ASINTOMÁTICA: ANÁLISIS DE UNA SERIE DE CASOS Open
View article: Long term follow-up in anti-contactin-1 autoimmune nodopathy
Long term follow-up in anti-contactin-1 autoimmune nodopathy Open
Objective To analyze long-term clinical and biomarker features of anti-contactin-1 (CNTN1) autoimmune nodopathy (AN). Methods Patients with anti-CNTN1+ AN detected in our laboratory from which clinical information was available were includ…
View article: <i>RTN2</i> deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
<i>RTN2</i> deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity Open
Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. Nevertheless, the definitive validity of SPG12 r…
View article: Expanding the Clinical Spectrum of <i>DRP2</i> -Associated Charcot-Marie-Tooth Disease
Expanding the Clinical Spectrum of <i>DRP2</i> -Associated Charcot-Marie-Tooth Disease Open
Our findings support the causality of DRP2 pathogenic germline variants in CMT and further define the phenotype as a late-onset sensory and motor length-dependent neuropathy, with intermediate velocities and thickening of proximal n…
View article: Factors associated with the severity of <scp>COVID</scp>‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular <scp>COVID</scp>‐19 Registry
Factors associated with the severity of <span>COVID</span>‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular <span>COVID</span>‐19 Registry Open
Background and purpose Clinical outcome information on patients with neuromuscular diseases (NMDs) who have been infected with SARS‐CoV‐2 is limited. The aim of this study was to determine factors associated with the severity of COVID‐19 o…
View article: Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement Open
View article: Post-COVID symptoms of potential peripheral nervous and muscular origin
Post-COVID symptoms of potential peripheral nervous and muscular origin Open
View article: Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes
Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes Open
View article: Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry
Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry Open
View article: Nivolumab: An “immune storm” in a patient with history of myasthenia gravis
Nivolumab: An “immune storm” in a patient with history of myasthenia gravis Open
View article: De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects Open
View article: Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA <sup>Gly</sup> ( <i>MT-TG</i> ) variant
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA <sup>Gly</sup> ( <i>MT-TG</i> ) variant Open
Most pathogenic mitochondrial DNA (mtDNA) variants occur in the 22 mtDNA-encoded tRNA (mt-tRNA) genes. However, despite more than 270 reported mt-tRNA gene mutations, only 5 reside within mt-tRNAGly (MT-TG).1 We report a rare MT-TG variant…
View article: Nivolumab: «Tormenta inmune» en paciente con miastenia gravis previa
Nivolumab: «Tormenta inmune» en paciente con miastenia gravis previa Open
View article: Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion Open
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebella…
View article: Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutations
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutations Open
We expand the clinical and molecular spectrum of MT-ATP6-related mitochondrial disorders to include leukodystrophy, renal disease, and myoclonic epilepsy with cerebellar ataxia. Truncating MT-ATP6 mutations may exhibit highly…
View article: Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair Open
View article: Analysis of the characteristics of some patients with hereditary transthyretin amyloidosis hATTR that do no stabilize after Patisiran treatment
Analysis of the characteristics of some patients with hereditary transthyretin amyloidosis hATTR that do no stabilize after Patisiran treatment Open
View article: Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy Open
A syndromic form of ADOAC (ADOAC+), in which axonal neuropathy may be a major feature, is described. OPA3 mutations should be included in the differential diagnosis of complex inherited PN, even in the absence of clinically apparent…
View article: IGHMBP2 mutation associated with organ-specific autonomic dysfunction
IGHMBP2 mutation associated with organ-specific autonomic dysfunction Open
View article: Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy Open
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in t…
View article: A <i>de novo</i> dominant mutation in <i>KIF1A</i> associated with axonal neuropathy, spasticity and autism spectrum disorder
A <i>de novo</i> dominant mutation in <i>KIF1A</i> associated with axonal neuropathy, spasticity and autism spectrum disorder Open
Mutations in the kinesin family member 1A ( KIF1A ) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutati…
View article: Génétique
Génétique Open