List of works - Alejandro Horga

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

scientific article published on 23 August 2017

Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.

scientific article

An observational study of the effectiveness and safety of natalizumab in the treatment of multiple sclerosis.

scientific article published in March 2011

Antiviral immune response in patients with multiple sclerosis and healthy siblings

scientific article published on 01 March 2010

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

scientific article published on 01 April 2019

Brainstem lesions in clinically isolated syndromes

scientific article

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

scientific article published on 01 February 2020

Cerebral venous thrombosis associated with repeated use of emergency contraception

scientific article published on 01 April 2007

Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis

scientific article published on 19 December 2011

Clinical features of CIS of the brainstem/cerebellum of the kind seen in MS.

scientific article published on 28 November 2009

Clinical impact of early brain atrophy in clinically isolated syndromes

scientific article published on 07 May 2013

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

scientific article

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

scientific article

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

scientific article published on 31 October 2019

Differential susceptibility to apoptosis of CD4+T cells expressing CCR5 and CXCR3 in patients with MS

scientific article published on 08 September 2009

Do multimodal evoked potentials add information to MRI in clinically isolated syndromes?

scientific article published on 7 December 2009

Early brain pseudoatrophy while on natalizumab therapy is due to white matter volume changes.

scientific article

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

scientific article published on 07 January 2020

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

scientific article

FTY720 (fingolimod) for relapsing multiple sclerosis.

scientific article published on May 2008

Fingolimod for relapsing multiple sclerosis: an update.

scientific article

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

scientific article published on 13 May 2017

Genetic association between polymorphisms in the BTG1 gene and multiple sclerosis

scientific article published on 09 June 2009

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

scientific article published on 29 August 2018

Measures in the first year of therapy predict the response to interferon β in MS

article

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant

scientific article published on 18 March 2020

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

scientific article published on 10 March 2017

Natalizumab for relapsing-remitting multiple sclerosis.

scientific article published on 28 December 2010

Natalizumab-related anaphylactoid reactions in MS patients are associated with HLA class II alleles.

scientific article

Nivolumab: An «Immune storm» in a patient with history of myasthenia gravis

scientific article published on 28 January 2020

Oxcarbazepine in the treatment of epilepsy. A review and update

scientific article published in January 2006

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

scientific article

Plasma exchange for acute attacks of CNS demyelination: Predictors of improvement at 6 months.

scientific article published in September 2009

Prevalence study of genetically defined skeletal muscle channelopathies in England ⬇️

scientific article published on March 20, 2013

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

scientific article published on 22 December 2016

Stroke after prolonged air travel associated with a pulmonary arteriovenous malformation

scientific article published on 16 March 2010

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article

Value of NMO-IgG determination at the time of presentation as CIS

scientific article published on 02 May 2012

[Acute disseminated encephalomyelitis: study of factors involved in a possible development towards multiple sclerosis]

scientific article published on 01 November 2008

List of works by Alejandro Horga

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.

An observational study of the effectiveness and safety of natalizumab in the treatment of multiple sclerosis.

Antiviral immune response in patients with multiple sclerosis and healthy siblings

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

Brainstem lesions in clinically isolated syndromes

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Cerebral venous thrombosis associated with repeated use of emergency contraception

Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis

Clinical features of CIS of the brainstem/cerebellum of the kind seen in MS.

Clinical impact of early brain atrophy in clinically isolated syndromes

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Differential susceptibility to apoptosis of CD4+T cells expressing CCR5 and CXCR3 in patients with MS

Do multimodal evoked potentials add information to MRI in clinically isolated syndromes?

Early brain pseudoatrophy while on natalizumab therapy is due to white matter volume changes.

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

FTY720 (fingolimod) for relapsing multiple sclerosis.

Fingolimod for relapsing multiple sclerosis: an update.

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

Genetic association between polymorphisms in the BTG1 gene and multiple sclerosis

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Measures in the first year of therapy predict the response to interferon β in MS

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Natalizumab for relapsing-remitting multiple sclerosis.

Natalizumab-related anaphylactoid reactions in MS patients are associated with HLA class II alleles.

Nivolumab: An «Immune storm» in a patient with history of myasthenia gravis

Oxcarbazepine in the treatment of epilepsy. A review and update

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

Plasma exchange for acute attacks of CNS demyelination: Predictors of improvement at 6 months.

Prevalence study of genetically defined skeletal muscle channelopathies in England ⬇️

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Stroke after prolonged air travel associated with a pulmonary arteriovenous malformation

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Value of NMO-IgG determination at the time of presentation as CIS

[Acute disseminated encephalomyelitis: study of factors involved in a possible development towards multiple sclerosis]