Lista de obras - Alejandro Horga - Dominio Público Uruguay

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Clinical impact of early brain atrophy in clinically isolated syndromes

artículo científico publicado en 2013

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

artículo científico publicado en 2017

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2014

FTY720 (fingolimod) for relapsing multiple sclerosis.

artículo científico publicado en 2008

Fingolimod for relapsing multiple sclerosis: an update.

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Genetic association between polymorphisms in the BTG1 gene and multiple sclerosis

artículo científico publicado en 2009

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2006

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Stroke after prolonged air travel associated with a pulmonary arteriovenous malformation

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

Lista de obras de 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.

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]