Lista de obras - Pablo Mir - Dominio Público Uruguay

A replication study of GWAS-genetic risk variants associated with Parkinson's disease in a Spanish population

scientific article published on 17 August 2019

Aberrant cortical associative plasticity associated with severe adult Tourette syndrome

artículo científico publicado en 2015

Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation.

artículo científico publicado en 2012

Abnormal cerebellar connectivity and plasticity in isolated cervical dystonia

artículo científico publicado en 2019

Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia

artículo científico publicado en 2004

Abnormal sensorimotor integration correlates with cognitive profile in vascular parkinsonism

artículo científico publicado en 2017

Abnormal sensorimotor plasticity in CADASIL correlates with neuropsychological impairment

artículo científico publicado en 2013

Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers

artículo científico publicado en 2006

Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.

artículo científico publicado en 2013

Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene

article

Advanced Parkinson's disease: clinical characteristics and treatment (part 1)

artículo científico publicado en 2013

Advanced Parkinson's disease: clinical characteristics and treatment. Part II.

artículo científico

Alteration of central motor excitability in a patient with hemimasticatory spasm after treatment with botulinum toxin injections

Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain.

artículo científico publicado en 2013

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Atypical movement disorders in antiphospholipid syndrome

artículo científico publicado en 2006

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

artículo científico publicado en 2009

BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis

artículo científico publicado en 2014

Brain-derived neurotrophic factor G196A polymorphism and clinical features in Parkinson's disease

artículo científico publicado en 2010

Carotid body autotransplantation in Parkinson disease: a clinical and positron emission tomography study.

artículo científico publicado en 2007

Cerebellar magnetic stimulation decreases levodopa-induced dyskinesias in Parkinson disease.

artículo científico publicado en 2009

Changes in intracortical circuits of the human motor cortex following theta burst stimulation of the lateral cerebellum

artículo científico publicado en 2008

Clinical features and 123I-FP-CIT SPECT imaging in drug-induced parkinsonism and Parkinson's disease

artículo científico publicado en 2009

Clinical features and 123I-FP-CIT SPECT imaging in vascular parkinsonism and Parkinson's disease.

artículo científico publicado en 2012

Clinical features and neuropsychological profile in vascular parkinsonism

artículo científico publicado en 2014

Cluster headache with aura.

artículo científico publicado en 2002

Common variation in the LRRK2 gene is a risk factor for Parkinson's disease

artículo científico publicado en 2012

Consensus on the Definition of Advanced Parkinson's Disease: A Neurologists-Based Delphi Study (CEPA Study).

artículo científico publicado en 2017

DYT-1 gene dystonic tremor presenting as a "scan without evidence of dopaminergic deficit".

artículo científico publicado en 2012

Diagnostic agreement in patients with psychogenic movement disorders

artículo científico publicado en 2012

Distinguishing SWEDDs patients with asymmetric resting tremor from Parkinson's disease: a clinical and electrophysiological study

artículo científico publicado en 2010

Dopaminergic drugs restore facilitatory premotor-motor interactions in Parkinson disease

artículo científico publicado en 2005

Effects of two weeks of cerebellar theta burst stimulation in cervical dystonia patients

artículo científico publicado en 2014

Efficacy of levodopa/carbidopa/entacapone versus levodopa/carbidopa in patients with early Parkinson's disease experiencing mild wearing-off: a randomised, double-blind trial

artículo científico publicado en 2013

Enhanced Motivational Modulation of Motor Behaviour with Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease

artículo científico publicado en 2019

Functional neuroimaging in the diagnosis of patients with Parkinsonism: Update and recommendations for clinical use

artículo científico publicado en 2014

GDNF gene is associated with tourette syndrome in a family study

artículo científico publicado en 2015

Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.

artículo científico publicado en 2013

Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

artículo científico publicado en 2013

Glucose-6-phosphate dehydrogenase activity in Parkinson's disease

artículo científico publicado en 2008

Impaired motor cortical plasticity associated with cannabis use disorder in young adults

artículo científico publicado en 2020

Integrating genetic and clinical data to predict impulse control disorders in Parkinson's disease

scientific article published on 13 October 2020

Intermediate alleles at the FRAXA and FRAXE loci in Parkinson's disease.

artículo científico publicado en 2011

International study on the psychometric attributes of the non-motor symptoms scale in Parkinson disease

artículo científico publicado en 2009

Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.

artículo científico publicado en 2017

Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients

article

Lack of validation of variants associated with cervical dystonia risk: a GWAS replication study.

artículo científico publicado en 2014

Long runs of homozygosity are associated with Alzheimer's disease

artículo científico publicado en 2021

Long-term levodopa/carbidopa intestinal gel in advanced Parkinson's disease.

artículo científico publicado en 2014

Low serum uric acid concentration in Parkinson's disease in southern Spain

artículo científico publicado en 2012

Machine learning models for the differential diagnosis of vascular parkinsonism and Parkinson's disease using [(123)I]FP-CIT SPECT.

artículo científico publicado en 2014

Mitochondrial DNA A4336G mutation in Alzheimer's and Parkinson's diseases

artículo científico publicado en 2002

Motivation and movement: the effect of monetary incentive on performance speed

artículo científico publicado en 2011

Motivational modulation of bradykinesia in Parkinson's disease off and on dopaminergic medication

artículo científico publicado en 2014

Motor system inhibition in dopa-responsive dystonia and its modulation by treatment

artículo científico publicado en 2006

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review

artículo científico publicado en 2020

N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease

artículo científico publicado en 2017

Novel Lrrk2-p.S1761R mutation is not a common cause of Parkinson's disease in Spain.

artículo científico publicado en 2013

Olfaction in patients with suspected parkinsonism and scans without evidence of dopaminergic deficit (SWEDDs).

artículo científico publicado en 2009

On the long-term outcome of orthostatic tremor

artículo científico publicado en 2015

PSMC1Gene in Parkinson s Disease

artículo científico publicado en 2012

Parieto-motor cortical dysfunction in primary cervical dystonia

artículo científico publicado en 2014

Parieto-motor functional connectivity is impaired in Parkinson's disease.

artículo científico publicado en 2012

Paroxysmal dyskinesia with interictal myoclonus and dystonia: A report of two cases

Patients with adult-onset dystonic tremor resembling parkinsonian tremor have scans without evidence of dopaminergic deficit (SWEDDs).

artículo científico publicado en 2007

Polyneuropathy while on duodenal levodopa infusion in Parkinson's disease patients: we must be alert.

artículo científico publicado en 2012

Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement

artículo científico publicado en 2015

Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder

artículo científico publicado en 2016

Prevalence and clinical features of LRRK2 mutations in patients with Parkinson's disease in southern Spain

artículo científico publicado en 2009

Prophylactic treatment of episodic cluster headache with intravenous bolus of methylprednisolone

artículo científico publicado en 2003

Restless legs may be associated with the post-polio syndrome

artículo científico publicado en 2008

Secondary and primary dystonia: pathophysiological differences

artículo científico publicado en 2013

Secondary generalized dystonia without basal ganglia damage

artículo científico publicado en 2005

Sensory perception changes induced by transcranial magnetic stimulation over the primary somatosensory cortex in Parkinson's disease

artículo científico publicado en 2011

Short-afferent inhibition and cognitive impairment in Parkinson's disease: A quantitative review and challenges

artículo científico publicado en 2018

Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson's Disease

scientific article published on 12 October 2020

Statuslike SUNCT in two young women

artículo científico publicado en 2001

Study of cerebello-thalamocortical pathway by transcranial magnetic stimulation in Parkinson's disease.

artículo científico publicado en 2013

Support of the histaminergic hypothesis in Tourette syndrome: association of the histamine decarboxylase gene in a large sample of families

artículo científico publicado en 2013

Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain

artículo científico publicado en 2013

The effect of BDNF val66met polymorphism on visuomotor adaptation.

artículo científico publicado en 2012

The long-term outcome of orthostatic tremor

artículo científico publicado en 2015

The natural history of Unverricht-Lundborg disease: A report of eight genetically proven cases

artículo científico publicado en 2008

The social impact of Parkinson's disease in Spain: Report by the Spanish Foundation for the Brain.

artículo científico

The use of botulinum toxin in the treatment of sialorrhea in parkinsonian disorders

artículo científico publicado en 2014

Tics and other stereotyped movements as side effects of pharmacological treatment

artículo científico publicado en 2013

Lista de obras de Pablo Mir

A replication study of GWAS-genetic risk variants associated with Parkinson's disease in a Spanish population

Aberrant cortical associative plasticity associated with severe adult Tourette syndrome

Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation.

Abnormal cerebellar connectivity and plasticity in isolated cervical dystonia

Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia

Abnormal sensorimotor integration correlates with cognitive profile in vascular parkinsonism

Abnormal sensorimotor plasticity in CADASIL correlates with neuropsychological impairment

Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers

Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.

Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene

Advanced Parkinson's disease: clinical characteristics and treatment (part 1)

Advanced Parkinson's disease: clinical characteristics and treatment. Part II.

Alteration of central motor excitability in a patient with hemimasticatory spasm after treatment with botulinum toxin injections

Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain.

Analysis of shared heritability in common disorders of the brain

Atypical movement disorders in antiphospholipid syndrome

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis

Brain-derived neurotrophic factor G196A polymorphism and clinical features in Parkinson's disease

Carotid body autotransplantation in Parkinson disease: a clinical and positron emission tomography study.

Cerebellar magnetic stimulation decreases levodopa-induced dyskinesias in Parkinson disease.

Changes in intracortical circuits of the human motor cortex following theta burst stimulation of the lateral cerebellum

Clinical features and 123I-FP-CIT SPECT imaging in drug-induced parkinsonism and Parkinson's disease

Clinical features and 123I-FP-CIT SPECT imaging in vascular parkinsonism and Parkinson's disease.

Clinical features and neuropsychological profile in vascular parkinsonism

Cluster headache with aura.

Common variation in the LRRK2 gene is a risk factor for Parkinson's disease

Consensus on the Definition of Advanced Parkinson's Disease: A Neurologists-Based Delphi Study (CEPA Study).

DYT-1 gene dystonic tremor presenting as a "scan without evidence of dopaminergic deficit".

Diagnostic agreement in patients with psychogenic movement disorders

Distinguishing SWEDDs patients with asymmetric resting tremor from Parkinson's disease: a clinical and electrophysiological study

Dopaminergic drugs restore facilitatory premotor-motor interactions in Parkinson disease

Effects of two weeks of cerebellar theta burst stimulation in cervical dystonia patients

Efficacy of levodopa/carbidopa/entacapone versus levodopa/carbidopa in patients with early Parkinson's disease experiencing mild wearing-off: a randomised, double-blind trial

Enhanced Motivational Modulation of Motor Behaviour with Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease

Functional neuroimaging in the diagnosis of patients with Parkinsonism: Update and recommendations for clinical use

GDNF gene is associated with tourette syndrome in a family study

Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.

Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

Glucose-6-phosphate dehydrogenase activity in Parkinson's disease

Impaired motor cortical plasticity associated with cannabis use disorder in young adults

Integrating genetic and clinical data to predict impulse control disorders in Parkinson's disease

Intermediate alleles at the FRAXA and FRAXE loci in Parkinson's disease.

International study on the psychometric attributes of the non-motor symptoms scale in Parkinson disease

Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.

Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients

Lack of validation of variants associated with cervical dystonia risk: a GWAS replication study.

Long runs of homozygosity are associated with Alzheimer's disease

Long-term levodopa/carbidopa intestinal gel in advanced Parkinson's disease.

Low serum uric acid concentration in Parkinson's disease in southern Spain

Machine learning models for the differential diagnosis of vascular parkinsonism and Parkinson's disease using [(123)I]FP-CIT SPECT.

Mitochondrial DNA A4336G mutation in Alzheimer's and Parkinson's diseases

Motivation and movement: the effect of monetary incentive on performance speed

Motivational modulation of bradykinesia in Parkinson's disease off and on dopaminergic medication

Motor system inhibition in dopa-responsive dystonia and its modulation by treatment

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review

N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease

Novel Lrrk2-p.S1761R mutation is not a common cause of Parkinson's disease in Spain.

Olfaction in patients with suspected parkinsonism and scans without evidence of dopaminergic deficit (SWEDDs).

On the long-term outcome of orthostatic tremor

PSMC1Gene in Parkinson s Disease

Parieto-motor cortical dysfunction in primary cervical dystonia

Parieto-motor functional connectivity is impaired in Parkinson's disease.

Paroxysmal dyskinesia with interictal myoclonus and dystonia: A report of two cases

Patients with adult-onset dystonic tremor resembling parkinsonian tremor have scans without evidence of dopaminergic deficit (SWEDDs).

Polyneuropathy while on duodenal levodopa infusion in Parkinson's disease patients: we must be alert.

Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement

Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder

Prevalence and clinical features of LRRK2 mutations in patients with Parkinson's disease in southern Spain

Prophylactic treatment of episodic cluster headache with intravenous bolus of methylprednisolone

Restless legs may be associated with the post-polio syndrome

Secondary and primary dystonia: pathophysiological differences

Secondary generalized dystonia without basal ganglia damage

Sensory perception changes induced by transcranial magnetic stimulation over the primary somatosensory cortex in Parkinson's disease

Short-afferent inhibition and cognitive impairment in Parkinson's disease: A quantitative review and challenges

Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson's Disease

Statuslike SUNCT in two young women

Study of cerebello-thalamocortical pathway by transcranial magnetic stimulation in Parkinson's disease.

Support of the histaminergic hypothesis in Tourette syndrome: association of the histamine decarboxylase gene in a large sample of families