List of works - Horacio Kaufmann

A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia

scientific article published on 12 December 2017

A double-blind, dose-response study of midodrine in neurogenic orthostatic hypotension

scientific article published on 01 July 1998

A rating scale for the functional assessment of patients with familial dysautonomia (Riley Day syndrome).

scientific article published on 23 June 2012

A validated test for neurogenic orthostatic hypotension at the bedside

scientific article published on 01 December 2018

Afferent baroreflex failure in familial dysautonomia ⬇️

scientific article published on November 23, 2010

An orthostatic hypotension mimic: The inebriation-like syndrome in Parkinson disease

scientific article

Artificial gravity: A possible countermeasure for post-flight orthostatic intolerance

scientific article published on 01 May 2005

Autonomic Findings in Takotsubo Cardiomyopathy

scientific article

Autonomic cardiovascular reflexes in Wilson's disease

scientific article published in June 2002

Autonomic disorders predicting Parkinson's disease

scientific article

Autonomic dysfunction in Parkinson disease.

scientific article published on January 2013

Autonomic dysfunction in Parkinson's disease

scientific article published on 01 January 2007

Autonomic failure as the initial presentation of Parkinson disease and dementia with Lewy bodies

scientific article

Baroreflex Dysfunction

scientific article published on 01 January 2020

Brain magnetic resonance imaging in multiple-system atrophy and Parkinson disease: a diagnostic algorithm

scientific article published in May 2002

Brain structural profile of multiple system atrophy patients with cognitive impairment

scientific article published on 24 October 2016

Brainstem reflexes in familial dysautonomia. Reply to "Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation".

scientific article published on 20 October 2015

Brainstem reflexes in patients with familial dysautonomia

scientific article published on 3 July 2014

Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome? ⬇️

scientific article published on November 1, 2011

Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia

scientific article published on 19 November 2012

Cardiovascular and neuroendocrine features of Panayiotopoulos syndrome in three siblings

scientific article published on 07 April 2011

Cerebellar and parkinsonian phenotypes in multiple system atrophy: similarities, differences and survival.

scientific article

Cerebral autoregulation and symptoms of orthostatic hypotension in familial dysautonomia.

scientific article published in January 2016

Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep

scientific article published on 15 February 2019

Chewing-induced hypertension in afferent baroreflex failure: a sympathetic response?

scientific article published on 04 October 2015

Clinical neuro-ophthalmic findings in familial dysautonomia

scientific article published in March 2012

Clinical pharmacokinetics of the norepinephrine precursor L-threo-DOPS in primary chronic autonomic failure

scientific article published in December 2004

Cognitive impairment in multiple system atrophy: a position statement by the Neuropsychology Task Force of the MDS Multiple System Atrophy (MODIMSA) study group

scientific article

Complicated peptic ulcer disease in three patients with familial dysautonomia

scientific article published on 01 August 2011

Consensus statement on the definition of neurogenic supine hypertension in cardiovascular autonomic failure by the American Autonomic Society (AAS) and the European Federation of Autonomic Societies (EFAS) : Endorsed by the European Academy of Neurol

Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome

article

Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome.

scientific article published on 9 March 2011

Current treatments in familial dysautonomia

scientific article

Cutting the vagal highway blocks one point of entry for prion-like alpha-synuclein.

scientific article

Cyclic vomiting associated with excessive dopamine in Riley-day syndrome

scientific article published in February 2013

Defining and classifying syncope

scientific article

Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome

scientific article published in December 2011

Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia.

scientific article published on 17 October 2016

Diagnosis and treatment of neurally mediated syncope

scientific article published in May 2002

Diagnosis of multiple system atrophy

scientific article

Diffusion-weighted MRI distinguishes Parkinson disease from the parkinsonian variant of multiple system atrophy: A systematic review and meta-analysis

scientific article published on 29 December 2017

Direct evidence of acute, massive striatal dopamine release in gerbils with unilateral strokes

scientific article published on 01 January 1987

Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III.

scientific article

Dopamine β-hydroxylase deficiency involves the central autonomic network

article

Droxidopa for neurogenic orthostatic hypotension: a randomized, placebo-controlled, phase 3 trial

scientific article

Droxidopa in neurogenic orthostatic hypotension

scientific article

Early and delayed orthostatic hypotension: Time tells

scientific article published on 23 September 2015

Early distinction of Parkinson-variant multiple system atrophy from Parkinson's disease

scientific article published on 20 February 2019

Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation

scientific article published on 11 May 2019

Effect of medication and psychotherapy on heart rate variability in panic disorder

scientific article published in January 2009

Effects of the novel norepinephrine prodrug, droxidopa, on ambulatory blood pressure in patients with neurogenic orthostatic hypotension

scientific article

Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial.

scientific article

Electrical activation of the human vestibulo-sympathetic reflex

scientific article published on 25 November 2005

Endovascular procedures for the treatment of autonomic dysfunction

scientific article published on November 2013

Enhanced vascular responses to hypocapnia in neurally mediated syncope

scientific article published in March 2008

Epidemiology, Diagnosis, and Management of Neurogenic Orthostatic Hypotension

scientific article

Familial dysautonomia (Riley-Day syndrome): when baroreceptor feedback fails.

scientific article published on 20 November 2012

Familial dysautonomia: History, genotype, phenotype and translational research

scientific article published on 14 June 2016

Familial dysautonomia: a disease with hidden tears.

scientific article published on 11 April 2017

Focus on multiple system atrophy. Introduction

scientific article published in February 2015

Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.

scientific article published on 26 November 2017

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

scientific article published on 15 February 2021

Heart rate and blood pressure changes during autonomic nervous system challenge in panic disorder patients

scientific article published on 05 April 2010

Hoeldtke RD (2003) Nitrosative stress in early Type 1 diabetes. Clin Auton Res 13:406-421

scientific article published on 01 June 2007

Hyperdopaminergic crises in familial dysautonomia: a randomized trial of carbidopa.

scientific article published on 3 April 2013

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report

scientific article published on 25 October 2018

Impact of depressive symptoms on self-perceived severity of autonomic dysfunction in multiple system atrophy: relevance for patient-reported outcomes in clinical trials

scientific article published on 03 April 2020

Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles

scientific article published on 19 September 2018

Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia

scientific article published on 12 January 2019

Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature

scientific article published on 26 February 2011

Increased frequency of rhabdomyolysis in familial dysautonomia

scientific article

Increasing cutaneous afferent feedback improves proprioceptive accuracy at the knee in patients with sensory ataxia.

scientific article published on 9 December 2015

Integrated analysis of droxidopa trials for neurogenic orthostatic hypotension.

scientific article

Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia

scientific article published on 3 July 2017

Is ambulatory blood pressure monitoring useful in patients with chronic autonomic failure?

scientific article published on 8 April 2014

Is multiple system atrophy an infectious disease?

scientific article published on 2 January 2018

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia ⬇️

scientific article published on November 1, 2011

L-DOPS therapy for refractory orthostatic hypotension in autoimmune autonomic neuropathy

scientific article

L-dihydroxyphenylserine (Droxidopa): a new therapy for neurogenic orthostatic hypotension: the US experience.

scientific article published on 27 March 2008

Management of Neurogenic Orthostatic Hypotension in Patients with Autonomic Failure ⬇️

scientific article published on August 1, 2013

Management of Orthostatic Hypotension

scientific article published on 01 February 2020

Management of supine hypertension in patients with neurogenic orthostatic hypotension: scientific statement of the American Autonomic Society, European Federation of Autonomic Societies, and the European Society of Hypertension

scientific article published on 01 August 2019

Midodrine in neurally mediated syncope: a double-blind, randomized, crossover study

scientific article

Mirabegron in patients with Parkinson disease and overactive bladder symptoms: A retrospective cohort

scientific article published on 20 July 2018

Mother-induced hypertension in familial dysautonomia

scientific article published on 21 November 2015

Natural history of pure autonomic failure: A United States prospective cohort

scientific article published on 17 January 2017

Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia

scientific article

Neurogenic orthostatic hypotension: new prospects in treatment. Introduction

scientific article published in March 2008

Norepinephrine deficiency in Parkinson's disease: the case for noradrenergic enhancement

scientific article

Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis

scientific article published on 13 March 2015

Novel therapeutic approaches in multiple system atrophy

scientific article

Orthostatic Heart Rate Changes in Patients with Autonomic Failure caused by Neurodegenerative Synucleinopathies

scientific article published on 5 February 2018

Orthostatic Hypotension as a Prodromal Marker of α-Synucleinopathies

scientific article published on 01 September 2018

Orthostatic Hypotension in Parkinson Disease

scientific article published on 06 September 2019

Orthostatic hypotension in Parkinson disease: how much you fall or how low you go?

scientific article

Orthostatic hypotension in hereditary transthyretin amyloidosis: epidemiology, diagnosis and management

scientific article published on 26 August 2019

Pathologic confirmation of retinal ganglion cell loss in multiple system atrophy.

scientific article published on 10 May 2017

Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia

scientific article published on March 2017

Pharmacological treatment of reflex syncope

scientific article published in October 2004

Pharmacotherapy of Cardiovascular Autonomic Dysfunction in Parkinson Disease

scientific article published on 26 October 2017

Plasma endothelin during upright tilt: relevance for orthostatic hypotension?

scientific article published in December 1991

Preserved emotional modulation of motor response time despite psychomotor slowing in young-old adults

scientific article published on 17 May 2011

Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia.

scientific article published on 7 February 2018

Prevalence of REM sleep behavior disorder in multiple system atrophy: a multicenter study and meta-analysis

scientific article

Progressive retinal structure abnormalities in multiple system atrophy

scientific article

Pure autonomic failure. Bradbury Eggleston Syndrome. Case report

scientific article published in February 2005

Pure autonomic failure: a restricted Lewy body synucleinopathy or early Parkinson disease?

scientific article

Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia

scientific article published on 19 February 2019

Randomized withdrawal study of patients with symptomatic neurogenic orthostatic hypotension responsive to droxidopa

scientific article

Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting.

scientific article published on 13 December 2017

Relationship between proprioception at the knee joint and gait ataxia in HSAN III.

scientific article published on 16 May 2013

Renal transplantation in familial dysautonomia: report of two cases and review of the literature.

scientific article published on 17 June 2010

Reply to "Pure autonomic failure vs. Manifest CNS synucleinopathy: Relevance of stridor and autonomic biomarkers".

scientific article published on 5 June 2017

Reply: To PMID 25627679

scientific article published on 03 July 2015

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations

scientific article published on 21 June 2018

Selective retinal ganglion cell loss in familial dysautonomia

scientific article published on 2 February 2014

Seropositive myasthenia and autoimmune autonomic ganglionopathy: cross reactivity or subclinical disease?

scientific article published on 13 July 2011

Stridor in multiple system atrophy: Consensus statement on diagnosis, prognosis, and treatment

scientific article published on 01 October 2019

Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study

scientific article published on 18 May 2017

Supine plasma NE predicts the pressor response to droxidopa in neurogenic orthostatic hypotension

scientific article published on 19 September 2018

Supranuclear gaze palsy and horizontal ocular oscillations in Creutzfeldt-Jakob disease.

scientific article published in August 2017

Syncope: a clinically guided diagnostic algorithm

scientific article published in October 2004

Tachyarrythmias with elevated cardiac enzymes in Münchausen syndrome.

scientific article published on 28 April 2010

The Clinical Autonomic Research journal 2017 and onward

scientific article published on 16 June 2017

The Clinical Autonomic Research journal 2018 and onward

scientific article published on 2 February 2018

The Clinical Autonomic Research journal 2019 and onward

scientific article published on 17 January 2019

The Movement Disorders task force review of dysautonomia rating scales in Parkinson's disease with regard to symptoms of orthostatic hypotension

scientific article published on 05 May 2011

The Orthostatic Hypotension Questionnaire (OHQ): validation of a novel symptom assessment scale

scientific article published on 02 November 2011

The R3 component of the electrically elicited blink reflex is present in patients with congenital insensitivity to pain

scientific article published on 11 December 2008

The Retina in Multiple System Atrophy: Systematic Review and Meta-Analysis.

scientific article

The recommendations of a consensus panel for the screening, diagnosis, and treatment of neurogenic orthostatic hypotension and associated supine hypertension.

scientific article published on 3 January 2017

Treatment of autonomic dysfunction in Parkinson disease and other synucleinopathies

scientific article published in March 2018

Treatment of patients with orthostatic hypotension and syncope

scientific article

Urinary retention discriminates multiple system atrophy from Parkinson's disease

scientific article published on 11 November 2019

Urodynamic Mechanisms Underlying Overactive Bladder Symptoms in Patients With Parkinson Disease

scientific article published on 30 September 2019

Usefulness of tilt-induced heart rate changes in the differential diagnosis of vasovagal syncope and chronic autonomic failure

scientific article published in December 2009

Vascular endothelial function and blood pressure regulation in afferent autonomic failure

scientific article

Vitamin B12-responsive severe leukoencephalopathy and autonomic dysfunction in a patient with "normal" serum B12 levels

scientific article published on 28 June 2010

White Matter Hyperintensities in the Synucleinopathies: Orthostatic Hypotension, Supine Hypertension, or Both?

scientific article published on 18 July 2020

List of works by Horacio Kaufmann

A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia

A double-blind, dose-response study of midodrine in neurogenic orthostatic hypotension

A rating scale for the functional assessment of patients with familial dysautonomia (Riley Day syndrome).

A validated test for neurogenic orthostatic hypotension at the bedside

Afferent baroreflex failure in familial dysautonomia ⬇️

An orthostatic hypotension mimic: The inebriation-like syndrome in Parkinson disease

Artificial gravity: A possible countermeasure for post-flight orthostatic intolerance

Autonomic Findings in Takotsubo Cardiomyopathy

Autonomic cardiovascular reflexes in Wilson's disease

Autonomic disorders predicting Parkinson's disease

Autonomic dysfunction in Parkinson disease.

Autonomic dysfunction in Parkinson's disease

Autonomic failure as the initial presentation of Parkinson disease and dementia with Lewy bodies

Baroreflex Dysfunction

Brain magnetic resonance imaging in multiple-system atrophy and Parkinson disease: a diagnostic algorithm

Brain structural profile of multiple system atrophy patients with cognitive impairment

Brainstem reflexes in familial dysautonomia. Reply to "Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation".

Brainstem reflexes in patients with familial dysautonomia

Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome? ⬇️

Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia

Cardiovascular and neuroendocrine features of Panayiotopoulos syndrome in three siblings

Cerebellar and parkinsonian phenotypes in multiple system atrophy: similarities, differences and survival.

Cerebral autoregulation and symptoms of orthostatic hypotension in familial dysautonomia.

Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep

Chewing-induced hypertension in afferent baroreflex failure: a sympathetic response?

Clinical neuro-ophthalmic findings in familial dysautonomia

Clinical pharmacokinetics of the norepinephrine precursor L-threo-DOPS in primary chronic autonomic failure

Cognitive impairment in multiple system atrophy: a position statement by the Neuropsychology Task Force of the MDS Multiple System Atrophy (MODIMSA) study group

Complicated peptic ulcer disease in three patients with familial dysautonomia

Consensus statement on the definition of neurogenic supine hypertension in cardiovascular autonomic failure by the American Autonomic Society (AAS) and the European Federation of Autonomic Societies (EFAS) : Endorsed by the European Academy of Neurol

Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome

Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome.

Current treatments in familial dysautonomia

Cutting the vagal highway blocks one point of entry for prion-like alpha-synuclein.

Cyclic vomiting associated with excessive dopamine in Riley-day syndrome

Defining and classifying syncope

Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome

Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia.

Diagnosis and treatment of neurally mediated syncope

Diagnosis of multiple system atrophy

Diffusion-weighted MRI distinguishes Parkinson disease from the parkinsonian variant of multiple system atrophy: A systematic review and meta-analysis

Direct evidence of acute, massive striatal dopamine release in gerbils with unilateral strokes

Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III.

Dopamine β-hydroxylase deficiency involves the central autonomic network

Droxidopa for neurogenic orthostatic hypotension: a randomized, placebo-controlled, phase 3 trial

Droxidopa in neurogenic orthostatic hypotension

Early and delayed orthostatic hypotension: Time tells

Early distinction of Parkinson-variant multiple system atrophy from Parkinson's disease

Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation

Effect of medication and psychotherapy on heart rate variability in panic disorder

Effects of the novel norepinephrine prodrug, droxidopa, on ambulatory blood pressure in patients with neurogenic orthostatic hypotension

Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial.

Electrical activation of the human vestibulo-sympathetic reflex

Endovascular procedures for the treatment of autonomic dysfunction

Enhanced vascular responses to hypocapnia in neurally mediated syncope

Epidemiology, Diagnosis, and Management of Neurogenic Orthostatic Hypotension

Familial dysautonomia (Riley-Day syndrome): when baroreceptor feedback fails.

Familial dysautonomia: History, genotype, phenotype and translational research

Familial dysautonomia: a disease with hidden tears.

Focus on multiple system atrophy. Introduction

Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Heart rate and blood pressure changes during autonomic nervous system challenge in panic disorder patients

Hoeldtke RD (2003) Nitrosative stress in early Type 1 diabetes. Clin Auton Res 13:406-421

Hyperdopaminergic crises in familial dysautonomia: a randomized trial of carbidopa.

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report

Impact of depressive symptoms on self-perceived severity of autonomic dysfunction in multiple system atrophy: relevance for patient-reported outcomes in clinical trials

Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles

Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia

Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature

Increased frequency of rhabdomyolysis in familial dysautonomia

Increasing cutaneous afferent feedback improves proprioceptive accuracy at the knee in patients with sensory ataxia.

Integrated analysis of droxidopa trials for neurogenic orthostatic hypotension.

Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia

Is ambulatory blood pressure monitoring useful in patients with chronic autonomic failure?

Is multiple system atrophy an infectious disease?

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia ⬇️

L-DOPS therapy for refractory orthostatic hypotension in autoimmune autonomic neuropathy

L-dihydroxyphenylserine (Droxidopa): a new therapy for neurogenic orthostatic hypotension: the US experience.