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Horacio Kaufmann

Dysautonomia Foundation ·
Area of research
Cellular and Molecular Neuroscience · Surgery
Research interest
Research interests include Cardiovascular Syncope and Autonomic Disorders, Parkinson's Disease Mechanisms and Treatments, Genetic Neurodegenerative Diseases, and Hereditary Neurological Disorders.
h-index
71
citations
25,955
works
440
NIH funding
primary concept
email

Recent publications

Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies
JAMA 2024cited by 173position: middledoi
Genome sequence analyses identify novel risk loci for multiple system atrophy
Neuron 2024cited by 40position: middledoi
Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study
Brain 2024cited by 29position: lastdoi
Pain in Multiple System Atrophy: A Community‐Based Survey
Movement Disorders 2024cited by 5position: middledoi
Neuronal and glial cell alterations involved in the retinal degeneration of the familial dysautonomia optic neuropathy
Glia 2024cited by 4position: middledoi
Cutaneous α-Synuclein Signatures in Patients With Multiple System Atrophy and Parkinson Disease
Neurology 2023cited by 95position: middledoi
Toward a biomarker panel measured in CNS-originating extracellular vesicles for improved differential diagnosis of Parkinson’s disease and multiple system atrophy
Translational Neurodegeneration 2023cited by 28position: middledoi
Familial dysautonomia
Clinical Autonomic Research 2023cited by 25position: middledoi
Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia
Nature Communications 2023cited by 18position: middledoi
Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay
Amyloid 2023cited by 14position: lastdoi
The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy
Movement Disorders 2022cited by 757position: lastdoi
Multiple system atrophy
Nature Reviews Disease Primers 2022cited by 253position: lastdoi
Diagnosis and treatment of orthostatic hypotension
The Lancet Neurology 2022cited by 185position: middledoi
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update
Orphanet Journal of Rare Diseases 2022cited by 88position: middledoi
Fear conditioning as a pathogenic mechanism in the postural tachycardia syndrome
Brain 2022cited by 23position: lastdoi
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
Nature Genetics 2021cited by 475position: middledoi
α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy
Acta Neuropathologica 2021cited by 158position: middledoi
Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment
Parkinsonism & Related Disorders 2021cited by 49position: lastdoi
Limitations of the Unified Multiple System Atrophy Rating Scale as outcome measure for clinical trials and a roadmap for improvement
Clinical Autonomic Research 2021cited by 41position: lastdoi
Glia Imaging Differentiates Multiple System Atrophy from Parkinson's Disease: A Positron Emission Tomography Study with [<scp><sup>11</sup>C</scp>]<scp>PBR28</scp> and Machine Learning Analysis
Movement Disorders 2021cited by 39position: middledoi
Safety and efficacy of ampreloxetine in symptomatic neurogenic orthostatic hypotension: a phase 2 trial
Clinical Autonomic Research 2021cited by 28position: firstdoi
Different phenoconversion pathways in pure autonomic failure with versus without Lewy bodies
Clinical Autonomic Research 2021cited by 23position: lastdoi
Baroreflex Dysfunction
New England Journal of Medicine 2020cited by 258position: firstdoi
The impact of supine hypertension on target organ damage and survival in patients with synucleinopathies and neurogenic orthostatic hypotension
Parkinsonism & Related Disorders 2020cited by 64position: lastdoi
Validation of the Neurogenic Orthostatic Hypotension Ratio with Active Standing
Annals of Neurology 2020cited by 43position: middledoi
Clinical Trials for Neurogenic Orthostatic Hypotension: A Comprehensive Review of Endpoints, Pitfalls, and Challenges
Seminars in Neurology 2020cited by 15position: lastdoi
Von Economo Neuron Pathology in Familial Dysautonomia: Quantitative Assessment and Possible Implications
Journal of Neuropathology & Experimental Neurology 2020cited by 9position: middledoi
Orthostatic Hypotension in Parkinson Disease
Clinics in Geriatric Medicine 2019cited by 100position: lastdoi
A critique of the second consensus criteria for multiple system atrophy
Movement Disorders 2019cited by 92position: middledoi
Management of supine hypertension in patients with neurogenic orthostatic hypotension
Journal of Hypertension 2019cited by 87position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

Jose‐Alberto Palma · Eli Lilly (United States)33 papers (2013–2024)Lucy Norcliffe‐Kaufmann · 23andMe (United States)30 papers (2012–2024)Gregor K. Wenning · Ludwig-Maximilians-Universität München15 papers (2014–2024)Italo Biaggioni · University of Alabama at Birmingham11 papers (2014–2024)Klaus Seppi · National Institute of Neurological Disorders and Stroke10 papers (2014–2024)Werner Poewe · Management Center Innsbruck9 papers (2014–2022)Alessandra Fanciulli · New York Medical College8 papers (2018–2024)Phillip A. Low · Mayo Clinic8 papers (2014–2024)Roy Freeman · Beth Israel Deaconess Medical Center7 papers (2014–2024)Christopher H. Gibbons · Harvard University5 papers (2017–2024)Carlos E. Mendoza‐Santiesteban · University of Miami5 papers (2014–2024)Wolfgang Singer · Mayo Clinic5 papers (2014–2024)David S. Goldstein · KU Leuven4 papers (2017–2024)Florian Krismer · University of Florida4 papers (2014–2021)Amanda Peltier · Virginia Commonwealth University3 papers (2017–2024)Alejandra González‐Duarte · New York University3 papers (2019–2024) · 3 papers (2014–2022)Wassilios G. Meissner · University of Otago3 papers (2014–2022)Pietro Cortelli · Institute of Neurological Sciences3 papers (2016–2019)Jose Martinez · New York University3 papers (2013–2015)