Marcelo Kauffman

Hospital Ramos Mejía — Argentina

Neuroscience · Life Sciences

24h-index2.4kcitations143works1.72yr avg
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Research Topics

Genetic Neurodegenerative Diseases(31), Mitochondrial Function and Pathology(23), Genomics and Rare Diseases(20), Parkinson's Disease Mechanisms and Treatments(18), Neurological disorders and treatments(18)

Publications142 total

Functional Neurological Disorder during Foscarbidopa/Foslevodopa Infusion in <scp> <i>PRKN</i> </scp> ‐Associated Parkinsonism
Movement Disorders Clinical Practice·2026
Association of LRRK2 p.A419V with Parkinson’s Disease in East Asians and analysis of age at onset
npj Parkinson s Disease·2026Open Access
The Impact of RNA Polymerase III–Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study
Pediatric Neurology·2025Open Access
TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations
npj Parkinson s Disease·2025· 2 citedOpen Access
CADASIL Argentine Registry: Study Design and Preliminary Data
Alzheimer s & Dementia·2025Open Access
Protective or Pathogenic? Kinase activity and the neurodevelopmental origins of G2019S LRRK2-Associated Parkinson's disease
Parkinsonism & Related Disorders·2025
EPIDEMIOLOGY OF LEVODOPA-INDUCED DYSKINESIA: PREVALENCE AND ASSOCIATED CLINICAL FACTORS IN LATIN AMERICA
2025Open Access
Insights into ancestral diversity in Parkinson’s disease risk: a comparative assessment of polygenic risk scores
npj Parkinson s Disease·2025· 4 citedOpen Access
“Mini Molar Tooth” Sign in <scp> <i>POLR3B</i> </scp> ‐Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy
Movement Disorders Clinical Practice·2025Open Access
Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset cerebral X-linked adrenoleukodystrophy: Expert commentary Marcelo Kauffman, MD, PhD
Parkinsonism & Related Disorders·2025
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
npj Parkinson s Disease·2025· 3 citedOpen Access
Artificial Intelligence‐Based Virtual Assistant for the Diagnostic Approach of Chronic Ataxias
Movement Disorders·2025· 6 citedOpen Access
Clinical Reasoning: Juvenile-Onset Dopa-Responsive Dystonia—Until It Isn't
Neurology·2025· 3 cited
POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences With the Health Care System
Pediatric Neurology·2025· 2 citedOpen Access
The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative Study
SSRN Electronic Journal·2025Open Access
Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic
Biomedicines·2024Open Access
F004 Intermediate allele CAG expansion in an early adulthood onset Huntington´s disease
2024Open Access
Corrigendum to “Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa.” [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060]
Molecular Genetics and Metabolism Reports·2024Open Access
From Sequence to Structure to Function: De Novo Protein Design, the Role of AI and Structure Prediction Neural Networks
Preprints.org·2024· 2 citedOpen Access
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa
Molecular Genetics and Metabolism Reports·2024· 5 citedOpen Access
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Frequent Co-authors

Alberto J. Espay(15), Luca Marsili(11), Dolores González‐Morón(11), D. Consalvo(11), Marta Córdoba(9), Patricia Vega(8), Nancy Medina(8), Silvia Kochen(8), Aristide Merola(7), Andrea Sturchio(7), Joaquín A. Vizcarra(6), Alok Dwivedi(6), Dolores González Morón(6), Sergio Rodríguez Quiroga(6), Valeria Salinas(5), Alfonso Fasano(4), Ignácio F. Mata(4), Paula Saffie Awad(4), Sergio Alejandro Rodríguez‐Quiroga(4), Hernán Amartino(4)