Marcelo A. Kauffman, MD, PhD

Functional Neurological Disorder during Foscarbidopa/Foslevodopa Infusion in PRKN-Associated Parkinsonism

Protective or Pathogenic? Kinase activity and the neurodevelopmental origins of G2019S LRRK2-Associated Parkinson's disease

Epidemiology of Levodopa-Induced Dyskinesia: Prevalence and Associated Clinical Factors in Latin America

"Mini Molar Tooth" Sign in POLR3B-Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy

Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset cerebral X-linked adrenoleukodystrophy

Clinical Reasoning: Juvenile-Onset Dopa-Responsive Dystonia-Until It Isn't

Artificial Intelligence-Based Virtual Assistant for the Diagnostic Approach of Chronic Ataxias

POLR3-related leukodystrophy: A qualitative study on parents' experiences with the health care system

The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative Study

CADASIL Argentine Registry: Study Design and Preliminary Data

Machine Learning approaches for predicting Levodopa-Induced Dyskinesias in Latino Populations

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic

Corrigendum: Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America

Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa

Recalibrating the Why and Whom of Animal Models in Parkinson Disease: A Clinician's Perspective

GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians

Parkinson's Disease Gene Screening in Familial Cases from Central and South America

Is SH3GL2 p.G276V the Causal Functional Variant Underlying Parkinson's Disease Risk at this Locus?

Omaveloxolone para la ataxia de Friedreich: un primer paso innovador hacia futuros avances en el tratamiento de esta enfermedad

F004 Intermediate allele CAG expansion in an early adulthood onset Huntington's disease

From Sequence to Structure to Function: De Novo Protein Design, the Role of AI and Structure Prediction Neural Networks

The emergence of genotypic divergence and future precision medicine applications

Targeting mTOR to overcome resistance to hormone and CDK4/6 inhibitors in ER-positive breast cancer models

SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?

Resolving 'vascular parkinsonism' -COL22A1 as a genetic adult-onset leukoencephalopathy

Multi-ancestry genome-wide association meta-analysis of Parkinson's disease

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2

Social concepts and the cerebellum: behavioural and functional connectivity signatures in cerebellar ataxic patients

Shaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a Chilean family

Consenso Argentino sobre Diagnóstico y Tratamiento de la Enfermedad de Niemann-Pick tipo C

Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing

Serie de 46 pacientes con paraparesia espástica. Presentación clínica y dificultades diagnósticas

A Diagnostic Approach to Spastic Ataxia Syndromes

Autosomal recessive cerebellar ataxias in South America: a multicenter study of 1338 patients

Novel dominant variant in STUB1 causing ataxia, movement disorders and cognitive impairment: a complex phenotype mimicking SCA17

A familiar study on self-limited childhood epilepsy patients using hIPSC-derived neurons shows a bias towards immaturity at the morphological, electrophysiological and gene expression levels

Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation

Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions

Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology

Genetic parkinsonisms and cancer: a systematic review and meta-analysis

Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions

When does postural instability appear in monogenic parkinsonisms? An individual-patient meta-analysis

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Recognizing atypical dopa-responsive dystonia and its mimics

Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort

Un Nuevo Tiempo en Neurología Argentina

Phenotype-Agnostic Molecular Subtyping of Neurodegenerative Disorders: The Cincinnati Cohort Biomarker Program (CCBP)

The odyssey of complex neurogenetic disorders: From undetermined to positive

Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again

Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time

How have advances in genetic technology modified movement disorder nosology?

A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas

Disease modification and biomarker development in Parkinson disease: Revision or reconstruction?

Benign versus malignant Parkinson disease: the unexpected silver lining of motor complications

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years

Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis

Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing

DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family

Head tremor at disease onset: an ataxic phenotype of cervical dystonia

Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases

El hombre y sus 1001 laberintos genómicos: historia universal de una infamia

Holmes Tremor-Like Phenotype in DYT1 Dystonia

Epileptic chorea: Another window into neural networks?

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

Teaching Video NeuroImages: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

Biomarker-driven phenotyping in Parkinson's disease: A translational missing link in disease-modifying clinical trials

The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to STUB1 mutations

Diagnóstico de las enfermedades mitocondriales: utilidad de un abordaje clínico-molecular sistematizado incorporando secuenciación de alto rendimiento

Gerstmann-Sträussler-Scheinker syndrome in an Argentinean family due to mutation at codon 117 of the Prion Protein Gene (PrPA117V)

Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification

De las doctrinas de la lotería de Babilonia a la medicina de precisión en los gliomas

Timely diagnosis of Wilson's disease using whole exome sequencing

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic

Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder

Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia

Distrofia muscular de Emery-Dreifuss: la importancia de un estudio ordenado a partir de la clínica y una correcta caracterización etiológico-molecular

Diagnóstico genómico en neurología clínica

De la Cabalá y el mosaicismo somático en el sistema nervioso central

Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations

Neurología genómica personalizada: El futuro es ahora

Imágenes por resonancia magnética anormales como predictoras de mal pronóstico en epilepsia focal

The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia

Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis

Huntington's disease masquerading as spinocerebellar ataxia

SCN1A testing for epilepsy: Application in clinical practice

Tres preguntas y una respuesta: algoritmo diagnóstico molecular en enfermedades mitocondriales

SLC6A4 gene variants and temporal lobe epilepsy susceptibility: a meta-analysis

Malformations of cortical development and epilepsy in adult patients

Diagnosis of mitochondrial disorders applying massive pyrosequencing

Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup

TNFRSF1A R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina

Alteraciones extrahipocámpicas en epilepsia temporal mesial con esclerosis del hipocampo

Algunas reflexiones sobre genomas e información genética en Babel y Buenos Aires

Contribution of diffusion tensor magnetic resonance imaging to the diagnosis of focal cortical dysplasias

Farmacogenética del síndrome de la epilepsia mesial temporal con esclerosis del hipocampo: estudio de hospital público de la Ciudad de Buenos Aires

Immunogenicity of an interferon-beta1a product

Myoclonus and angiokeratomas in adult galactosialidosis

ApoE epsilon4 genotype and the age at onset of temporal lobe epilepsy: a case-control study and meta-analysis

Cardiopatías y arritmias en patologías neuromusculares hereditarias: un desafío diagnóstico para el cardiólogo

Whole genome analysis of the action of interferon-beta

Comment to Tumour necrosis factor alpha gene -376 polymorphism in Hungarian patients with primary progressive multiple sclerosis

Serotonin transporter gene variation and refractory mesial temporal epilepsy with hippocampal sclerosis

ApoE epsilon4 is not associated with posictal confusion in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

Pharmacokinetics and pharmacodynamics of interferon beta 1a in Cebus apella

Psychotic disorders in Argentine patients with refractory temporal lobe epilepsy: a case-control study

Bioequivalence of two subcutaneous pharmaceutical products of interferon beta la

Clinical spectrum and difficulties in management of hypothalamic hamartoma in a developing country

Transcriptionally less active prodynorphin promoter alleles are associated with temporal lobe epilepsy: a case-control study and meta-analysis

Association study between interleukin 1 beta gene and epileptic disorders: a HuGe review and meta-analysis

GABABR1 (G1465A) gene variation and temporal lobe epilepsy controversy: new evidence

Two recombinant human interferon-beta 1a pharmaceutical preparations produce a similar transcriptional response determined using whole genome microarray analysis

Is tumor necrosis factor-376A promoter polymorphism associated with susceptibility to multiple sclerosis?

Re: How accurate are bedside hearing tests?

Asociación entre alelos transcripcionalmente deficientes del gen de la prodinorfina y el desarrollo de epilepsia del lóbulo temporal

El polimorfismo G1465A del gen GABBR1 es un marcador de riesgo para el desarrollo de epilepsia mesial temporal con esclerosis del hipocampo