KAUFFMAN, MARCELO ANDRES; CALDERON, VALERIA SALINAS

The emergence of genotypic divergence and future precision medicine applications

Handbook of Clinical Neurology; Año: 2023 vol. 192 p. 87 - 99

PEDROSO, JOSÉ LUIZ; VALE, THIAGO CARDOSO; FRANÇA JUNIOR, MARCONDES C.; KAUFFMAN, MARCELO A.; TEIVE, HELIO; BARSOTTINI, ORLANDO GRAZIANI POVOAS; MUNHOZ, RENATO PUPPI

A Diagnostic Approach to Spastic ataxia Syndromes

CEREBELLUM; Año: 2022 vol. 21 p. 1073 - 1084

STURCHIO, ANDREA; DWIVEDI, ALOK K.; VIZCARRA, JOAQUIN A.; CHIRRA, MARTINA; KEELING, ELIZABETH G.; MATA, IGNACIO F.; KAUFFMAN, MARCELO A.; PANDEY, MANOJ K.; ROVIELLO, GIANDOMENICO; COMI, CRISTOFORO; VERSINO, MAURIZIO; MARSILI, LUCA; ESPAY, ALBERTO J.

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

REVIEWS IN THE NEUROSCIENCES; Año: 2021 vol. 32 p. 159 - 167

PELLETIER, FÉLIXE; PERRIER, STEFANIE; CAYAMI, FERDY K.; MIRCHI, AMYTICE; SAIKALI, STEPHAN; TRAN, LUAN T.; ULRICK, NICOLE; GUERRERO, KETHER; RAMPAKAKIS, EMMANOUIL; VAN SPAENDONK, ROSALINA M. L.; NAIDU, SAKKUBAI; POHL, DANIELA; GIBSON, WILLIAM T.; DEMOS, MICHELLE; GOIZET, CYRIL; TEJERA-MARTIN, INGRID; POTIC, ANA; FOGEL, BRENT L.; BRAIS, BERNARD; SYLVAIN, MICHEL; SÉBIRE, GUILLAUME; LOURENÇO, CHARLES MARQUES; BONKOWSKY, JOSHUA L.; CATSMAN-BERREVOETS, CORIENE; PINTO, PEDRO S.; TIRUPATHI, SANDYA; STRØMME, PETTER; DE GRAUW, TON; GIERUSZCZAK-BIALEK, DOROTA; KRÄGELOH-MANN, INGEBORG; MIERZEWSKA, HANNA; PHILIPPI, HEIKE; RANKIN, JULIA; ATIK, TAHIR; BANWELL, BRENDA; BENKO, WILLIAM S.; BLASCHEK, ASTRID; BLEY, ANNETTE; BOLTSHAUSER, EUGEN; BRATKOVIC, DRAGO; BROZOVA, KLARA; CIMAS, ICÍAR; CLOUGH, CHRISTOPHER; CORENBLUM, BERNARD; DINOPOULOS, ARGIRIOS; DOLAN, GAIL; FALETRA, FLAVIO; FERNANDEZ, RAYMOND; FLETCHER, JANICE; GARCIA GARCIA, MARIA EUGENIA; GASPARINI, PAOLO; GBUREK-AUGUSTAT, JANINA; GONZALEZ MORON, DOLORES; HAMATI, ALINE

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

JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Año: 2021 vol. 106 p. 660 - 674

DUQUE, KEVIN R.; MARSILI, LUCA; STURCHIO, ANDREA; MAHAJAN, ABHIMANYU; MEROLA, ARISTIDE; ESPAY, ALBERTO J.; KAUFFMAN, MARCELO A.

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

CEREBELLUM; Año: 2021 vol. 20 p. 134 - 139

SALLES, PHILIPPE A.; TERÁN-JIMENEZ, MÉRIDA; VIDAL-SANTORO, ALVARO; CHANÁ-CUEVAS, PEDRO; KAUFFMAN, MARCELO; ESPAY, ALBERTO J.

Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics

Neurology: Clinical Practice; Año: 2021 vol. 11

CASALIA, MARIANA L.; CASABONA, JUAN CRUZ; GARCÍA, CORINA; CAVALIERE CANDEDO, VERÓNICA; QUINTÁ, HÉCTOR RAMIRO; FARÍAS, MARÍA ISABEL; GONZALEZ, JOAQUÍN; GONZALEZ MORÓN, DOLORES; CÓRDOBA, MARTA; CONSALVO, DAMIAN; MOSTOSLAVSKY, GUSTAVO; URBANO, FRANCISCO J.; PASQUINI, JUANA; MURER, MARIO GUSTAVO; RELA, LORENA; KAUFFMAN, MARCELO A.; PITOSSI, FERNANDO J.

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

Stem Cell Research and Therapy; Año: 2021 vol. 12

PEDROSO, JOSÉ LUIZ; VALE, THIAGO CARDOSO; FRANÇA JUNIOR, MARCONDES C.; KAUFFMAN, MARCELO A.; TEIVE, HELIO; BARSOTTINI, ORLANDO GRAZIANI POVOAS; MUNHOZ, RENATO PUPPI

A Diagnostic Approach to Spastic ataxia Syndromes

CEREBELLUM; Año: 2021

SALINAS, VALERIA; MARTÍNEZ, NERINA; MATURO, JOSEFINA PÉREZ; RODRIGUEZ-QUIROGA, SERGIO A.; ZAVALA, LUCIA; MEDINA, NANCY; AMARTINO, HERNÁN; SFAELLO, IGNACIO; AGOSTA, GUILLERMO; SERAFÍN, EVA MARIA; MORÓN, DOLORES GONZÁLEZ; KAUFFMAN, MARCELO A.; VEGA, PATRICIA

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

EUROPEAN JOURNAL OF MEDICAL GENETICS; Año: 2021 vol. 64

MARSILI, LUCA; MATA, IGNACIO F.; KAUFFMAN, MARCELO A.

Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions

Frontiers in Neurology; Año: 2021 vol. 12

MARSILI, LUCA; SHARMA, JENNIFER; ESPAY, ALBERTO J.; MIGAZZI, ALICE; ABDELGHANY, ELHUSSEINI; HILL, EMILY J.; DUQUE, KEVIN R.; HAGEN, MATTHEW C.; STEPHEN, CHRISTOPHER D.; KOVACS, GABOR G.; LANG, ANTHONY E.; HADJIVASSILIOU, MARIOS; BASSO, MANUELA; KAUFFMAN, MARCELO A.; STURCHIO, ANDREA

Neither a novel tau proteinopathy nor an expansion of a phenotype: Reappraising clinicopathology-based nosology

International Journal of Molecular Sciences; Año: 2021 vol. 22

PEREZ MATURO, J.; ZAVALA, L.; VEGA, P.; GONZA?LEZ-MORO?N, D.; MEDINA, N.; SALINAS, V.; ROSALES, J.; CO?RDOBA, M.; ARAKAKI, T.; GARRETTO, N.; RODRI?GUEZ-QUIROGA, S.; KAUFFMAN, M. A.

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

JOURNAL OF HUMAN GENETICS; Año: 2020

PEREZ MATURO, JOSEFINA; GONZALEZ CID, MARCELA; ZAVALA, LUCIA; RODRIGUEZ QUIROGA, SERGIO; KAUFFMAN, MARCELO ANDRES

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

Movement Disorders Clinical Practice; Año: 2020 vol. 7 p. 727 - 729

STURCHIO, A.; MARSILI, L.; MAHAJAN, A.; GRIMBERG, M. B.; KAUFFMAN, M. A.; ESPAY, A. J.

How have advances in genetic technology modified movement disorder nosology?

EUROPEAN JOURNAL OF NEUROLOGY; Año: 2020 vol. 27 p. 1461 - 1470

SALINAS, VALERIA; VEGA, PATRICIA; MARSILI, LUCA; PÉREZ-MATURO, JOSEFINA; MARTÍNEZ, NERINA; ZAVALA, LUCIA; GONZÁLEZ-MORÓN, DOLORES; MEDINA, NANCY; RODRIGUEZ-QUIROGA, SERGIO A.; AMARTINO, HERNÁN; MAXIT, CLARISA; STURCHIO, ANDREA; GRIMBERG, BARBARA; DUQUE, KEVIN; COMAS, BETIANA; SILVA, WALTER; CONSALVO, DAMIÁN; SFAELLO, IGNACIO; ESPAY, ALBERTO J.; KAUFFMAN, MARCELO A.

The odyssey of complex neurogenetic disorders: From undetermined to positive

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS; Año: 2020 vol. 184 p. 876 - 884

STURCHIO, ANDREA; MARSILI, LUCA; VIZCARRA, JOAQUIN A.; DWIVEDI, ALOK K.; KAUFFMAN, MARCELO A.; DUKER, ANDREW P.; LU, PEIXIN; PAUCIULO, MICHAEL W.; WISSEL, BENJAMIN D.; HILL, EMILY J.; STECHER, BENJAMIN; KEELING, ELIZABETH G.; VAGAL, ACHALA S.; WANG, LILY; HASLAM, DAVID B.; ROBSON, MATTHEW J.; TANNER, CAROLINE M.; HAGEY, DANIEL W.; EL ANDALOUSSI, SAMIR; EZZAT, KARIEM; FLEMING, RONAN M. T.; LU, LONG J.; LITTLE, MAX A.; ESPAY, ALBERTO J.

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

Frontiers in Aging Neuroscience; Año: 2020 vol. 12

MEROLA, ARISTIDE; ROMAGNOLO, ALBERTO; DWIVEDI, ALOK K.; PADOVANI, ALESSANDRO; BERG, DANIELA; GARCIA-RUIZ, PEDRO J.; FABBRI, MARGHERITA; ARTUSI, CARLO ALBERTO; ZIBETTI, MAURIZIO; LOPIANO, LEONARDO; PILOTTO, ANDREA; BONACINA, SONIA; MORGANTE, FRANCESCA; ZEUNER, KIRSTEN; GRIEWING, CHRISTOPHER; SCHAEFFER, EVA; RODRIGUEZ-PORCEL, FEDERICO; KAUFFMAN, MARCELO; TURCANO, PIERPAOLO; DE OLIVEIRA, LAIS M.; PALERMO, GIOVANNI; SHANKS, EMILY; DEL SORBO, FRANCESCA; BONVEGNA, SALVATORE; SAVICA, RODOLFO; MUNHOZ, RENATO P.; CERAVOLO, ROBERTO; CILIA, ROBERTO; ESPAY, ALBERTO J.

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

JOURNAL OF NEUROLOGY; Año: 2020 vol. 267 p. 2949 - 2960

MARSILI, LUCA; VIZCARRA, JOAQUIN A.; STURCHIO, ANDREA; DWIVEDI, ALOK K.; KEELING, ELIZABETH G.; PATEL, DHIREN; MISHRA, MURLI; FAROOQI, ASHAR; MEROLA, ARISTIDE; FASANO, ALFONSO; MATA, IGNACIO F.; KAUFFMAN, MARCELO A.; ESPAY, ALBERTO J.

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

JOURNAL OF NEUROLOGY; Año: 2020

RODRIGUEZ-QUIROGA, SERGIO; ZAVALA, LUCIA; PÉREZ MATURO, JOSEFINA; GONZÁLEZ-MORÓN, DOLORES; GARRETTO, NELIDA; KAUFFMAN, MARCELO A.

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

Movement Disorders Clinical Practice; Año: 2020 vol. 7 p. 332 - 334

ESPAY, ALBERTO J.; KALIA, LORRAINE V.; GAN-OR, ZIV; WILLIAMS-GRAY, CAROLINE H.; BEDARD, PHILIPPE L.; ROWE, STEVEN M.; MORGANTE, FRANCESCA; FASANO, ALFONSO; STECHER, BENJAMIN; KAUFFMAN, MARCELO A.; FARRER, MATTHEW J.; COFFEY, CHRIS S.; SCHWARZSCHILD, MICHAEL A.; SHERER, TODD; POSTUMA, RONALD B.; STRAFELLA, ANTONIO P.; SINGLETON, ANDREW B.; BARKER, ROGER A.; KIEBURTZ, KARL; OLANOW, C. WARREN; LOZANO, ANDRES; KORDOWER, JEFFREY H.; CEDARBAUM, JESSE M.; BRUNDIN, PATRIK; STANDAERT, DAVID G.; LANG, ANTHONY E.

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

NEUROLOGY; Año: 2020 vol. 94 p. 481 - 494

COHEN, LEILA; MANÍN, ANALISA; MEDINA, NANCY; RODRÍGUEZ-QUIROGA, SERGIO; GONZÁLEZ-MORÓN, DOLORES; ROSALES, JULIETA; AMARTINO, HERNAN; SPECOLA, NORMA; CÓRDOBA, MARTA; KAUFFMAN, MARCELO; VEGA, PATRICIA

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

ANNALS OF HUMAN GENETICS; Año: 2020 vol. 84 p. 11 - 28

SALINAS, VALERIA; VEGA, PATRICIA; PICCIRILLI, MARÍA VICTORIA; CHICCO, CARLA; CIRAOLO, CARLOS; CHRISTIANSEN, SILVIA; CONSALVO, DAMIÁN; PEREZ-MATURO, JOSEFINA; MEDINA, NANCY; GONZÁLEZ-MORÓN, DOLORES; NOVARO, VIRGINIA; PERRONE, CECILIA; GARCÍA, MARÍA DEL CARMEN; AGOSTA, GUILLERMO; SILVA, WALTER; KAUFFMAN, MARCELO

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

EUROPEAN JOURNAL OF MEDICAL GENETICS; Año: 2019 vol. 62

PEREZ MATURO, JOSEFINA; VEGA, PATRICIA; MEDINA, NANCY; SALINAS, VALERIA; PAUNI, MICAELA; AGOSTA, GUILLERMO; MUNTADAS RAUSEI, JAVIER; KAUFFMAN, MARCELO

Inferring parental gonadal mosaicism in LMNA ‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; Año: 2019 vol. 179 p. 1074 - 1076

MEROLA, ARISTIDE; DWIVEDI, ALOK K.; SHAIKH, AASEF G.; TAREEN, TAMOUR KHAN; DA PRAT, GUSTAVO A.; KAUFFMAN, MARCELO A.; HAMPF, JENNIE; MAHAJAN, ABHIMANYU; MARSILI, LUCA; JANKOVIC, JOSEPH; COMELLA, CYNTHIA L.; BERMAN, BRIAN D.; PERLMUTTER, JOEL S.; JINNAH, HYDER A.; ESPAY, ALBERTO J.

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

JOURNAL OF NEUROLOGY; Año: 2019 vol. 266 p. 1844 - 1851

ABERASTURY, MARINA; FERNÁNDEZ, ROMINA; CÓRDOBA, MARTA; COMAS, BETIANA; PERALTA, MARTÍN; AGOSTA, GUILLERMO; KAUFFMAN, MARCELO; SILVA, WALTER

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

EPILEPTIC DISORDERS; Año: 2019 vol. 21 p. 42 - 47

ESPAY, ALBERTO J.; VIZCARRA, JOAQUIN A.; MARSILI, LUCA; LANG, ANTHONY E.; SIMON, DAVID K.; MEROLA, ARISTIDE; JOSEPHS, KEITH A.; FASANO, ALFONSO; MORGANTE, FRANCESCA; SAVICA, RODOLFO; GREENAMYRE, J. TIMOTHY; CAMBI, FRANCA; YAMASAKI, TRITIA R.; TANNER, CAROLINE M.; GAN-OR, ZIV; LITVAN, IRENE; MATA, IGNACIO F.; ZABETIAN, CYRUS P.; BRUNDIN, PATRIK; FERNANDEZ, HUBERT H.; STANDAERT, DAVID G.; KAUFFMAN, MARCELO A.; SCHWARZSCHILD, MICHAEL A.; SARDI, S. PABLO; SHERER, TODD; PERRY, GEORGE; LEVERENZ, JAMES B.

Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases

NEUROLOGY; Año: 2019 vol. 92 p. 329 - 337

ARTUSI, CARLO ALBERTO; DWIVEDI, ALOK K.; ROMAGNOLO, ALBERTO; PAL, GIAN; KAUFFMAN, MARCELO; MATA, IGNACIO; PATEL, DHIREN; VIZCARRA, JOAQUIN A.; DUKER, ANDREW; MARSILI, LUCA; CHEERAN, BINITH; WOO, DANIEL; CONTARINO, MARIA FIORELLA; VERHAGEN, LEONARD; LOPIANO, LEONARDO; ESPAY, ALBERTO J.; FASANO, ALFONSO; MEROLA, ARISTIDE

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

JAMA network open; Año: 2019 vol. 2

MIRCHI, AMYTICE; PELLETIER, FÉLIXE; TRAN, LUAN T.; KELLER, STEPHANIE; BRAVERMAN, NANCY; KAUFFMAN, MARCELO; BERNARD, GENEVIÈVE

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

PEDIATRIC NEUROLOGY; Lugar: Amsterdam; Año: 2018

CÓRDOBA, MARTA; RODRIGUEZ-QUIROGA, SERGIO ALEJANDRO; VEGA, PATRICIA ANALÍA; SALINAS, VALERIA; PEREZ-MATURO, JOSEFINA; AMARTINO, HERNÁN; VÁSQUEZ-DUSEFANTE, CECILIA; MEDINA, NANCY; GONZÁLEZ-MORÓN, DOLORES; KAUFFMAN, MARCELO ANDRÉS

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

PLOS ONE; Año: 2018 vol. 13

RODRIGUEZ-QUIROGA, SERGIO; GONZALEZ-MORON, DOLORES; ESPAY, ALBERTO J; KAUFFMAN, MARCELO A

Holmes tremor-like phenotype in DYT1 dystonia

Movement Disorders Clinical Practice; Año: 2018

KOILE, DANIEL; CORDOBA, MARTA; DE SOUSA SERRO, MAXIMILIANO; KAUFFMAN, MARCELO ANDRES; YANKILEVICH, PATRICIO

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

BMC BIOINFORMATICS; Lugar: Londres; Año: 2018 vol. 19

GAMELEIRA, FERNANDO TENÓRIO; ALÚCIO, KARINA TORRES; DE PAIVA, MARIA LUÍSA MAIA NOBRE; DE LIMA CARLOS, KATHLEEN CAROLINE; DE LIMA, KEDMA MAYARA; GAMELEIRA, MARIANA HOLANDA; KAUFFMAN, MARCELO A.; ESPAY, ALBERTO J.

Epileptic chorea: Another window into neural networks?

JOURNAL OF THE NEUROLOGICAL SCIENCES; Año: 2018 vol. 394 p. 138 - 140

SAFFIE, PAULA; KAUFFMAN, MARCELO A.; FERNANDEZ, JOSE MANUEL; ACOSTA, IGNACIO; ESPAY, ALBERTO J.; DE LA CERDA, ANDRÉS

Teaching Video Neuro Images: Spastic ataxia syndrome

NEUROLOGY; Año: 2017 vol. 89 p. 178 - 179

GONZÁLEZ-MORÓN, DOLORES; VISHNOPOLSKA, SEBASTIÁN; CONSALVO, DAMIÁN; MEDINA, NANCY; MARTI, MARCELO; CÓRDOBA, MARTA; VAZQUEZ-DUSEFANTE, CECILIA; CLAVERIE, SANTIAGO; RODRÍGUEZ-QUIROGA, SERGIO ALEJANDRO; VEGA, PATRICIA; SILVA, WALTER; KOCHEN, SILVIA; KAUFFMAN, MARCELO ANDRÉS

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

PLOS ONE; Año: 2017 vol. 12

ESPAY A; MEROLA A; KAUFFMAN MARCELO; LANG A

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

MOVEMENT DISORDERS; Lugar: New York; Año: 2017 vol. 32 p. 319 - 324

KAUFFMAN M

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

Neurologia Argentina; Año: 2016 vol. 8 p. 143 - 144

SAENZ-FARRET M; RAMIREZ-GOMEZ CC; KAUFFMAN MARCELO; MICHELI F

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

JOURNAL OF THE NEUROLOGICAL SCIENCES; Lugar: Amsterdam; Año: 2016

GARCIA AM; ABREVAYA S; KAZONO G; CORDOBA MARTA; KAUFFMAN MARCELO; PAUTASSI R; SEDENO L; IBANEZ A

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

JOURNAL OF MEDICAL GENETICS; Año: 2016 vol. 54 p. 114 - 124

CORDOBA MARTA; RODRIGUEZ S; GONZALEZ MORON DOLORES; MEDINA NANCY; KAUFFMAN MARCELO

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

CLINICAL GENETICS; Año: 2015 vol. 87 p. 293 - 295

ZUBIRI V; CORDOBA MARTA; KAUFFMAN MARCELO

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

Neurologia Argentina; Año: 2015 vol. 7 p. 171 - 175

KAUFFMAN MARCELO

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

Neurologia Argentina; Año: 2015 vol. 7 p. 129 - 130

MAYORGA L; KAUFFMAN MARCELO; ROQUE M

Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification.

MITOCHONDRIAL DNA; Año: 2015 vol. 26 p. 1 - 4

RODRIGUEZ S; ROSALES J; KAUFFMAN MARCELO

Timely diagnosis of Wilson's disease using whole exome sequencing.

PARKINSONISM & RELATED DISORDERS; Lugar: Amsterdam; Año: 2015 vol. 21 p. 1375 - 1377

RODRIGUEZ S; CORDOBA MARTA; GONZALEZ MORON DOLORES; KAUFFMAN MARCELO

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

GENETICAL RESEARCH; Año: 2015 vol. 97

NEMIROVSKY SERGIO; CORDOBA MARTA; GONZALEZ MORON DOLORES; MARTI MARCELO; VAZQUEZ MARTIN; TURJANSKY ADRIAN; KAUFFMAN MARCELO

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

PLOS ONE; Lugar: San Francisco; Año: 2015 vol. 10

CORDOBA MARTA; RODRIGUEZ S; GONZALEZ MORON DOLORES; MEDINA NANCY; KAUFFMAN MARCELO

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

CLINICAL GENETICS; Año: 2014

CORDOBA MARTA; RODRIGUEZ S; GATTO EMILIA; KAUFFMAN MARCELO

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

NEUROLOGY; Lugar: Philadelphia; Año: 2014 vol. 15 p. 287 - 288

CORDOBA MARTA; GONZALEZ MORON DOLORES; RODRIGUEZ S; KAUFFMAN MARCELO

Neurología genómica personalizada: el futuro es ahora

REVISTA DE NEUROLOGIA; Lugar: Barcelona; Año: 2014 vol. 6 p. 127 - 136

RODRIGUEZ S; GONZALEZ MORON DOLORES; GARRETTO N; KAUFFMAN MARCELO

Huntington's disease masquerading as spinocerebellar ataxia

BMJ Case Reports; Año: 2013 vol. 2013

RODRIGUEZ S; GONZALEZ MORON DOLORES; ARAKAKI T; GARRETTO N; KAUFFMAN MARCELO

AMPLIO ESPECTRO FENOTÍPICO DE LA SCA-3

MEDICINA-BUENOS AIRES; Lugar: Buenos Aires; Año: 2013

GONZALEZ MORON DOLORES; BUERI J; KAUFFMAN MARCELO

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

BMJ Case Reports; Año: 2013 p. 1 - 3

HIROSE S; KAUFFMAN MARCELO

SCN1A testing for epilepsy: application in clinical practice.

EPILEPSIA; Lugar: Londres; Año: 2013 vol. 54 p. 946 - 952

CORDOBA MARTA; CONSALVO DAMIAN; GONZALEZ MORON DOLORES; KOCHEN SILVIA; KAUFFMAN MARCELO

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

MOLECULAR BIOLOGY REPORTS; Lugar: Berlin; Año: 2012 vol. 39 p. 10615 - 10619

PRINCICH J; CONSALVO DAMIAN; KAUFFMAN MARCELO; SEIFER GUSTAVO; BLENKMANN A; KOCHEN SILVIA

Contribución de las imágenes de resonancia magnética por tensor de difusión al diagnóstico de displasias corticales focales

REVISTA DE NEUROLOGIA; Lugar: Barcelona; Año: 2012 vol. 54 p. 453 - 460

KAUFFMAN MARCELO; GONZALEZ MORON DOLORES; CONSALVO DAMIAN; WESTERGAARD GASTON; VAZQUEZ MARTIN; MANCINI ESTEFANIA; TARATUTO ANA LIA; REY RAUL; KOCHEN SILVIA

Diagnosis of mitochondrial disorders applying massive pyrosequencing

MOLECULAR BIOLOGY REPORTS; Lugar: Berlin; Año: 2012 vol. 39 p. 6655 - 6660

KAUFFMAN MARCELO; GONZALEZ MORON DOLORES; GARCEA ORLANDO; VILLA ANDRES MARIA

TNFSFR1A R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina

MOLECULAR BIOLOGY REPORTS; Año: 2012 vol. 39 p. 117 - 121

KAUFFMAN MARCELO; GONZALEZ MORON DOLORES; CONSALVO DAMIAN; KOCHEN SILVIA

Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup

AMERICAN JOURNAL OF THE MEDICAL SCIENCES; Año: 2012 vol. 343 p. 332 - 333

CONSALVO DAMIAN; KAUFFMAN MARCELO; ODDO SILVIA; REY RAUL; KOCHEN SILVIA

Alteraciones extrahipocámpicas en epilepsia temporal

Neurología Argentina; Año: 2012 vol. 4 p. 53 - 58

KAUFFMAN MARCELO

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

Neurología Argentina; Año: 2012 vol. 4 p. 1 - 2

KAUFFMAN MARCELO

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

Neurología Argentina; Año: 2012

PAPAYANNIS CRISTINA; CONSALVO DAMIAN; KAUFFMAN MARCELO; SEIFER GUSTAVO; ODDO SILVIA; D ALESSIO LUCIANA; SAIDON PATRICIA; KOCHEN SILVIA

Malformations of cortical development and epilepsy in adult patients

SEIZURE : THE JOURNAL OF THE BRITISH EPILEPSY ASSOCIATION.; Lugar: Londres; Año: 2012 vol. 21 p. 377 - 384

ABAROA L; GARRETTO N; KAUFFMAN MARCELO; GONZALEZ MORON DOLORES; FIGUEREDO M; SZLAGO M; METMAN L

Myoclonus and angiokeratomas in adult galactosialidosis

MOVEMENT DISORDERS; Año: 2011 vol. 26 p. 756 - 757

KAUFFMAN MARCELO; STERIN-PRYNC AIDA; PAPOUCHADO MARIANA; GONZALEZ ELISEO; VIDAL ALEJANDRO; GROSSBERG S; DIEZ ROBERTO; FERRO HUGO

Immunogenicity of an interferon-beta1a product

INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY; Año: 2011 vol. 24 p. 499 - 504

GONZALEZ MORON DOLORES; KAUFFMAN MARCELO; GARCEA ORLANDO; VILLA ANDRES MARIA

Nuevos factores genéticos en la esclerosis múltiple: mutación R92Q en el gen TNFRSF1A y el síndrome autoinflamatorio TRAPS

Neurología Argentina; Año: 2010 vol. 2 p. 29 - 34

KAUFFMAN MARCELO; CONSALVO DAMIAN; GONZALEZ MORON DOLORES; PUJOL VIRGINIA; KOCHEN SILVIA

ApoE varepsilon4 genotype and the age at onset of temporal lobe epilepsy: A case-control study and meta-analysis.

EPILEPSY RESEARCH; Año: 2010 vol. 90 p. 234 - 239

PUJOL VIRGINIA; KAUFFMAN MARCELO

Cardiopatías y arritmias en patologías neuromusculares hereditarias. Un desafío diagnóstico para el cardiólogo

Electrofisiologia y Arritmias; Año: 2010 vol. 3 p. 55 - 62

KAUFFMAN MARCELO; VILLA ANDRES MARIA

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

JOURNAL OF NEUROIMMUNOLOGY; Año: 2009 vol. 212 p. 151 - 151

D ALESSIO LUCIANA; GIAGANTE BRENDA; PAPAYANNIS CRISTINA; ODDO SILVIA; SOLIS PATRICIA; DONNOLI VICENTE; KAUFFMAN MARCELO; CONSALVO DAMIAN; ZIEHER LUIS; KOCHEN SILVIA

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

EPILEPSY & BEHAVIOR (PRINT); Año: 2009 vol. 14 p. 604 - 609

KAUFFMAN MARCELO; CONSALVO DAMIAN; GONZALEZ MORON DOLORES; AGUIRRE FLORENCIA; D ALESSIO LUCIANA; KOCHEN SILVIA

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

EPILEPSY RESEARCH; Año: 2009 vol. 85 p. 231 - 234

LAHOZ MONICA; KAUFFMAN MARCELO; VIDAL ALEJANDRO; PAPOUCHADO MARIANA; DIEZ ROBERTO; NAGLE CARLOS

Pharmacokinetics and pharmacodynamics of interferon beta 1a in Cebus apella

JOURNAL OF MEDICAL PRIMATOLOGY; Año: 2009 vol. 38 p. 187 - 191

KAUFFMAN MARCELO; PEREIRA DE SILVA NAHUEL; CONSALVO DAMIAN; KOCHEN SILVIA

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

EPILEPSY RESEARCH; Año: 2009 vol. 85 p. 311 - 313

KAUFFMAN MARCELO; YANKILEVICH PATRICIO; BARRERO PAOLA; BELLO RICARDO; MARANGUNICH LAURA; CRISCUOLO MARCELO; DIEZ ROBERTO; STERIN-PRYNC AIDA

Whole genome analysis of the action of interferon-beta

INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS; Año: 2009 vol. 47 p. 328 - 357

MELCON CARLOS; CONSALVO DAMIAN; CENTURION ESTELA; PAPAYANNIS CRISTINA; KAUFFMAN MARCELO; KOCHEN SILVIA

Heterotopía en banda o doble corteza. Reporte de caso.

Neurología Argentina; Año: 2009 vol. 1 p. 47 - 49

KAUFFMAN MARCELO; CONSALVO DAMIAN; GONZALEZ MORON DOLORES; PUJOL VIRGINIA; SOLIS PATRICIA; ODDO SILVIA; LOMLOMDJIAN CAROLINA; KOCHEN SILVIA

El alelo e4 de la apolipoproteína e modificaría el “período silente” del desarrollo de la epilepsia mesial temporal con esclerosis del hipocampo

Neurología Argentina; Lugar: Buenos Aires; Año: 2009 vol. 1 p. 148 - 158

ARBERAS CLAUDIA; AGUIRRE FLORENCIA; BERARDO ANDRES; GONZALEZ MORON DOLORES; KAUFFMAN MARCELO; MAIOLA RICARDO; MELAMUD LUCIANA; PIRRA LAURA; SEIFER GUSTAVO

Guías de Neurogenética

REVISTA NEUROLOGICA ARGENTINA (ED. IMPRESA); Año: 2008

PAPAYANNIS CRISTINA; CONSALVO DAMIAN; SEIFER GUSTAVO; KAUFFMAN MARCELO; SILVA WALTER; KOCHEN SILVIA

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

ACTA NEUROLOGICA SCANDINAVICA; Año: 2008 vol. 118 p. 313 - 319

KAUFFMAN MARCELO; LEVY ESTRELLA; CONSALVO DAMIAN; MORDOH JOSE; KOCHEN SILVIA

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

SEIZURE : THE JOURNAL OF THE BRITISH EPILEPSY ASSOCIATION.; Año: 2008 vol. 17 p. 567 - 571

KAUFFMAN MARCELO; CONSALVO DAMIAN; GONZALEZ MORON DOLORES; KOCHEN SILVIA

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

DISEASE MARKERS; Año: 2008 vol. 24 p. 135 - 140

DI GIROLAMO GUILLERMO; KAUFFMAN MARCELO; GONZALEZ ELISEO; PAPOUCHADO MARIANA; STERIN-PRYNC AIDA; DIEZ ROBERTO

Bioequivalence of Two Subcutaneous Pharmaceutical Products of Interferon Beta 1a

ARZNEIMITTEL FORSCHUNG DRUG RESEARCH; Año: 2008 vol. 58 p. 193 - 198

STERIN-PRYNC A; YANKILEVICH PATRICIO; BARRERO P; BELLO RICARDO; MARANGUNICH LAURA; VIDAL ALEJANDRO; CRISCUOLO MARCELO; KAUFFMAN MARCELO; DIEZ ROBERTO

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

INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS; Año: 2008 vol. 46 p. 64 - 71

KAUFFMAN MARCELO; GONZALEZ MORON DOLORES; CONSALVO DAMIAN; KOCHEN SILVIA

Association study between interleukin 1b gene and epileptic disorders: a meta analysis and huge review

GENETICS IN MEDICINE; Año: 2008 vol. 10 p. 83 - 88

KAUFFMAN MARCELO; CONSALVO DAMIAN; GONZALEZ MORON DOLORES; AGUIRRE FLORENCIA; D ALESSIO LUCIANA; KOCHEN SILVIA

GENOTIPIFICACIÓN DEL GEN DEL RECAPTADOR DE LA SEROTONINA Y RESPUESTA AL TRATAMIENTO EN LA EPILEPSIA MESIAL TEMPORAL CON ESCLEROSIS DEL HIPOCAMPO ¿PRONOSTICO MOLECULAR?

REVISTA NEUROLOGICA ARGENTINA (ED. IMPRESA); Año: 2008

KAUFFMAN MARCELO; CONSALVO DAMIAN; KOCHEN SILVIA

Genetica de la Epilepsia del Lobulo Temporal

Psicofarmacologia; Año: 2007 vol. 7 p. 16 - 21

KAUFFMAN MARCELO; GONZALEZ MORON DOLORES; SANDOVAL GUSTAVO; SICA ROBERTO; GARCEA ORLANDO; VILLA ANDRES MARIA

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

MEDICINA (BUENOS AIRES); Año: 2007 vol. 67 p. 436 - 438

KAUFFMAN MARCELO; GONZALEZ MORON DOLORES; BRUNO VERÓNICA

How accurate are bedside hearing test?

NEUROLOGY; Año: 2007 vol. 69 p. 1382 - 1382

KAUFFMAN MARCELO; CONSALVO DAMIAN; GONZALEZ MORON DOLORES; KOCHEN SILVIA

Asociación entre Alelos Transcripcionalmente Deficientes del gen de la Prodinorfina y el Desarrollo de Epilepsia del Lóbulo Temporal

REVISTA NEUROLOGICA ARGENTINA (ED. IMPRESA); Año: 2007 vol. 32 p. 40 - 46

KAUFFMAN MARCELO; GONZALEZ MORON DOLORES; SANDOVAL GUSTAVO; SICA ROBERTO; GARCEA ORLANDO; VILLA ANDRES MARIA

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

MEDICINA-BUENOS AIRES; Año: 2007 vol. 67 p. 436 - 438

KAUFFMAN MARCELO; LEVY ESTRELLA; CONSALVO DAMIAN; MORDOH JOSE; KOCHEN SILVIA

El Polimorfismo G1465A del Gen GABBR1 es un Marcador de Riesgo para el desarrollo de Epilepsia Mesial Temporal con Esclerosis del Hipocampo.

REVISTA NEUROLOGICA ARGENTINA (ED. IMPRESA); Año: 2006 vol. 31 p. 25 - 31