Artículos en Revistas CientíficasPapers in Scientific Journals
Novel Variants in ATM Causing Mild Ataxia‐Telangiectasia : From Benchside to Bedside and Back Again
Perez Maturo J, Gonzalez Cid M, Zavala L, Rodriguez Quiroga S, Kauffman MA
Mov Disord Clin Pract, 2020 — Journal Article
When does postural instability appear in monogenic parkinsonisms? An individual-patient meta-analysis
Marsili L, Vizcarra JA, Sturchio A, Dwivedi AK, Keeling EG, Patel D, Mishra M, Farooqi A, Merola A, Fasano A, Mata IF, Kauffman MA, Espay AJ
J. Neurol., 2020 — Journal Article
Benign versus malignant Parkinson disease: the unexpected silver lining of motor complications
Merola A, Romagnolo A, Dwivedi AK, Padovani A, Berg D, Garcia-Ruiz PJ, Fabbri M, Artusi CA, Zibetti M, Lopiano L, … (9 more) … , de Oliveira LM, Palermo G, Shanks E, Del Sorbo F, Bonvegna S, Savica R, Munhoz RP, Ceravolo R, Cilia R, Espay AJ
J. Neurol., 2020 — Journal Article
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
Perez Maturo J, Zavala L, Vega P, González-Morón D, Medina N, Salinas V, Rosales J, Córdoba M, Arakaki T, Garretto N, Rodríguez-Quiroga S, Kauffman MA
J. Hum. Genet., 2020 — Journal Article
How have advances in genetic technology modified movement disorder nosology?
Sturchio A, Marsili L, Mahajan A, Grimberg MB, Kauffman MA, Espay AJ
Eur. J. Neurol., 2020 — Journal Article
A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
Rodriguez-Quiroga S, Zavala L, Pérez Maturo J, González-Morón D, Garretto N, Kauffman MA
Mov Disord Clin Pract, 2020 — Journal Article
Disease modification and biomarker development in Parkinson disease: Revision or reconstruction?
Espay AJ, Kalia LV, Gan-Or Z, Williams-Gray CH, Bedard PL, Rowe SM, Morgante F, Fasano A, Stecher B, Kauffman MA, … (6 more) … , Singleton AB, Barker RA, Kieburtz K, Olanow CW, Lozano A, Kordower JH, Cedarbaum JM, Brundin P, Standaert DG, Lang AE
Neurology, 2020 — Journal Article
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years
Cohen L, Manín A, Medina N, Rodríguez-Quiroga S, González-Morón D, Rosales J, Amartino H, Specola N, Córdoba M, Kauffman M, Vega P
Ann. Hum. Genet., 2020 — Journal Article
[Contribution of diffusion tensor magnetic resonance imaging to the diagnosis of focal cortical dysplasias]
Princich JP, Consalvo D, Kauffman M, Seifer G, Blenkmann A, Kochen S
Rev. Neurol., 2012 — Journal Article
Holmes Tremor-Like Phenotype in DYT1 Dystonia
Rodriguez-Quiroga S, Gonzalez-Moron D, Espay AJ, Kauffman MA
Mov Disord Clin Pract, 2018 — Journal Article
Re: How accurate are bedside hearing tests?
Kauffman MA, Moron DG, Bruno V
Neurology, 2007 — Journal Article
Is tumor necrosis factor-376A promoter polymorphism associated with susceptibility to multiple sclerosis?
Kauffman MA, Morón DG, Sandoval G, Sica RE, Garcea O, Villa AM
Medicina , 2007 — Journal Article
Two recombinant human interferon-beta 1a pharmaceutical preparations produce a similar transcriptional response determined using whole genome microarray analysis
Prync AE, Yankilevich P, Barrero PR, Bello R, Marangunich L, Vidal A, Criscuolo M, Benasayag L, Famulari AL, Domínguez RO, Kauffman MA, Diez RA
Int. J. Clin. Pharmacol. Ther., 2008 — Journal Article
Psychotic disorders in Argentine patients with refractory temporal lobe epilepsy: a case-control study
D’Alessio L, Giagante B, Papayannis C, Oddo S, Silva W, Solís P, Donnoli V, Kauffman M, Consalvo D, Zieher LM, Kochen S
Epilepsy Behav., 2009 — Journal Article
Myoclonus and angiokeratomas in adult galactosialidosis
Abaroa L, Garretto NS, Arakaki T, Kauffman M, Moron DG, Figueredo AM, Szlago M, Metman LV
Mov. Disord., 2011 — Journal Article
SCN1A testing for epilepsy: application in clinical practice
Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM, Kauffman M, Tan NC, Lowenstein DH, Sisodiya SM, Ottman R, Berkovic SF, Genetics Commission of the International League Against Epilepsy
Epilepsia, 2013 — Journal Article
Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis
Artusi CA, Dwivedi AK, Romagnolo A, Pal G, Kauffman M, Mata I, Patel D, Vizcarra JA, Duker A, Marsili L, Cheeran B, Woo D, Contarino MF, Verhagen L, Lopiano L, Espay AJ, Fasano A, Merola A
JAMA Netw Open, 2019 — Journal Article
DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family
Aberastury M, Fernández R, Córdoba M, Comas B, Peralta M, Agosta G, Kauffman M, Silva W
Epileptic Disord., 2019 — Journal Article
Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling
Perez Maturo J, Vega P, Medina N, Salinas V, Pauni M, Agosta G, Muntadas Rausei J, Kauffman M
Am. J. Med. Genet. A, 2019 — Journal Article
GABABR1 (G1465A) gene variation and temporal lobe epilepsy controversy: new evidence
Kauffman MA, Levy EM, Consalvo D, Mordoh J, Kochen S
Seizure, 2008 — Journal Article
Transcriptionally less active prodynorphin promoter alleles are associated with temporal lobe epilepsy: a case-control study and meta-analysis
Kauffman MA, Consalvo D, Gonzalez MD, Kochen S
Dis. Markers, 2008 — Journal Article
Clinical spectrum and difficulties in management of hypothalamic hamartoma in a developing country
Papayannis CE, Consalvo D, Seifer G, Kauffman MA, Silva W, Kochen S
Acta Neurol. Scand., 2008 — Journal Article
Bioequivalence of two subcutaneous pharmaceutical products of interferon beta la
Di Girolamo G, Kauffman MA, González E, Papouchado M, Ramírez A, Keller G, Carbonetto C, Dabsys S, Vidal A, Sterin-Prync A, Diez RA
Arzneimittelforschung, 2008 — Journal Article
Pharmacokinetics and pharmacodynamics of interferon beta 1a in Cebus apella
Lahoz M, Kauffman MA, Carfagnini J, Vidal A, Papouchado M, Sterin-Prync A, Diez RA, Nagle C
J. Med. Primatol., 2009 — Journal Article
ApoE epsilon4 is not associated with posictal confusion in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
Kauffman MA, Pereira-de-Silva N, Consalvo D, Kochen S
Epilepsy Res., 2009 — Journal Article
Serotonin transporter gene variation and refractory mesial temporal epilepsy with hippocampal sclerosis
Kauffman MA, Consalvo D, Gonzalez-Morón D, Aguirre F, D’Alessio L, Kochen S
Epilepsy Res., 2009 — Journal Article
Comment to Tumour necrosis factor alpha gene -376 polymorphism in Hungarian patients with primary progressive multiple sclerosis
Kauffman MA, Villa AM
J. Neuroimmunol., 2009 — Journal Article
Whole genome analysis of the action of interferon-beta
Kauffman MA, Yankilevich P, Barrero P, Bello R, Marangunich L, Vidal A, Criscuolo M, Diez RA, Sterin Prync A
Int. J. Clin. Pharmacol. Ther., 2009 — Journal Article
ApoE epsilon4 genotype and the age at onset of temporal lobe epilepsy: a case-control study and meta-analysis
Kauffman MA, Consalvo D, Moron DG, Lereis VP, Kochen S
Epilepsy Res., 2010 — Journal Article
TNFRSF1A [corrected] R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina
Kauffman MA, Gonzalez-Morón D, Garcea O, Villa AM
Mol. Biol. Rep., 2012 — Journal Article
Immunogenicity of an interferon-beta1a product
Kauffman MA, Sterin-Prync A, Papouchado M, González E, Vidal AJ, Grossberg SE, Chuppa S, Odoriz B, Vrech C, Diez RA, Ferro HH
Int. J. Immunopathol. Pharmacol., 2011 — Journal Article
Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup
Kauffman MA, Gonzalez-Morón D, Consalvo D, Kochen S
Am. J. Med. Sci., 2012 — Journal Article
Diagnosis of mitochondrial disorders applying massive pyrosequencing
Kauffman MA, Gonzlez-Morón D, Consalvo D, Westergaard G, Vazquez M, Mancini E, Taratuto AL, Rey R, Kochen S
Mol. Biol. Rep., 2012 — Journal Article
Malformations of cortical development and epilepsy in adult patients
Papayannis CE, Consalvo D, Kauffman MA, Seifer G, Oddo S, D’Alessio L, Saidon P, Kochen S
Seizure, 2012 — Journal Article
SLC6A4 gene variants and temporal lobe epilepsy susceptibility: a meta-analysis
Córdoba M, Consalvo D, Moron DG, Kochen S, Kauffman MA
Mol. Biol. Rep., 2012 — Journal Article
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis
Gonzalez-Moron D, Bueri J, Kauffman MA
BMJ Case Rep., 2013 — Journal Article
Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia
Córdoba M, Rodriguez S, González Morón D, Medina N, Kauffman MA
Clin. Genet., 2015 — Journal Article
Biomarker-driven phenotyping in Parkinson’s disease: A translational missing link in disease-modifying clinical trials
Espay AJ, Schwarzschild MA, Tanner CM, Fernandez HH, Simon DK, Leverenz JB, Merola A, Chen-Plotkin A, Brundin P, Kauffman MA, Erro R, Kieburtz K, Woo D, Macklin EA, Standaert DG, Lang AE
Mov. Disord., 2017 — Journal Article
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy
Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, … (7 more) … , Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G
Pediatr. Neurol., 2018 — Journal Article
Huntington’s disease masquerading as spinocerebellar ataxia
Rodríguez-Quiroga SA, Gonzalez-Morón D, Garretto N, Kauffman MA
BMJ Case Rep., 2013 — Journal Article
[The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia]
Rodríguez-Quiroga SA, González-Morón D, Arakaki T, Garreto N, Kauffman MA
Medicina , 2013 — Journal Article
Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
Cordoba M, Rodriguez-Quiroga S, Gatto EM, Alurralde A, Kauffman MA
Neurology, 2014 — Journal Article
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder
Nemirovsky SI, Córdoba M, Zaiat JJ, Completa SP, Vega PA, González-Morón D, Medina NM, Fabbro M, Romero S, Brun B, Revale S, Ogara MF, Pecci A, Marti M, Vazquez M, Turjanski A, Kauffman MA
PLoS One, 2015 — Journal Article
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic
Rodríguez-Quiroga SA, Cordoba M, González-Morón D, Medina N, Vega P, Dusefante CV, Arakaki T, Garretto NS, Kauffman MA
Genet. Res. , 2015 — Journal Article
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification
Mayorga L, Laurito SR, Loos MA, Eiroa HD, de Pinho S, Lubieniecki F, Arroyo HA, Pereyra MF, Kauffman MA, Roqué M
Mitochondrial DNA A DNA Mapp Seq Anal, 2016 — Journal Article
Timely diagnosis of Wilson’s disease using whole exome sequencing
Rodríguez-Quiroga SA, Rosales J, Arakaki T, Cordoba M, González-Morón D, Medina N, Garretto NS, Kauffman MA
Parkinsonism Relat. Disord., 2015 — Journal Article
Gerstmann-Sträussler-Scheinker syndrome in an Argentinean family due to mutationat codon 117 of the Prion Protein Gene (PrPA117V)
Saenz-Farret M, Ramirez-Gomez CC, Araoz-Olivos N, Carrillo-Canedo H, Aldinio V, Montilla-Uzcategui VG, Kauffman M, Micheli F
J. Neurol. Sci., 2016 — Journal Article
The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to STUB1 mutations
García AM, Abrevaya S, Kozono G, Cordero IG, Córdoba M, Kauffman MA, Pautassi R, Muñoz E, Sedeño L, Ibáñez A
J. Med. Genet., 2017 — Journal Article
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders
González-Morón D, Vishnopolska S, Consalvo D, Medina N, Marti M, Córdoba M, Vazquez-Dusefante C, Claverie S, Rodríguez-Quiroga SA, Vega P, Silva W, Kochen S, Kauffman MA
PLoS One, 2017 — Journal Article
GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases
Koile D, Cordoba M, de Sousa Serro M, Kauffman MA, Yankilevich P
BMC Bioinformatics, 2018 — Journal Article
Epileptic chorea: Another window into neural networks?
Gameleira FT, Alúcio KT, de Paiva MLMN, de Lima Carlos KC, de Lima KM, Gameleira MH, Kauffman MA, Espay AJ
J. Neurol. Sci., 2018 — Journal Article
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
Salinas V, Vega P, Piccirilli MV, Chicco C, Ciraolo C, Christiansen S, Consalvo D, Perez-Maturo J, Medina N, González-Morón D, Novaro V, Perrone C, García MDC, Agosta G, Silva W, Kauffman M
Eur. J. Med. Genet., 2019 — Journal Article
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach
Córdoba M, Rodriguez-Quiroga SA, Vega PA, Salinas V, Perez-Maturo J, Amartino H, Vásquez-Dusefante C, Medina N, González-Morón D, Kauffman MA
PLoS One, 2018 — Journal Article
Teaching Video NeuroImages: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS
Saffie P, Kauffman MA, Fernandez JM, Acosta I, Espay AJ, de la Cerda A
Neurology, 2017 — Journal Article
Head tremor at disease onset: an ataxic phenotype of cervical dystonia
Merola A, Dwivedi AK, Shaikh AG, Tareen TK, Da Prat GA, Kauffman MA, Hampf J, Mahajan A, Marsili L, Jankovic J, Comella CL, Berman BD, Perlmutter JS, Jinnah HA, Espay AJ
J. Neurol., 2019 — Journal Article
Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases
Espay AJ, Vizcarra JA, Marsili L, Lang AE, Simon DK, Merola A, Josephs KA, Fasano A, Morgante F, Savica R, … (7 more) … , Zabetian CP, Brundin P, Fernandez HH, Standaert DG, Kauffman MA, Schwarzschild MA, Sardi SP, Sherer T, Perry G, Leverenz JB
Neurology, 2019 — Journal Article
Association study between interleukin 1 beta gene and epileptic disorders: a HuGe review and meta-analysis
Kauffman MA, Moron DG, Consalvo D, Bello R, Kochen S
Genet. Med., 2008 — Journal Article
