All Stories

  1. Holmes Tremor-Like Phenotype in DYT1 Dystonia

    Article • Movement Disorders Clinical Practice, February 2018, Wiley

    Dr Marcelo A Kauffman

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

    Article • Neurología Argentina, July 2015, Elsevier

    Dr Marcelo A Kauffman

  3. Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

    Article • PLoS ONE, February 2015, PLOS

    Dr Marcelo A Kauffman

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

    Article • Clinical Genetics, July 2014, Wiley

    Dr Marcelo A Kauffman

  5. Neurología genómica personalizada: el futuro es ahora

    Article • Neurología Argentina, July 2014, Elsevier

    Dr Marcelo A Kauffman

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

    Article • Neurología Argentina, April 2014, Elsevier

    Dr Marcelo A Kauffman

  7. SCN1Atesting for epilepsy: Application in clinical practice

    Article • Epilepsia, April 2013, Wiley

    Dr Marcelo A Kauffman

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

    Article • Neurología Argentina, January 2013, Elsevier

    Dr Marcelo A Kauffman

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

    Article • Molecular Biology Reports, October 2012, Springer Science + Business Media

    Dr Marcelo A Kauffman

  10. Alteraciones extrahipocámpicas en epilepsia temporal mesial con esclerosis del hipocampo

    Article • Neurología Argentina, April 2012, Elsevier

    Dr Marcelo A Kauffman

  11. Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup

    Article • The American Journal of the Medical Sciences, April 2012, Elsevier

    Dr Marcelo A Kauffman

  12. Diagnosis of mitochondrial disorders applying massive pyrosequencing

    Article • Molecular Biology Reports, February 2012, Springer Science + Business Media

    Dr Marcelo A Kauffman

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

    Article • Neurología Argentina, January 2012, Elsevier

    Dr Marcelo A Kauffman

  14. Bio equivalence of Two Subcutaneous Pharmaceutical Products of Interferon Beta la

    Article • Arzneimittelforschung, December 2011, Thieme Publishing Group

    Dr Marcelo A Kauffman

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

    Article • Molecular Biology Reports, May 2011, Springer Science + Business Media

    Dr Marcelo A Kauffman

  16. Myoclonus and angiokeratomas in adult galactosialidosis

    Article • Movement Disorders, February 2011, Wiley

    Dr Marcelo A Kauffman

  17. Clinical effectiveness of an inteferon beta 1a biosimilar: Results from an open-label, multicenter, observational study

    Article • Journal of Bioequivalence & Bioavailability, January 2011, OMICS Publishing Group

    Dr Marcelo A Kauffman

  18. ApoE ɛ4 genotype and the age at onset of temporal lobe epilepsy: A case–control study and meta-analysis

    Article • Epilepsy Research, August 2010, Elsevier

    Dr Marcelo A Kauffman

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

    Article • Neurología Argentina, April 2010, Elsevier

    Dr Marcelo A Kauffman

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

    Article • Epilepsy Research, August 2009, Elsevier

    Dr Marcelo A Kauffman

  21. ApoE ɛ4 is not associated with posictal confusion in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

    Article • Epilepsy Research, August 2009, Elsevier

    Dr Marcelo A Kauffman

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

    Article • Journal of Neuroimmunology, July 2009, Elsevier

    Dr Marcelo A Kauffman

  23. Pharmacokinetics and pharmacodynamics of interferon beta 1a inCebus apella

    Article • Journal of Medical Primatology, June 2009, Wiley

    Dr Marcelo A Kauffman

  24. Psychotic disorders in Argentine patients with refractory temporal lobe epilepsy: A case–control study

    Article • Epilepsy & Behavior, April 2009, Elsevier

    Dr Marcelo A Kauffman

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

    Article • Seizure, September 2008, Elsevier

    Dr Marcelo A Kauffman

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

    Article • Genetics in Medicine, February 2008, Springer Science + Business Media

    Dr Marcelo A Kauffman

  27. Transcriptionally Less Active Prodynorphin Promoter Alleles are Associated with Temporal Lobe Epilepsy: A Case-Control Study and Meta-Analysis

    Article • Disease Markers, January 2008, Hindawi Publishing Corporation

    Dr Marcelo A Kauffman