1. A Family with Late‐Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas. Issue 3 (11th March 2020) Authors: Rodriguez‐Quiroga, Sergio; Zavala, Lucia; Pérez Maturo, Josefina; González‐Morón, Dolores; Garretto, Nelida; Kauffman, Marcelo A. Journal: Movement disorders clinical practice Issue: Volume 7:Issue 3(2020) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biomarker‐driven phenotyping in Parkinson's disease: A translational missing link in disease‐modifying clinical trials. Issue 3 (24th February 2017) Authors: Espay, Alberto J.; Schwarzschild, Michael A.; Tanner, Caroline M.; Fernandez, Hubert H.; Simon, David K.; Leverenz, James B.; Merola, Aristide; Chen‐Plotkin, Alice; Brundin, Patrik; Kauffman, Marcelo A.; Erro, Roberto; Kieburtz, Karl; Woo, Daniel; Macklin, Eric A.; Standaert, David G.; Lang, Anth... Other Names: Espay Alberto guestEditor.; Erro Roberto guestEditor. Journal: Movement disorders Issue: Volume 32:Issue 3(2017) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Disease modification and biomarker development in Parkinson disease: Revision or reconstruction?. (17th March 2020) Authors: 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.; S... Journal: Neurology Issue: Volume 94:Number 11(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Holmes Tremor‐Like Phenotype in DYT1 Dystonia. Issue 2 (7th February 2018) Authors: Rodriguez‐Quiroga, Sergio; Gonzalez‐Moron, Dolores; Espay, Alberto J.; Kauffman, Marcelo A. Journal: Movement disorders clinical practice Issue: Volume 5:Issue 2(2018) Page Start: 206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification. (3rd July 2016) Authors: Mayorga, Lía; Laurito, Sergio R.; Loos, Mariana A.; Eiroa, Hernán D.; de Pinho, Silvina; Lubieniecki, Fabiana; Arroyo, Hugo A.; Pereyra, Marcela F.; Kauffman, Marcelo A.; Roqué, María Journal: Mitochondrial DNA Issue: Volume 27:Number 4(2016) Page Start: 2864 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases. (12th February 2019) Authors: 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,... Journal: Neurology Issue: Volume 92:Number 7(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Teaching Video NeuroImages: Spastic ataxia syndrome. (3rd October 2017) Authors: Saffie, Paula; Kauffman, Marcelo A.; Fernandez, Jose Manuel; Acosta, Ignacio; Espay, Alberto J.; de la Cerda, Andrés Journal: Neurology Issue: Volume 89:Number 14(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The odyssey of complex neurogenetic disorders: From undetermined to positive. Issue 4 (20th October 2020) Authors: 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; Consa... Other Names: Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 4(2020) Page Start: 876 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Timely diagnosis of Wilson's disease using whole exome sequencing. Issue 11 (November 2015) Authors: Rodríguez-Quiroga, Sergio A.; Rosales, Julieta; Arakaki, Tomoko; Cordoba, Marta; González-Morón, Dolores; Medina, Nancy; Garretto, Nélida S.; Kauffman, Marcelo A. Journal: Parkinsonism & related disorders Issue: Volume 21:Issue 11(2015) Page Start: 1375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Transcriptionally Less Active Prodynorphin Promoter Alleles are Associated with Temporal Lobe Epilepsy: A Case-Control Study and Meta-Analysis. Issue 3 (2008) Authors: Kauffman, Marcelo A.; Consalvo, Damián; Gonzalez, Moron Dolores; Kochen, Silvia Journal: Disease markers Issue: Volume 24:Issue 3(2008) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗