
Clinical Trials + Research
led by Professor Mark Walterfang at the Royal Melbourne Hospital
Imaging of tau deposits in adults with Niemann-Pick type C disease: a case-control study.
May 2019
Villemagne, V. L., D. Velakoulis, V. Dore, S. Bozinoski, C. L. Masters, C. C. Rowe and M. Walterfang (2019). "Imaging of tau deposits in adults with Niemann-Pick type C disease: a case-control study." Eur J Nucl Med Mol Imaging. In press.
Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management
February 2019
Rego, T., S. Farrand, A. M. Y. Goh, D. Eratne, W. Kelso, S. Mangelsdorf, D. Velakoulis and M. Walterfang (2019). "Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management." CNS Drugs 33(2): 125-142.
Miglustat in Niemann-Pick disease type C patients: a review.
August 2018
Pineda, M., M. Walterfang and M. C. Patterson (2018). "Miglustat in Niemann-Pick disease type C patients: a review." Orphanet J Rare Dis 13(1): 140.
Consensus clinical management guidelines for Niemann-Pick disease type C.
April 2018
Geberhiwot, T., A. Moro, A. Dardis, U. Ramaswami, S. Sirrs, M. P. Marfa, M. T. Vanier, M. Walterfang, S. Bolton, C. Dawson, B. Heron, M. Stampfer, J. Imrie, C. Hendriksz, P. Gissen, E. Crushell, M. J. Coll, Y. Nadjar, H. Klunemann, E. Mengel, M. Hrebicek, S. A. Jones, D. Ory, B. Bembi, M. Patterson and R. International Niemann-Pick Disease (2018). "Consensus clinical management guidelines for Niemann-Pick disease type C." Orphanet J Rare Dis 13(1): 50.
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat
July 2017
Bowman, E. A., D. Velakoulis, P. Desmond and M. Walterfang (2018). "Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat." JIMD Rep 39: 39-43.
Systematic review of psychiatric signs in Niemann-Pick disease type C
July 2017
Bonnot, O., H. H. Klunemann, C. Velten, J. V. Torres Martin and M. Walterfang (2018). "Systematic review of psychiatric signs in Niemann-Pick disease type C." World J Biol Psychiatry: 1-13.
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
December 2017
Patterson, M. C., P. Clayton, P. Gissen, M. Anheim, P. Bauer, O. Bonnot, A. Dardis, C. Dionisi-Vici, H. H. Klunemann, P. Latour, C. M. Lourenco, D. S. Ory, A. Parker, M. Pocovi, M. Strupp, M. T. Vanier, M. Walterfang and T. Marquardt (2017). "Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update." Neurol Clin Pract 7(6): 499-511.
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
December 2016
Hendriksz, C. J., M. Anheim, P. Bauer, O. Bonnot, A. Chakrapani, J. C. Corvol, T. J. de Koning, A. Degtyareva, C. Dionisi-Vici, S. Doss, T. Duning, P. Giunti, R. Iodice, T. Johnston, D. Kelly, H. H. Klunemann, S. Lorenzl, A. Padovani, M. Pocovi, M. Synofzik, A. Terblanche, F. Then Bergh, M. Topcu, C. Tranchant, M. Walterfang, C. Velten and S. A. Kolb (2017). "The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease." Curr Med Res Opin 33(5): 877-890.
Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C
October 2012
Walterfang, M., L. A. Abel, P. Desmond, M. C. Fahey, E. A. Bowman and D. Velakoulis (2013). "Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C." Mol Genet Metab 108(1): 85-89.
Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures
November 2012
Abel, L. A., E. A. Bowman, D. Velakoulis, M. C. Fahey, P. Desmond, M. D. Macfarlane, J. C. Looi, C. L. Adamson and M. Walterfang (2012). "Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures." PLoS One 7(11): e50947.
White and gray matter alterations in adults with Niemann-Pick disease type CA cross-sectional study
July 2010
Walterfang, M., M. Fahey, P. Desmond, A. Wood, M. L. Seal, C. Steward, C. Adamson, C. Kokkinos, M. Fietz and D. Velakoulis (2010). "White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study." Neurology 75(1): 49-56.