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.