Parkinsonism syndrome in heterozygotes for Niemann–Pick C1

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

Alfredo Ramı́rez, André Heimbach, Jan Gründemann et al. · Nature Genetics · 2006 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +16

Disease and patient characteristics in NP-C patients: findings from an international disease registry

Marc C. Patterson, Eugen Mengel, Frits A. Wijburg et al. · Orphanet Journal of Rare Diseases · 2013 · 197 citations · Full text

Medicine, Clinical Sciences, Neurology +14

The p.L302P mutation in the lysosomal enzyme gene <i>SMPD1</i> is a risk factor for Parkinson disease

Ziv Gan‐Or, Laurie J. Ozelius, Anat Bar‐Shira et al. · Neurology · 2013 · 178 citations · Full text

Life Sciences, Genetics, Neurology +17

Niemann‐<scp>P</scp>ick disease type <scp>C</scp>1 predominantly involving the frontotemporal region, with cortical and brainstem <scp>L</scp>ewy bodies: An autopsy case

Yoichi Chiba, Hiraku Komori, Shiro Takei et al. · Neuropathology · 2013 · 51 citations

Medicine, Neurology, Neuroscience +17

Heterozygous Niemann-Pick disease type C presenting with tremor

Keith A. Josephs, Joseph Y. Matsumoto, Noralane M. Lindor · Neurology · 2004 · 48 citations

Medicine, Neurology, Neuroscience +16