Clinical and neuropathological features of progressive supranuclear palsy in Leucine rich repeat kinase (LRRK2) G2019S mutation carriers
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DOI: 10.1002/mds.27225
Abstract: Niraj Kumar, MD, DM, Aditya Murgai, MD, DM, Taline Naranian, RN, Mandar Jog, MD, FRCPC, Alfonso Fasano, MD, PhD Department of Clinical Neurological Sciences, Western University, London, ON, Canada Morton and Gloria Shulman Movement Disorders… read more here.
Keywords: supranuclear palsy; palsy leucine; features progressive; neuropathological features ... See more keywords
Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism
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DOI: 10.3390/ijms23105842
Abstract: Deficient acid β-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic adults to infants… read more here.
Keywords: disease; neuropathological features; features gaucher; disease gaucher ... See more keywords
Mutant Ataxin-2 Expression in Aged Animals Aggravates Neuropathological Features Associated with Spinocerebellar Ataxia Type 2
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DOI: 10.3390/ijms231911896
Abstract: Spinocerebellar ataxia type 2 (SCA2) is a rare autosomal, dominantly inherited disease, in which the affected individuals have a disease onset around their third life decade. The molecular mechanisms underlying SCA2 are not yet completely… read more here.
Keywords: mutant ataxin; neuropathological features; ataxia type; spinocerebellar ataxia ... See more keywords