Analysis of age-related changes in psychosine metabolism in the human brain

Endo-lysosomal and autophagic dysfunction: a driving factor in Alzheimer's disease?

(2017) Lauren S. Whyte et al.   JOURNAL OF NEUROCHEMISTRY

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

(2017) Diana Chang et al.   NATURE GENETICS

Clinical subtypes and genetic heterogeneity

(2016) Rainer von Coelln et al.   CURRENT OPINION IN NEUROLOGY

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease

(2016) Carlos A. Saavedra-Matiz et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies

(2016) Michael S. Marshall et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Newborn screening for Krabbe's disease

(2016) Joseph J. Orsini et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Mechanism of Neuromuscular Dysfunction in Krabbe Disease

(2015) L. Cantuti-Castelvetri et al.   JOURNAL OF NEUROSCIENCE

Gray and white matter imaging: A biomarker for cognitive impairment in early Parkinson's disease?

(2015) Gordon W. Duncan et al.   MOVEMENT DISORDERS

Ageing and Parkinson's disease: Why is advancing age the biggest risk factor?

(2014) Amy Reeve et al.   AGEING RESEARCH REVIEWS

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease

(2014) Karen E. Murphy et al.   BRAIN

Glucocerebrosidase is shaking up the synucleinopathies

(2014) Marina Siebert et al.   BRAIN

The heterogeneity of cognitive symptoms in Parkinson's disease: a meta-analysis

(2013) Christina Tremblay et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The Sphingolipid Psychosine Inhibits Fast Axonal Transport in Krabbe Disease by Activation of GSK3  and Deregulation of Molecular Motors

(2013) L. Cantuti Castelvetri et al.   JOURNAL OF NEUROSCIENCE

Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

(2013) David A. Wenger et al.   MOLECULAR GENETICS AND METABOLISM

White matter abnormalities in Parkinson's disease patients with glucocerebrosidase gene mutations

(2013) Federica Agosta et al.   MOVEMENT DISORDERS

Lysosomal impairment in Parkinson's disease

(2013) Benjamin Dehay et al.   MOVEMENT DISORDERS

Detection of the Neurotoxin Psychosine in Samples of Peripheral Blood: Application in Diagnostics and Follow-up of Krabbe Disease

(2012) Hongling Zhu et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Greater risk of parkinsonism associated with non-N370S GBA1 mutations

(2012) M. J. Barrett et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review

(2012) Rabab Debs et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-  Peptide

(2012) S. Keilani et al.   JOURNAL OF NEUROSCIENCE

Psychosine induces the dephosphorylation of neurofilaments by deregulation of PP1 and PP2A phosphatases

(2012) Ludovico Cantuti-Castelvetri et al.   NEUROBIOLOGY OF DISEASE

Cognitive performance of GBA mutation carriers with early-onset PD: The CORE-PD study

(2012) R. N. Alcalay et al.   NEUROLOGY

Axonopathy is a compounding factor in the pathogenesis of Krabbe disease

(2011) Ludovico Cantuti Castelvetri et al.   ACTA NEUROPATHOLOGICA

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

(2011) Tamar Shachar et al.   MOVEMENT DISORDERS

The risk of Parkinson’s disease in type 1 Gaucher disease

(2010) Gilberto Bultron et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy

(2009) K. Ohmi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA