Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations

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

(2014) Karen E. Murphy et al.   BRAIN

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

(2014) Alisdair McNeill et al.   BRAIN

Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease

(2014) Lucilla Parnetti et al.   MOVEMENT DISORDERS

iPSC-Derived Dopamine Neurons Reveal Differences between Monozygotic Twins Discordant for Parkinson’s Disease

(2014) Chris M. Woodard et al.   Cell Reports

Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease andGBAHeterozygotes

(2014) Roy N. Alcalay et al.   JAMA Neurology

Knowledge of and Interest in Genetic Results Among Parkinson Disease Patients and Caregivers

(2013) Karina Sakanaka et al.   Journal of Genetic Counseling

Parkinson disease phenotype in Ashkenazi jews with and withoutLRRK2G2019S mutations

(2013) Roy N. Alcalay et al.   MOVEMENT DISORDERS

Interplay of LRRK2 with chaperone-mediated autophagy

(2013) Samantha J Orenstein et al.   NATURE NEUROSCIENCE

RAB7L1 Interacts with LRRK2 to Modify Intraneuronal Protein Sorting and Parkinson’s Disease Risk

(2013) David A. MacLeod et al.   NEURON

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

(2012) Matthew E. Gegg et al.   ANNALS OF NEUROLOGY

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

(2012) Raquel Duran et al.   MOVEMENT DISORDERS

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

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

Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing

(2011) Valerie Cullen et al.   ANNALS OF NEUROLOGY

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

(2011) Joseph R. Mazzulli et al.   CELL

A mutation in SCARB2 is a modifier in gaucher disease

(2011) Arash Velayati et al.   HUMAN MUTATION

Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

(2011) Pilar Giraldo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The enigma of the E326K mutation in acid β-glucocerebrosidase

(2011) Mia Horowitz et al.   MOLECULAR GENETICS AND METABOLISM

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

(2011) Arnold J. Reuser et al.   MOLECULAR GENETICS AND METABOLISM

CNS expression of glucocerebrosidase corrects  -synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

(2011) S. P. Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The incidence of Parkinsonism in patients with type 1 Gaucher disease: Data from the ICGG Gaucher Registry

(2010) Barry Rosenbloom et al.   BLOOD CELLS MOLECULES AND DISEASES

Association of Glucocerebrosidase Mutations With Dementia With Lewy Bodies

(2009) Lorraine N. Clark et al.   ARCHIVES OF NEUROLOGY

Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease

(2009) Jun Mitsui et al.   ARCHIVES OF NEUROLOGY

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Cerebrospinal fluid β-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies

(2009) L. Parnetti et al.   NEUROBIOLOGY OF DISEASE

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

(2009) Kallirhoe Kalinderi et al.   NEUROSCIENCE LETTERS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

(2008) Ozlem Goker-Alpan et al.   ARCHIVES OF NEUROLOGY

An improved high-throughput dried blood spot screening method for Gaucher disease

(2008) Petra Olivova et al.   CLINICA CHIMICA ACTA

Multiplex Enzyme Assay Screening of Dried Blood Spots for Lysosomal Storage Disorders by Using Tandem Mass Spectrometry

(2008) X. K. Zhang et al.   CLINICAL CHEMISTRY

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

(2008) W. C. Nichols et al.   NEUROLOGY

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

(2008) Z. Gan-Or et al.   NEUROLOGY

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

(2007) Jose Bras et al.   NEUROBIOLOGY OF AGING