Results 111 to 120 of about 2,680 (134)

Clinical and Biological Determinants of Longitudinal Cognitive Function in Patients With GBA1 Variants and Subthalamic Deep Brain Stimulation. [PDF]

Ann Neurol
Loeffler MA, Klocke P, Wurster I, Lerche S, Cebi I, Gasser T, Gharabaghi A, Brockmann K, Weiss D.   +8 more
europepmc   +1 more source

RETRACTED: A systematic genomic screen of 755 early-onset Parkinson’s patients from the 100,000 Genomes Project increases diagnostic yield and directs clinical pathways

Newbury DF, Sabu N, Hussein ESH, Taylor JC.   +3 more
europepmc   +1 more source

Pathology and Genetics in a Global Cohort of Parkinsonian Disorders.

JAMA Neurol
Wu LY, du Toit T, Georgiades T, Stafford EJ, Levine K, Fang ZH, Jasaityte S, Martinez AG, Cullinane P, De Pablo-Fernandez E, Blauwendraat C, Singleton AB, Scholz SW, Traynor BJ, Wood N, Hardy J, Chinnery P, Houlden H, Cain R, Troakes C, Chelban V, Serrano GE, Gveric D, McLean C, Love S, King A, Robinson AC, Roncaroli F, Shepherd C, Halliday G, Parkkinen L, Morris CM, Smith C, Beach TG, Gentleman S, Warner TT, Lashley T, Jaunmuktane Z, Real R, Morris HR, Global Parkinson’s Genetic Program (GP2).   +40 more
europepmc   +1 more source

Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis. [PDF]

Orphanet J Rare Dis
Liu Y, Luo X, Ranjbar S, Aerts JMFG, van der Lienden M, Dardis A, Fleming RMT.   +6 more
europepmc   +1 more source

Plasma Levels of Food-Derived Metabolites as Biomarkers of Parkinson's Disease. [PDF]

Int J Mol Sci
Dong X, Zheng Y, Tan ETY, Sun QY, Xiao B, Tan EK, Wu YC, Zhou ZD.   +7 more
europepmc   +1 more source

Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration. [PDF]

Mol Neurodegener
Gu M, Zhao J, Deng M, Lin G, Pan X, Lin W, Ma M, Kim J, Byeon SK, Pandey A, Lange LM, Shaw CA, Kim J, Trinh J, Klein C, Kanca O, Shulman JM, Bellen HJ.   +17 more
europepmc   +1 more source

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility. [PDF]

Mov Disord
Parlar SC, Lee Y, Gan-Or Z.
europepmc   +1 more source

Longitudinal Evaluation of Neurological and Sensory Changes in Gaucher Disease: A Prospective Observational Cohort Study (SENOPRO). [PDF]

Med Sci (Basel)
Cerulli Irelli E, Mazzeo A, Fallarino N, Caramia F, Tessari G, Morgillo E, Di Bonaventura C, Turchetta R, Palumbo G, Tullo MG, Mariani L, Nebbioso M, Mancini P, Guariglia C, Giona F.   +14 more
europepmc   +1 more source

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GBA1 Gene Mutations in α-Synucleinopathies—Molecular Mechanisms Underlying Pathology and Their Clinical Significance

International Journal of Molecular Sciences, 2023
Ireneusz Majsterek, Ewa Kucharska, Wioletta Rozpedek-Kaminska   +2 more
exaly  

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

Frontiers in Pediatrics, 2023
Aiqin Hu, Pan Hong
exaly