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JAMA Neurology, ISSN 2168-6149, 12/2014, Volume 71, Issue 12, pp. 1535 - 1539
IMPORTANCE: Mutations in SNCA, LRRK2, VPS35, EIF4G1, and DNAJC13 have been implicated in late-onset familial parkinsonism. However, the estimated disease... 
LRRK2 G2019S | RETROMER | DEMENTIA | GENETICS | JEWS | KIN-COHORT | ALPHA-SYNUCLEIN | MUTATIONS | CLINICAL NEUROLOGY | Parkinsonian Disorders - genetics | Penetrance | Humans | Age of Onset
Journal Article
JAMA Neurology, ISSN 2168-6149, 12/2014, Volume 71, Issue 12, p. 1535
  Mutations in SNCA, LRRK2, VPS35, EIF4G1, and DNAJC13 have been implicated in late-onset familial parkinsonism. However, the estimated disease penetrance of... 
Confidence intervals | Pathogens | Parkinsons disease | Genetics | Mutation | Meta-analysis
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2017, Volume 82, Issue 4, pp. 640 - 646
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 05/2019, Volume 20, Issue 1, pp. 95 - 7
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 10/2019, Volume 116, Issue 43, pp. 21780 - 21788
Journal Article
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 12/2018, Volume 9, p. 1021
Chronic alpha-synuclein (SNCA) overexpression is a relatively homogenous and well-defined cause of parkinsonism and dementia. Parkinson's disease (PD), PD with... 
triplication | parkinsonism | BIOMARKER | DISEASE | SNCA DUPLICATION | dementia | NEUROSCIENCES | CLINICAL NEUROLOGY | SNCA | duplication | clinical phenotype | BETA
Journal Article
MOLECULAR BRAIN, ISSN 1756-6606, 11/2019, Volume 12, Issue 1, pp. 1 - 17
We report the identification of a de novo GABRA1 (R214C) variant in a child with epileptic encephalopathy (EE), describe its functional characterization and... 
Epileptic encephalopathy | DYNAMIC MODULATION | ILAE COMMISSION | SUBTYPES | CLASSIFICATION | MECHANISMS | NEUROSCIENCES | BETA | GABA a receptor | EPILEPSIES | GABA(A) RECEPTOR TRAFFICKING | Therapeutic options | Mutation | SUBUNIT
Journal Article
Journal Article
Journal Article
Journal of Psychiatric Research, ISSN 0022-3956, 2013, Volume 47, Issue 9, pp. 1215 - 1221
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 2015, Volume 22, pp. e144 - e144
(2) Humanitas University, Humanitas Clinical and Research Center, Rozzano, Milano, Italy 
Neurology | Genetic research | Genes | Medical genetics
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 2015, Volume 22, pp. e166 - e166
Journal Article
20.