SORT1 Mutation Resulting in Sortilin Deficiency and p75NTR Upregulation in a Family With Essential Tremor

Pro-Brain-Derived Neurotrophic Factor Inhibits GABAergic Neurotransmission by Activating Endocytosis and Repression of GABAA Receptors

(2014) B. Riffault et al.   JOURNAL OF NEUROSCIENCE

Essential tremor is not associated with cerebellar Purkinje cell loss

(2014) Claire Symanski et al.   MOVEMENT DISORDERS

Apolipoprotein E and lipid homeostasis in the etiology and treatment of sporadic Alzheimer's disease

(2014) Judes Poirier et al.   NEUROBIOLOGY OF AGING

Genetics of essential tremor: Meta-analysis and review

(2014) G. Kuhlenbaumer et al.   NEUROLOGY

More than Cholesterol Transporters: Lipoprotein Receptors in CNS Function and Neurodegeneration

(2014) Courtney Lane-Donovan et al.   NEURON

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

(2014) Hilal Unal Gulsuner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency

(2013) Wing C. Lee et al.   HUMAN MOLECULAR GENETICS

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

(2013) Jose Felix Martí-Massó et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

The Pro-Neurotrophin Receptor Sortilin Is a Major Neuronal Apolipoprotein E Receptor for Catabolism of Amyloid-  Peptide in the Brain

(2013) A.-S. Carlo et al.   JOURNAL OF NEUROSCIENCE

Sortilin and SorLA Display Distinct Roles in Processing and Trafficking of Amyloid Precursor Protein

(2013) C. Gustafsen et al.   JOURNAL OF NEUROSCIENCE

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

(2012) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Decreased Cerebellar Fiber Density in Cortical Myoclonic Tremor but Not in Essential Tremor

(2012) Arthur W. G. Buijink et al.   CEREBELLUM

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

(2012) S. Thier et al.   NEUROLOGY

Sortilin: a receptor to regulate neuronal viability and function

(2012) Anders Nykjaer et al.   TRENDS IN NEUROSCIENCES

Genetics of Parkinsonʼs disease and essential tremor

(2011) Alexander Zimprich   CURRENT OPINION IN NEUROLOGY

Decrease in Cerebral and Cerebellar Gray Matter in Essential Tremor: A Voxel-Based Morphometric Analysis under 3T MRI

(2011) Bhavani Shankara Bagepally et al.   JOURNAL OF NEUROIMAGING

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry

(2010) Elan D Louis   LANCET NEUROLOGY

Consensus Statement of the Movement Disorder Society on Tremor

(2010) Günther Deuschl et al.   MOVEMENT DISORDERS

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

Sortilin-Mediated Endocytosis Determines Levels of the Frontotemporal Dementia Protein, Progranulin

(2010) Fenghua Hu et al.   NEURON

Cation-Chloride Cotransporters and Neuronal Function

(2009) Peter Blaesse et al.   NEURON

Lysosomal-Associated Protein Multispanning Transmembrane 5 Gene (LAPTM5) Is Associated with Spontaneous Regression of Neuroblastomas

(2009) Jun Inoue et al.   PLoS One

Emerging roles for centromeres in meiosis I chromosome segregation

(2008) Gloria A. Brar et al.   NATURE REVIEWS GENETICS

Total cholesterol and the risk of Parkinson disease

(2008) G. Hu et al.   NEUROLOGY

Correlative gene expression and DNA methylation profiling in lung development nominate new biomarkers in lung cancer

(2007) Rene Cortese et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY