The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

AnnTools: a comprehensive and versatile annotation toolkit for genomic variants

(2012) Vladimir Makarov et al.   BIOINFORMATICS

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome

(2012) Siamak Karkheiran et al.   HUMAN GENETICS

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

(2012) Claire R. Hughes et al.   JOURNAL OF CLINICAL INVESTIGATION

Recessive mutations inMCM4/PRKDCcause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair

(2012) Jillian P Casey et al.   JOURNAL OF MEDICAL GENETICS

Reduction of Synaptojanin 1 Ameliorates Synaptic and Behavioral Impairments in a Mouse Model of Alzheimer's Disease

(2012) L. B. J. McIntire et al.   JOURNAL OF NEUROSCIENCE

LRRK2 Controls an EndoA Phosphorylation Cycle in Synaptic Endocytosis

(2012) Samer Matta et al.   NEURON

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability

(2012) Çiğdem Köroğlu et al.   PARKINSONISM & RELATED DISORDERS

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

The Use of Next-Generation Sequencing in Movement Disorders

(2012) Catharine E. Krebs et al.   Frontiers in Genetics

Recent Advances in the Genetics of Parkinson's Disease

(2011) Ian Martin et al.   Annual Review of Genomics and Human Genetics

Synaptic vesicle trafficking and Parkinson's disease

(2011) Giovanni Esposito et al.   Developmental Neurobiology

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Exome sequencing: a transformative technology

(2011) Andrew B Singleton   LANCET NEUROLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Coordinate Regulation of Neurite Outgrowth by LRRK2 and Its Interactor, Rab5

(2011) Hye Young Heo et al.   Experimental Neurobiology

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

Increased Expression of α-Synuclein Reduces Neurotransmitter Release by Inhibiting Synaptic Vesicle Reclustering after Endocytosis

(2010) Venu M. Nemani et al.   NEURON

 -Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro

(2010) J. Burre et al.   SCIENCE

Molecular Circuitry of Endocytosis at Nerve Terminals

(2009) Jeremy Dittman et al.   Annual Review of Cell and Developmental Biology

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The genetics of Parkinson's syndromes: a critical review

(2009) John Hardy et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

SH3 Domains from a Subset of BAR Proteins Define a Ubl-Binding Domain and Implicate Parkin in Synaptic Ubiquitination

(2009) Jean-François Trempe et al.   MOLECULAR CELL

Consanguinity, human evolution, and complex diseases

(2009) A. H. Bittles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Parkinson's disease: clinical features and diagnosis

(2008) J Jankovic   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

(2008) Sarah Camargos et al.   LANCET NEUROLOGY

Oligomeric amyloid-β peptide disrupts phosphatidylinositol-4,5-bisphosphate metabolism

(2008) Diego E Berman et al.   NATURE NEUROSCIENCE

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

(2008) S. V. Voronov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of postsynaptic AMPA responses by synaptojanin 1

(2008) L.-W. Gong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA