Identification of a LargeDNAJB2Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

(2016) Suzanne Lesage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

(2016) Vincenzo Lupo et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

(2015) Elena Sánchez et al.   ASN Neuro

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

(2014) Maria Schabhüttl et al.   JOURNAL OF NEUROLOGY

Hereditary motor and sensory neuropathies or Charcot–Marie–Tooth diseases: An update

(2014) Meriem Tazir et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum

(2014) B. Gess et al.   NEUROLOGY

Allosteric Heat Shock Protein 70 Inhibitors Rapidly Rescue Synaptic Plasticity Deficits by Reducing Aberrant Tau

(2013) Jose Abisambra et al.   BIOLOGICAL PSYCHIATRY

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

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

Serum Brain-Derived Neurotrophic Factor Levels in Different Neurological Diseases

(2013) Mariacarla Ventriglia et al.   Biomed Research International

Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS

(2012) Anne-Katrin Emde et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Imbalance of Hsp70 family variants fosters tau accumulation

(2012) Umesh K. Jinwal et al.   FASEB JOURNAL

Tau deficiency induces parkinsonism with dementia by impairing APP-mediated iron export

(2012) Peng Lei et al.   NATURE MEDICINE

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

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

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation

(2011) Sergiu C. Blumen et al.   ANNALS OF NEUROLOGY

Atypical juvenile parkinsonism in a consanguineous SPG15 family

(2011) Julia Schicks et al.   MOVEMENT DISORDERS

DNAJB2 Expression in Normal and Diseased Human and Mouse Skeletal Muscle

(2010) Kristl G. Claeys et al.   AMERICAN JOURNAL OF PATHOLOGY

Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant

(2010) Johanna M. Rose et al.   HUMAN MOLECULAR GENETICS

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

The HSP70 chaperone machinery: J proteins as drivers of functional specificity

(2010) Harm H. Kampinga et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Chaperone networks: Tipping the balance in protein folding diseases

(2010) Cindy Voisine et al.   NEUROBIOLOGY OF DISEASE

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY

Computational analysis of the human HSPH/HSPA/DNAJ family and cloning of a human HSPH/HSPA/DNAJ expression library

(2008) Jurre Hageman et al.   CELL STRESS & CHAPERONES

Parkinson's disease: clinical features and diagnosis

(2008) J Jankovic   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY