Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease

(2018) B. Schormair et al.   CLINICAL GENETICS

Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance

(2018) Allyson L. Anding et al.   CURRENT BIOLOGY

Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans

(2017) Mittal J. Jasoliya et al.   HUMAN MOLECULAR GENETICS

Vps13 and Cdc31/centrin: Puzzling partners in membrane traffic

(2017) Margaret D. Myers et al.   JOURNAL OF CELL BIOLOGY

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force

(2017) Connie Marras et al.   MOVEMENT DISORDERS

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

(2017) Matthis Synofzik et al.   MOVEMENT DISORDERS

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Drosophila Vps13 Is Required for Protein Homeostasis in the Brain

(2017) Jan J. Vonk et al.   PLoS One

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

Genetics of mitochondrial dysfunction and infertility

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

Dominant optic atrophy

(2016) Bo Y. Chun et al.   CURRENT OPINION IN OPHTHALMOLOGY

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

(2016) Bart P van de Warrenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

(2016) Rolph Pfundt et al.   GENETICS IN MEDICINE

Inner membrane fusion mediates spatial distribution of axonal mitochondria

(2016) Yiyi Yu et al.   Scientific Reports

Oxidative stress in inherited mitochondrial diseases

(2015) Genki Hayashi et al.   FREE RADICAL BIOLOGY AND MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore

(2015) Santhanam Shanmughapriya et al.   MOLECULAR CELL

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

(2015) Slavé Petrovski et al.   PLoS Genetics

‘Behr syndrome’ with OPA1 compound heterozygote mutations

(2014) Valerio Carelli et al.   BRAIN

Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance

(2014) Josef Finsterer   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Genes and Genetic Testing in Hereditary Ataxias

(2014) Erin Sandford et al.   Genes

Independent Pathways Downstream of the Wnd/DLK MAPKKK Regulate Synaptic Structure, Axonal Transport, and Injury Signaling

(2013) S. Klinedinst et al.   JOURNAL OF NEUROSCIENCE

Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

(2012) Koen L. I. van Gassen et al.   BRAIN

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Reviewing the genetic causes of spastic-ataxias

(2012) S. T. de Bot et al.   NEUROLOGY

Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis

(2011) Akiyuki Tomiyasu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

(2011) Tyler Mark Pierson et al.   PLoS Genetics

Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts

(2010) Anne Grünewald et al.   PLoS One

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

(2009) André Mégarbané et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deletions in theVPS13B(COH1) gene as a cause of Cohen syndrome

(2009) I. Balikova et al.   HUMAN MUTATION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants ofCOH1

(2008) Wenke Seifert et al.   HUMAN MUTATION