Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

(2013) Michael A. Gonzalez et al.   HUMAN MUTATION

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

(2012) F. Lamari et al.   JOURNAL OF INHERITED METABOLIC DISEASE

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

(2012) M. Deschauer et al.   JOURNAL OF NEUROLOGY

A candidate gene for autoimmune myasthenia gravis

(2012) G. Landoure et al.   NEUROLOGY

New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

(2012) P. Hogarth et al.   NEUROLOGY

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

(2011) Monika B. Hartig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine

(2009) L. G. Biesecker et al.   GENOME RESEARCH

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

(2009) K. G. Meilleur et al.   NEUROGENETICS

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

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