SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

SPG7 mutations are a common cause of undiagnosed ataxia

(2015) G. Pfeffer et al.   NEUROLOGY

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

(2014) Gerald Pfeffer et al.   BRAIN

Diversity of ARSACS Mutations in French-Canadians

(2014) I. Thiffault et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

(2014) Daniele Orsucci et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

(2014) B. P. C. van de Warrenburg et al.   EUROPEAN JOURNAL OF NEUROLOGY

Molecular aspects of hereditary spastic paraplegia

(2014) Anne Noreau et al.   EXPERIMENTAL CELL RESEARCH

Early-onset optic neuropathy as initial clinical presentation in SPG7

(2014) Christian Marcotulli et al.   JOURNAL OF NEUROLOGY

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia

(2013) Hiroshi Doi et al.   INTERNAL MEDICINE

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

(2013) Kishore R. Kumar et al.   JOURNAL OF NEUROLOGY

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy

(2013) Loretta Racis et al.   JOURNAL OF NEUROLOGY

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

(2013) G. Yoon et al.   NEUROGENETICS

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

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

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

(2012) Stephan Klebe et al.   BRAIN

SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

(2012) E Sánchez-Ferrero et al.   CLINICAL GENETICS

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

(2012) Joshua Hersheson et al.   HUMAN MUTATION

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

(2012) Richard H. Roxburgh et al.   JOURNAL OF NEUROLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

(2008) F. Brugman et al.   NEUROLOGY