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

Reviewing the genetic causes of spastic-ataxias

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

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

(2011) NA Schlipf et al.   CLINICAL GENETICS

An optimized protocol for the acute isolation of human microglia from autopsy brain samples

(2011) Marta Olah et al.   GLIA

The HSPB8-BAG3 chaperone complex is upregulated in astrocytes in the human brain affected by protein aggregation diseases

(2011) K. Seidel et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Axonal inclusions in spinocerebellar ataxia type 3

(2010) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects

(2010) Tobias Warnecke et al.   MOVEMENT DISORDERS

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Genetic interaction between the m -AAA protease isoenzymes reveals novel roles in cerebellar degeneration

(2009) Paola Martinelli et al.   HUMAN MOLECULAR GENETICS

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