Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

(2011) Reena Prity Murmu et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

COMPASSS (COMplex PAttern of Sequence Search Software), a simple and effective tool for mining complex motifs in whole genomes

(2010) Giuseppe Maccari et al.   BIOINFORMATICS

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene

(2010) Ivana Ticha et al.   BREAST CANCER RESEARCH AND TREATMENT

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions

(2010) Angelika C. Roehl et al.   HUMAN MUTATION

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

(2010) Laura Southgate et al.   NEUROGENETICS

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

(2010) Mikołaj Słabicki et al.   PLOS BIOLOGY

SPG11mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

(2009) Hanna Örlén et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Alu repeats increase local recombination rates

(2009) David J Witherspoon et al.   BMC GENOMICS

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

(2009) C Crimella et al.   JOURNAL OF MEDICAL GENETICS

Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum

(2009) Sung-Min Kim et al.   JOURNAL OF NEUROLOGY

SPG11 spastic paraplegia

(2009) Mathieu Anheim et al.   JOURNAL OF NEUROLOGY

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

(2009) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Two Molecular Pathways (NMD and ERAD) Contribute to a Genetic Epilepsy Associated with the GABAA Receptor GABRA1 PTC Mutation, 975delC, S326fs328X

(2009) J.-Q. Kang et al.   JOURNAL OF NEUROSCIENCE

The impact of retrotransposons on human genome evolution

(2009) Richard Cordaux et al.   NATURE REVIEWS GENETICS

SPG11 – the most common type of recessive spastic paraplegia in Norway?

(2008) A. K. Erichsen et al.   ACTA NEUROLOGICA SCANDINAVICA

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia

(2008) Amir Boukhris et al.   ARCHIVES OF NEUROLOGY

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

(2008) C. Paisan-Ruiz et al.   EUROPEAN JOURNAL OF NEUROLOGY

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

(2008) T. Pippucci et al.   EUROPEAN JOURNAL OF NEUROLOGY

Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion

(2008) Paola S. Denora et al.   HUMAN MUTATION

Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum

(2008) M-J Lee et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum

(2008) Shu-sheng Liao et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A common sequence motif associated with recombination hot spots and genome instability in humans

(2008) Simon Myers et al.   NATURE GENETICS

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization

(2008) Peter Bauer et al.   NEUROGENETICS

SPG11 compound mutations in spastic paraparesis with thin corpus callosum

(2008) L. Samaranch et al.   NEUROLOGY

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

(2008) C. Paisan-Ruiz et al.   NEUROLOGY