High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

A polymorphic Alu insertion that mediates distinct disease-associated deletions

(2016) Amir Jahic et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Decoding NF1 Intragenic Copy-Number Variations

(2015) Meng-Chang Hsiao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

(2015) Celeste Montecchiani et al.   BRAIN

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

(2015) Shen Gu et al.   HUMAN MOLECULAR GENETICS

Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes

(2015) Yu-sheng Li et al.   JOURNAL OF CLINICAL NEUROSCIENCE

MFN2deletion of exons 7 and 8: founder mutation in the UK population

(2015) Aisling S. Carr et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

(2014) Philip M. Boone et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

(2014) Hiroyuki Ishiura et al.   JOURNAL OF HUMAN GENETICS

The role of microhomology in genomic structural variation

(2014) Diego Ottaviani et al.   TRENDS IN GENETICS

Sequence analysis of 17NRXN1deletions

(2013) Louise Kristine Enggaard Hoeffding et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

(2013) Susanne T de Bot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2013) G. Yoon et al.   NEUROGENETICS

Mosaic Copy Number Variation in Human Neurons

(2013) M. J. McConnell et al.   SCIENCE

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

(2012) Maria Conceição Pereira et al.   GENETICS IN MEDICINE

Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

(2011) G. Piluso et al.   CLINICAL CHEMISTRY

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

(2011) Peter Elfferich et al.   NEUROGENETICS

A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans

(2011) Chip Stewart et al.   PLoS Genetics

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

(2010) Sylvia Quemener et al.   HUMAN MUTATION

Alu-Alurecombination underlies the vast majority of largeVHLgermline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

(2009) Gerlind Franke et al.   HUMAN MUTATION

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

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

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

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

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