Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Challenges in clinical interpretation of microduplications detected by array CGH analysis

(2010) Pawel Stankiewicz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Introductory comments on special section-Genomic microduplications: When adding may equal subtracting

(2010) Carlos A. Bacino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia

(2010) R. Battini et al.   EUROPEAN JOURNAL OF NEUROLOGY

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

(2010) Seong H. Park et al.   JOURNAL OF CLINICAL INVESTIGATION

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

(2010) S. T. de Bot et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

(2010) Claudia Gonzaga-Jauregui et al.   NEUROGENETICS

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Alterations of Zinc Transporter Proteins ZnT-1, ZnT-4 and ZnT-6 in Preclinical Alzheimer's Disease Brain

(2009) Ganna Lyubartseva et al.   BRAIN PATHOLOGY

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

(2009) Marian AJ Weterman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia

(2009) Kirsten Svenstrup et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

(2009) Angela Magariello et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

(2009) Ayelet Erez et al.   NEUROGENETICS

Dementia in SPG4 hereditary spastic paraplegia: Clinical, genetic, and neuropathologic evidence

(2009) S. Murphy et al.   NEUROLOGY

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Abundant expression of zinc transporters in the amyloid plaques of Alzheimer's disease brain

(2008) Li-Hong Zhang et al.   BRAIN RESEARCH BULLETIN

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

(2008) Moneef Shoukier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

(2008) Antonina Roll-Mecak et al.   NATURE

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll et al.   NATURE GENETICS

HSP60IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

(2008) C.A.A. Hewamadduma et al.   NEUROLOGY

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion

(2008) James W. Connell et al.   TRAFFIC