Analysis ofLMNB1Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Replication stress and mechanisms of CNV formation

(2012) Martin F Arlt et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia

(2012) Brent L. Fogel et al.   MOVEMENT DISORDERS

Candidate Screening of the TRPC3 Gene in Cerebellar Ataxia

(2011) Esther B. E. Becker et al.   CEREBELLUM

Origins and Breakpoint Analyses of Copy Number Variations: Up Close and Personal

(2011) E. van Binsbergen   CYTOGENETIC AND GENOME RESEARCH

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

(2011) Michael M. Dos Santos et al.   JOURNAL OF NEUROLOGY

Adult-Onset Autosomal Dominant Leukodystrophy: Linking Nuclear Envelope to Myelin

(2011) S.-T. Lin et al.   JOURNAL OF NEUROSCIENCE

Genomic rearrangement in three dimensions

(2011) PJ Hastings et al.   NATURE BIOTECHNOLOGY

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

(2011) Claudia M B Carvalho et al.   NATURE GENETICS

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

(2011) Jens Schuster et al.   NEUROGENETICS

Structural Variation in the Human Genome and its Role in Disease

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

Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy

(2010) Pietro Guaraldi et al.   AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL

PMP22 expression in dermal nerve myelin from patients with CMT1A

(2009) I. Katona et al.   BRAIN

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

(2009) A. Brussino et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy

(2009) A Brussino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2009) Feng Zhang et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

(2008) J. Sundblom et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

A Novel Duplication Confirms the Involvement of 5q23.2 in Autosomal Dominant Leukodystrophy

(2008) Inge A. Meijer et al.   ARCHIVES OF NEUROLOGY

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

(2008) M. Bauters et al.   GENOME RESEARCH

Replication stalling at unstable inverted repeats: Interplay between DNA hairpins and fork stabilizing proteins

(2008) I. Voineagu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MMEJ repair of double-strand breaks (director’s cut): deleted sequences and alternative endings

(2008) Mitch McVey et al.   TRENDS IN GENETICS