RNA pathogenesis of the myotonic dystrophies

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1991 • 3,422 citations

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1991 • 2,763 citations

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

1992 • 2,719 citations

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1994 • 1,698 citations

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

1992 • 1,609 citations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

1993 • 1,596 citations

An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

1992 • 1,437 citations

Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

2001 • 1,191 citations

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

1996 • 1,081 citations

Myotonic Dystrophy

2001 • 931 citations

Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy

2000 • 880 citations

Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy

1998 • 800 citations

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

2001 • 768 citations

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

1998 • 764 citations

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

1992 • 721 citations

A Muscleblind Knockout Model for Myotonic Dystrophy

2003 • 718 citations

Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat

2000 • 688 citations

Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy

2002 • 629 citations

Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing

2002 • 592 citations

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.

1995 • 576 citations

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons

2004 • 505 citations

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10

2000 • 502 citations

Muscleblind proteins regulate alternative splicing

2004 • 468 citations

Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

1997 • 443 citations

Myotonic dystrophy type 2

2003 • 435 citations

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells

2002 • 433 citations

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2

2001 • 425 citations

A 10-year study of mortality in a cohort of patients with myotonic dystrophy

1999 • 398 citations

Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy

2001 • 361 citations

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

1996 • 346 citations

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice

1996 • 332 citations

CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus

2001 • 318 citations

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

1995 • 315 citations

Alternative splicing of human insulin receptor messenger RNA

1989 • 312 citations

Decreased Expression of Myotonin-Protein Kinase Messenger RNA and Protein in Adult Form of Myotonic Dystrophy

1993 • 302 citations

Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1

2001 • 272 citations

Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy

2000 • 256 citations

Genetic mapping of a second myotonic dystrophy locus

1998 • 255 citations

Proximal myotonic myopathy

1994 • 252 citations

Age and causes of death in adult-onset myotonic dystrophy

1998 • 248 citations

Myotonic Dystrophy, 2nd Ed.

1990 • 235 citations

Preferential Nucleosome Assembly at DNA Triplet Repeats from the Myotonic Dystrophy Gene

1994 • 235 citations

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities

2001 • 221 citations

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)

2000 • 219 citations

Origin of the expansion mutation in myotonic dystrophy

1993 • 213 citations

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

2001 • 213 citations

Cardiac disease in myotonic dystrophy

1997 • 209 citations

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

2000 • 208 citations

Myotonic dystrophy with no trinucleotide repeat expansion

1994 • 200 citations

Novel Proteins with Binding Specificity for DNA CTG Repeats And RNA Cug Repeats: Implications for Myotonic Dystrophy

1996 • 192 citations

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.

1995 • 186 citations

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)_n repeat

1995 • 181 citations

Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition

1876 • 176 citations

Congenital myotonic dystrophy in Britain. I. Clinical aspects.

1975 • 170 citations

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

2003 • 164 citations

Proximal Myotonic Myopathy

1995 • 160 citations

Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2

2004 • 158 citations

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

1998 • 154 citations

Decreased Hypocretin-1 (Orexin-A) Levels in the Cerebrospinal Fluid of Patients with Myotonic Dystrophy and Excessive Daytime Sleepiness

2003 • 152 citations

RNA Leaching of Transcription Factors Disrupts Transcription in Myotonic Dystrophy

2003 • 149 citations

Myopathologische Beiträge

1909 • 148 citations

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1993 • 146 citations

Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

2003 • 136 citations

Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model

1999 • 135 citations

Proximal myotonic dystrophy—a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

1997 • 135 citations

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

2002 • 130 citations

Sleep complaints in patients with myotonic dystrophy

2004 • 124 citations

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)

1999 • 120 citations

Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy

1999 • 117 citations

Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy

2003 • 116 citations

Sudden cardiac death in myotonic dystrophy type 2

2004 • 111 citations

Reduced cerebral blood flow and impaired visual–spatial function in proximal myotonic myopathy

1999 • 109 citations

The DMPK Gene of Severely Affected Myotonic Dystrophy Patients Is Hypermethylated Proximal to the Largely Expanded CTG Repeat

1998 • 105 citations

Cellular nucleic acid binding protein binds a conserved region of the 5′ UTR of Xenopus laevis ribosomal protein mRNAs

1997 • 103 citations

Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract

2003 • 97 citations

Muscle pathology in 57 patients with myotonic dystrophy type 2

2004 • 91 citations

Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts

2003 • 89 citations

Myotonic Dystrophy Is Associated with a Reduced Level of RNA from the DMWD Allele Adjacent to the Expanded Repeat

1999 • 88 citations

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

1994 • 88 citations

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

1993 • 86 citations

Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain

1997 • 86 citations

MYOTONIA ATROPHICA.

1909 • 82 citations

Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions.

1999 • 82 citations

Expanding complexity in myotonic dystrophy

1998 • 81 citations

Excessive Daytime Somnolence and Increased Rapid Eye Movement Pressure in Myotonic Dystrophy

2002 • 77 citations

Involvement of the Xenopus laevis Ro60 autoantigen in the alternative interaction of La and CNBP proteins with the 5′UTR of L4 ribosomal protein mRNA † 1 †In previous papers the numbering of Xenopus ribosomal proteins followed the system introduced in our first study (Pierandrei-Amaldi & Beccari, 1980). The large amount of sequencing data now accumulated in many species allows adoption of the rat system for a unified nomenclature (Wool et al., 1990). Thus, the Xenopus r-protein that we …

1998 • 75 citations

Value of the Electrocardiogram in Determining Cardiac Events and Mortality in Myotonic Dystrophy

1997 • 68 citations

Molecular genetics and pathogenesis of Friedreich ataxia

1998 • 65 citations

Progressive atrioventricular conduction block in a mouse myotonic dystrophy model.

2000 • 65 citations

COURSE, PROGNOSIS AND COMPLICATIONS OF CHILDHOOD‐ONSET MYOTONIC DYSTROPHY

1984 • 63 citations

Homozygosity for CCTG mutation in myotonic dystrophy type 2

2004 • 60 citations

Proximal myotonic myopathy: Mini-review of a recently delineated clinical disorder

1996 • 59 citations

Myogenic defects in myotonic dystrophy

2003 • 56 citations

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.

1993 • 53 citations

Proximal myotonic myopathy

2000 • 53 citations

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

2004 • 48 citations

Long CTG Tracts from the Myotonic Dystrophy Gene Induce Deletions and Rearrangements during Recombination at the APRT Locus in CHO Cells

2003 • 48 citations

Distribution and evolution of CTG repeats at the myotonin protein kinase gene in human populations.

1996 • 46 citations

Myotonic dystrophy—a multigene disorder

2001 • 42 citations

Muscle insulin resistance in myotonic dystrophy

1980 • 31 citations

Inhibition of myogenesis in transgenic mice expressing the human DMPK 3'-UTR

2004 • 29 citations

The DMWD protein from the myotonic dystrophy (DM1) gene region is developmentally regulated and is present most prominently in synapse-dense brain areas

2003 • 27 citations

Does (CUG)n repeat in DMPK mRNA ‘paint’ chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy?:

2001 • 24 citations

Two Cases of Myotonia Atrophica, Showing a Peculiar Distribution of Muscular Atrophy

1909 • 12 citations