Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects
出版年份 2017 全文链接
标题
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects
作者
关键词
Myotonic dystrophy type 2, Microsatellite expansion, Spliceopathy, Modifier genes
出版物
NEUROLOGICAL SCIENCES
Volume 38, Issue 4, Pages 535-546
出版商
Springer Nature
发表日期
2017-01-11
DOI
10.1007/s10072-016-2805-5
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Peripheral neuropathy in patients with myotonic dystrophy type 2
- (2016) L. Leonardis ACTA NEUROLOGICA SCANDINAVICA
- Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection FractionCLINICAL PERSPECTIVE
- (2016) Luisa Schmacht et al. Circulation-Cardiovascular Imaging
- No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome
- (2016) J. van Vliet et al. NEUROMUSCULAR DISORDERS
- Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study
- (2016) Sigrid Baldanzi et al. Orphanet Journal of Rare Diseases
- Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1
- (2016) Sigrid Baldanzi et al. NeuroImage-Clinical
- A Molecular Signature of Myalgia in Myotonic Dystrophy 2
- (2016) Rabih Moshourab et al. EBioMedicine
- Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms
- (2015) Giovanni Meola et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Gonadal failure is associated with visceral adiposity in myotonic dystrophies
- (2015) Elena Passeri et al. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
- New insights into the genetic instability in CCTG repeats
- (2015) Pei Guo et al. FEBS LETTERS
- Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2
- (2015) Rea Valaperta et al. Genetic Testing and Molecular Biomarkers
- SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype
- (2015) E. Bugiardini et al. NEUROMUSCULAR DISORDERS
- Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy
- (2015) R Cardani et al. EUROPEAN JOURNAL OF HISTOCHEMISTRY
- Cortical and Subcortical Grey and White Matter Atrophy in Myotonic Dystrophies Type 1 and 2 Is Associated with Cognitive Impairment, Depression and Daytime Sleepiness
- (2015) Christiane Schneider-Gold et al. PLoS One
- Abnormal Splicing of NEDD4 in Myotonic Dystrophy Type 2
- (2014) Mark Screen et al. AMERICAN JOURNAL OF PATHOLOGY
- Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction
- (2014) L.V. Renna et al. EUROPEAN JOURNAL OF HISTOCHEMISTRY
- Frontostriatal dysexecutive syndrome: a core cognitive feature of myotonic dystrophy type 2
- (2014) Stojan Peric et al. JOURNAL OF NEUROLOGY
- Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2
- (2014) Rosanna Cardani et al. NEUROMUSCULAR DISORDERS
- Plasma microRNAs as biomarkers for myotonic dystrophy type 1
- (2014) Alessandra Perfetti et al. NEUROMUSCULAR DISORDERS
- Genome Wide Identification of Aberrant Alternative Splicing Events in Myotonic Dystrophy Type 2
- (2014) Alessandra Perfetti et al. PLoS One
- Splicing biomarkers of disease severity in myotonic dystrophy
- (2013) Masayuki Nakamori et al. ANNALS OF NEUROLOGY
- Diagnostic odyssey of patients with myotonic dystrophy
- (2013) James E. Hilbert et al. JOURNAL OF NEUROLOGY
- Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies
- (2013) E. Passeri et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 AND DM2)
- (2013) Malgorzata Gawel et al. MUSCLE & NERVE
- Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2
- (2013) Rosanna Cardani et al. PLoS One
- Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
- (2012) Erik-Jan Kamsteeg et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): Long-term outcomes
- (2012) V.A. Sansone et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Myotonic dystrophy type 2 is rare in the Japanese population
- (2012) Tohru Matsuura et al. JOURNAL OF HUMAN GENETICS
- Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
- (2012) Rosanna Cardani et al. JOURNAL OF NEUROLOGY
- Deregulated MicroRNAs in Myotonic Dystrophy Type 2
- (2012) Simona Greco et al. PLoS One
- The Unstable CCTG Repeat Responsible for Myotonic Dystrophy Type 2 Originates from an AluSx Element Insertion into an Early Primate Genome
- (2012) Tatsuaki Kurosaki et al. PLoS One
- The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
- (2011) Martina Minnerop et al. BRAIN
- Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence
- (2011) M. Malatesta et al. EUROPEAN JOURNAL OF HISTOCHEMISTRY
- Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland
- (2011) Tiina Suominen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- RNA processing is altered in skeletal muscle nuclei of patients affected by myotonic dystrophy
- (2011) Manuela Malatesta et al. HISTOCHEMISTRY AND CELL BIOLOGY
- Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel
- (2011) Zhen Zhi Tang et al. HUMAN MOLECULAR GENETICS
- Pain in patients with myotonic dystrophy type 2: A postal survey in finland
- (2011) Kimmo I. Suokas et al. MUSCLE & NERVE
- Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
- (2011) Charlotte Fugier et al. NATURE MEDICINE
- Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!
- (2011) Christopher E. Pearson PLoS Genetics
- Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2
- (2010) Anna Vihola et al. ACTA NEUROPATHOLOGICA
- Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2
- (2010) Olayinka Raheem et al. AMERICAN JOURNAL OF PATHOLOGY
- Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells
- (2010) E Loro et al. CELL DEATH AND DIFFERENTIATION
- Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)
- (2010) Claudio Catalli et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2
- (2010) Vincenzo Romeo et al. JOURNAL OF NEUROLOGY
- Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients
- (2010) Stefano Gambardella et al. Journal of Translational Medicine
- Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2
- (2010) Y. G. Weber et al. NEUROLOGY
- Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1
- (2010) Riccardo Perbellini et al. NEUROMUSCULAR DISORDERS
- Non-ATG-initiated translation directed by microsatellite expansions
- (2010) T. Zu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Expression of RNA CCUG Repeats Dysregulates Translation and Degradation of Proteins in Myotonic Dystrophy 2 Patients
- (2009) Elizabeth Salisbury et al. AMERICAN JOURNAL OF PATHOLOGY
- Large CTG Repeats Trigger p16-Dependent Premature Senescence in Myotonic Dystrophy Type 1 Muscle Precursor Cells
- (2009) Anne Bigot et al. AMERICAN JOURNAL OF PATHOLOGY
- Common micro-RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemia
- (2009) Simona Greco et al. FASEB JOURNAL
- Type 2 Myotonic Dystrophy Can Be Predicted by the Combination of Type 2 Muscle Fiber Central Nucleation and Scattered Atrophy
- (2009) Guillaume Bassez et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Reduction of the Rate of Protein Translation in Patients with Myotonic Dystrophy 2
- (2009) C. Huichalaf et al. JOURNAL OF NEUROSCIENCE
- Absence of a differentiation defect in muscle satellite cells from DM2 patients
- (2009) Richard Pelletier et al. NEUROBIOLOGY OF DISEASE
- Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: A case control study
- (2009) Karim Wahbi et al. NEUROMUSCULAR DISORDERS
- Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2
- (2009) Rosanna Cardani et al. NEUROMUSCULAR DISORDERS
- Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia
- (2008) Satu Auvinen et al. ARTHRITIS AND RHEUMATISM
- miRNAS in normal and diseased skeletal muscle
- (2008) Iris Eisenberg et al. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
- High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
- (2008) T. Suominen et al. JOURNAL OF NEUROLOGY
- Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2
- (2008) Valerio Pisani et al. MUSCLE & NERVE
- Premutation allele pool in myotonic dystrophy type 2
- (2008) L. L. Bachinski et al. NEUROLOGY
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started