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Molecular Diagnosis of Myotonic Dystrophy

Current Protocols in Human Genetics, 2016-10, Vol.91 (1), p.9.29.1-9.29.19

2016

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Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies

Neuromuscular disorders : NMD, 2014-03, Vol.24 (3), p.227-240

2014

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Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2

Neuropathology and applied neurobiology, 2013-06, Vol.39 (4), p.390-405

2013

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Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers

Human genetics, 2011-12, Vol.130 (6), p.789-794

2011

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Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

European journal of human genetics : EJHG, 2011-07, Vol.19 (7), p.776-782

2011

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Population frequency of myotonic dystrophy

European journal of human genetics : EJHG, 2011-03

2011

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Methylation of the candidate biomarker TCF21 is very frequent across a spectrum of early‐stage nonsmall cell lung cancers

Cancer, 2011-02, Vol.117 (3), p.606-617

2011

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Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

The American journal of pathology, 2010-12, Vol.177 (6), p.3025-3036

2010

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Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders

Muscle & nerve, 2010-12, Vol.42 (6), p.856-863

2010

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Methylation of the Candidate Biomarker TCF21 Is Very Frequent Across A Spectrum of Early Stage Non-Small Cell Lung Cancers

Cancer, 2010-10, Vol.117 (3), p.606-617

2010

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Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations

PloS one, 2010-05, Vol.5 (5), p.e10813-e10813

2010

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Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

Acta neuropathologica, 2010-04, Vol.119 (4), p.465-479

2010

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Myotonic dystrophy type 2 found in two of sixty‐three persons diagnosed as having fibromyalgia

Arthritis and rheumatism, 2008-11, Vol.58 (11), p.3627-3631

2008

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Molecular signatures of metastasis in head and neck cancer

Head & neck, 2008-10, Vol.30 (10), p.1273-1283

2008

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Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays

BMC genomics, 2008-05, Vol.9 (1), p.216-216, Article 216

2008

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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Brain (London, England : 1878), 2007-06, Vol.130 (6), p.1497-1506

2007

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Chapter 8 - Myotonic Dystrophy Type 2: Clinical and Genetic Aspects

Genetic Instabilities and Neurological Diseases, Second Edition, 2006, p.131-150

Second Edition, 2006

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Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23

Cancer research (Chicago, Ill.), 2005-01, Vol.65 (2), p.427-431

2005

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The cloning, genomic organization and tissue expression profile of the human DLG5 gene

BMC genomics, 2002-02, Vol.3 (1), p.6-6, Article 6

2002

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Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy

Circulation (New York, N.Y.), 2001-12, Vol.104 (25), p.3030-3033

2001

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Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy

Circulation (New York, N.Y.), 2001-10, Vol.104 (18), p.2188-2193

2001

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Tissue doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and

Circulation (New York, N.Y.), 2001-07, Vol.104 (2), p.128

2001

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Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy

Circulation (New York, N.Y.), 2001-07, Vol.104 (2), p.128-130

2001

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Molecular Diagnosis of Myotonic Dystrophy

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies

Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2

Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Population frequency of myotonic dystrophy

Methylation of the candidate biomarker TCF21 is very frequent across a spectrum of early‐stage nonsmall cell lung cancers

Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders

Methylation of the Candidate Biomarker TCF21 Is Very Frequent Across A Spectrum of Early Stage Non-Small Cell Lung Cancers

Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

Myotonic dystrophy type 2 found in two of sixty‐three persons diagnosed as having fibromyalgia

Molecular signatures of metastasis in head and neck cancer

Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Chapter 8 - Myotonic Dystrophy Type 2: Clinical and Genetic Aspects

Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23

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

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

The cloning, genomic organization and tissue expression profile of the human DLG5 gene

Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy

Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy

Tissue doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and

Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy

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