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Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1

Neurology, 2010-05, Vol.74 (18), p.1441-1448

2010

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Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

Neurology, 2005-01, Vol.64 (1), p.13-20

2005

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Quantitative analysis of the "warm-up" phenomenon in myotonic dystrophy type 1

Muscle & nerve, 2005-07, Vol.32 (1), p.35-42

2005

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Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy

European journal of neurology, 2017-05, Vol.24 (5), p.713-718

2017

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Survival patterns and cancer determinants in families with myotonic dystrophy type 1

European journal of neurology, 2019-01, Vol.26 (1), p.58-65

2019

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Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

Nature genetics, 1997-08, Vol.16 (4), p.407-409

1997

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Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)

Neuromuscular disorders : NMD, 2003-12, Vol.13 (10), p.813-821

2003

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Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1

Neurology, 2004-04, Vol.62 (7), p.1081-1089

2004

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Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

Neurology, 1994-08, Vol.44 (8), p.1448-1448

1994

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

Neurology, 1999-09, Vol.53 (5), p.1042-1042

1999

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Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

Annals of neurology, 1994-01, Vol.35 (1), p.104-107

1994

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A randomized efficacy and safety trial of oxandrolone in the treatment of Duchenne dystrophy

Neurology, 2001-04, Vol.56 (8), p.1075-1079

2001

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Myotonic dystrophy with no trinucleotide repeat expansion

Annals of neurology, 1994-03, Vol.35 (3), p.269-272

1994

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Proximal myotonic myopathy: a syndrome with a favourable prognosis?

Journal of the neurological sciences, 2002-01, Vol.193 (2), p.89-96

2002

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Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?

Annals of neurology, 1997-02, Vol.41 (2), p.230-237

1997

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Distribution of insulin receptor-like immunoreactivity in the rat forebrain

Neuroscience, 1989, Vol.31 (1), p.143-157

1989

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Duchenne dystrophy: randomized, controlled trial of prednisone (18 months) and azathioprine (12 months)

Neurology, 1993-03, Vol.43 (3 Pt 1), p.520-520

1993

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

Human molecular genetics, 2001-09, Vol.10 (19), p.2165-2170

2001

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Effect of prednisone on protein metabolism in Duchenne dystrophy

American journal of physiology: endocrinology and metabolism, 1995-01, Vol.268 (1), p.E67-E74

1995

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Hypothyroidism unmasking proximal myotonic myopathy

Neuromuscular disorders : NMD, 2000-03, Vol.10 (3), p.165-172

2000

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Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy

The New England journal of medicine, 1989-06, Vol.320 (24), p.1592-1597

1989

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Acetazolamide-induced nephrolithiasis: implications for treatment of neuromuscular disorders

Neurology, 1993-06, Vol.43 (6), p.1105-1105

1993

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54th ENMC International Workshop: PROMM (Proximal Myotonic Myopathies) and Other Proximal Myotonic Syndromes 10–12th October 1997, Naarden, The Netherlands

Neuromuscular disorders : NMD, 1998-10, Vol.8 (7), p.508-518

1998

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Long-term benefit from prednisone therapy in Duchenne muscular dystrophy

Neurology, 1991-12, Vol.41 (12), p.1874

1991

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Proximal myotonic myopathy (PROMM) and other proximal myotonic syndromes

Neuromuscular disorders : NMD, 1998-10, Vol.8 (7), p.519-520

1998

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Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1

Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

Quantitative analysis of the "warm-up" phenomenon in myotonic dystrophy type 1

Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy

Survival patterns and cancer determinants in families with myotonic dystrophy type 1

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)

Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

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

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

A randomized efficacy and safety trial of oxandrolone in the treatment of Duchenne dystrophy

Myotonic dystrophy with no trinucleotide repeat expansion

Proximal myotonic myopathy: a syndrome with a favourable prognosis?

Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?

Distribution of insulin receptor-like immunoreactivity in the rat forebrain

Duchenne dystrophy: randomized, controlled trial of prednisone (18 months) and azathioprine (12 months)

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

Effect of prednisone on protein metabolism in Duchenne dystrophy

Hypothyroidism unmasking proximal myotonic myopathy

Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy

Acetazolamide-induced nephrolithiasis: implications for treatment of neuromuscular disorders

54th ENMC International Workshop: PROMM (Proximal Myotonic Myopathies) and Other Proximal Myotonic Syndromes 10–12th October 1997, Naarden, The Netherlands

Long-term benefit from prednisone therapy in Duchenne muscular dystrophy

Proximal myotonic myopathy (PROMM) and other proximal myotonic syndromes

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