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Cognition in myotonic dystrophy type 1: a 5-year follow-up study

European journal of neurology, 2016-09, Vol.23 (9), p.1471-1476

2016

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Myotonic dystrophy is not only a disease affecting the muscles, it is also a CNS disorder

European journal of neurology, 2014-02, Vol.21 (2), p.183-184

Meola, G.

2014

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Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Neurology, 2009-05, Vol.72 (18), p.1544

2009

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Measuring quality of life impairment in skeletal muscle channelopathies

European journal of neurology, 2012-11, Vol.19 (11), p.1470-1476

2012

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Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

Scientific reports, 2016-12, Vol.6 (1), p.38174-38174, Article 38174

2016

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Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy

Neuromuscular disorders : NMD, 2020-01, Vol.30 (1), p.28-34

2020

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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

Human mutation, 2019-07, Vol.40 (7), p.962-974, Article humu.23745

2019

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Muscle biopsy

Journal of neurology, 2012-04, Vol.259 (4), p.601-610

2012

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Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction

European journal of histochemistry, 2014-10, Vol.58 (4), p.2444-2444

2014

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SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype

Neuromuscular disorders : NMD, 2015-04, Vol.25 (4), p.301-307

2015

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Consensus on cerebral involvement in myotonic dystrophy

Neuromuscular disorders : NMD, 2014-05, Vol.24 (5), p.445-452

2014

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The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): Long-term outcomes

International journal of cardiology, 2013-09, Vol.168 (2), p.1147-1153

2013

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Increased apoptosis, huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington's disease subjects

Cell death and differentiation, 2006-12, Vol.13 (12), p.2068-2078

2006

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Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2–3 December 2014, Milan, Italy

Neuromuscular disorders : NMD, 2015-10, Vol.25 (10), p.813-823

2015

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Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies

Journal of the neurological sciences, 2013-08, Vol.331 (1), p.132-135

2013

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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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Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.443-450

2011

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Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association?

Neurological sciences, 2016-11, Vol.37 (11), p.1867-1868

2016

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Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24-27, 2013, Ferrere (AT), Italy

Neuromuscular disorders : NMD, 2014-05, Vol.24 (5), p.445-452

2014

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

Neurology, 2003-06, Vol.60 (11), p.1854

2003

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Nuclear ribonucleoprotein-containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2

Histochemistry and cell biology, 2012-10, Vol.138 (4), p.699-707

2012

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Prevalence study of muscle channelopathies in Italy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S197-S197

2016

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Membership, lithium, and metallicity in the young open clusters IC 2602 and IC 2391: Enlarging the sample

Astronomy and astrophysics (Berlin), 2001-06, Vol.372 (3), p.862-878

2001

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IDMC-6 - The Sixth International Myotonic Dystrophy Consortium Meeting

European journal of histochemistry, 2009-08, Vol.51 (4), p.311-313

Meola, G

2009

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Two cases of benign neuromyelitis optica in patients with celiac disease

Journal of neurology, 2009-12, Vol.256 (12), p.2097-2099

2009

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Cognition in myotonic dystrophy type 1: a 5-year follow-up study

Myotonic dystrophy is not only a disease affecting the muscles, it is also a CNS disorder

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Measuring quality of life impairment in skeletal muscle channelopathies

Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

Muscle biopsy

Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction

SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype

Consensus on cerebral involvement in myotonic dystrophy

The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): Long-term outcomes

Increased apoptosis, huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington's disease subjects

Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2–3 December 2014, Milan, Italy

Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies

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

Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands

Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association?

Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24-27, 2013, Ferrere (AT), Italy

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

Nuclear ribonucleoprotein-containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2

Prevalence study of muscle channelopathies in Italy

Membership, lithium, and metallicity in the young open clusters IC 2602 and IC 2391: Enlarging the sample

IDMC-6 - The Sixth International Myotonic Dystrophy Consortium Meeting

Two cases of benign neuromyelitis optica in patients with celiac disease

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