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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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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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Establishment of a cardiac biobank in a Department of Pathology and Laboratory Medicine

Journal of biological regulators and homeostatic agents, 2020-11, Vol.34 (6), p.1983-1991

2020

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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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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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Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1

European journal of histochemistry, 2015-10, Vol.59 (4), p.2562-2562

2015

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Sensitivity of serology assay in Covid-19 diagnosis: does the antigen matter?

Journal of biological regulators and homeostatic agents, 2021-05, Vol.35 (3), p.881-887

2021

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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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Muscleblind-like1 undergoes ectopic relocation in the nuclei of skeletal muscles in myotonic dystrophy and sarcopenia

European journal of histochemistry, 2013-04, Vol.57 (2), p.e15-e15

2013

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Characterization of sarcoplasmic reticulum ca2+ ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

Neuromuscular disorders : NMD, 2016-06, Vol.26 (6), p.378-385

2016

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Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

Scientific reports, 2017-02, Vol.7 (1), p.43074-43074, Article 43074

2017

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Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

Neuromuscular disorders : NMD, 2016-06, Vol.26 (6), p.378-385

2016

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Severe myotonia in juvenile myotonic dystrophy type 2 and sodium channel gene mutation

Journal of the neurological sciences, 2013-10, Vol.333, p.e456-e456

2013

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Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence

European journal of histochemistry, 2011-01, Vol.55 (3), p.e26-e26

2011

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P-352 Investigating the association between DMPK CTG repeats and female hypogonadism in patients affected by Type 1 Myotonic Dystrophy

Human reproduction (Oxford), 2024-07, Vol.39 (Supplement_1)

2024

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RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study

European journal of histochemistry, 2009-09, Vol.53 (3), p.e18-e18

2009

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Routinely frozen biopsies of human skeletal muscle are suitable for morphological and immunocytochemical analyses at transmission electron microscopy

European journal of histochemistry, 2010-07, Vol.54 (3), p.e31-e31

2010

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A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1

Neuromuscular disorders : NMD, 2008-08, Vol.18 (8), p.641-645

2008

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Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies

European journal of histochemistry, 2009-04, Vol.53 (2), p.107-111

2009

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Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy

European journal of histochemistry, 2004-10, Vol.48 (4), p.437-442

2004

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D.P.4.06 No correlation of increase in size of ribonuclear inclusions to type II fibre atrophy in myotonic dystrophy type 2 over time

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.798-798

2008

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Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2

European journal of histochemistry, 2006-07, Vol.50 (3), p.177-182

2006

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RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study

European journal of histochemistry, 2009-09, Vol.53 (3), p.151-158

2009

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Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies

European journal of histochemistry, 2009-06, Vol.53 (2), p.e13-e13

2009

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

Muscle biopsy

SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype

Establishment of a cardiac biobank in a Department of Pathology and Laboratory Medicine

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

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

Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1

Sensitivity of serology assay in Covid-19 diagnosis: does the antigen matter?

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

Muscleblind-like1 undergoes ectopic relocation in the nuclei of skeletal muscles in myotonic dystrophy and sarcopenia

Characterization of sarcoplasmic reticulum ca2+ ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

Severe myotonia in juvenile myotonic dystrophy type 2 and sodium channel gene mutation

Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence

P-352 Investigating the association between DMPK CTG repeats and female hypogonadism in patients affected by Type 1 Myotonic Dystrophy

RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study

Routinely frozen biopsies of human skeletal muscle are suitable for morphological and immunocytochemical analyses at transmission electron microscopy

A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1

Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies

Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy

D.P.4.06 No correlation of increase in size of ribonuclear inclusions to type II fibre atrophy in myotonic dystrophy type 2 over time

Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2

RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study

Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies

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