List of works - Marina Mora

A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

scientific article

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release

scientific article

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.

scientific article published on 27 October 2013

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

scientific article published on 10 September 2014

A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus

article

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation

scientific article published in January 1998

A novel nonsense mutation in the human dystrophin gene

article

A rare mutation in MYH7 gene occurs with overlapping phenotype

article

A role for inflammatory mediators in the modulation of the neurotrophin receptor p75NTR on human muscle precursor cells

scientific article

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

scientific article published on 22 January 2007

Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy

scientific article published in July 2004

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

scientific article

Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy

scientific article published on 12 March 2019

Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes.

scientific article

Altered production of extra-cellular matrix components by muscle-derived Duchenne muscular dystrophy fibroblasts before and after TGF-β1 treatment

scientific article published on 10 November 2009

Anti-fibrotic effect of pirfenidone in muscle derived-fibroblasts from Duchenne muscular dystrophy patients.

scientific article published on 8 December 2015

Botulinum toxin type A affects the transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients

scientific article published on 6 March 2018

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

scientific article

Calcitonin gene-related peptide immunoreactivity at the human neuromuscular junction

article

Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy

scientific article published on 07 March 2010

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

scientific article published on 8 February 2013

Chloroquine myopathy and myasthenia-like syndrome.

scientific article published on February 1988

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

scientific article

Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the protein

scientific article published in February 1999

Clinical heterogeneity of adhalin deficiency

scientific article published on 01 February 1996

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

scientific journal article

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

scientific article published in February 2008

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

scientific article published on 25 July 2015

Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects

scientific article published on 01 July 1997

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

scientific article (publication date: 26 May 2009)

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

scientific article published on December 2000

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

scientific article published on 01 December 1998

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

scientific article published on 26 October 2018

DMD and BMD in the same family due to two distinct mutations

scientific article published on 01 December 1995

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

scientific article

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression

scientific article published on 5 November 2008

Decorin and biglycan expression is differentially altered in several muscular dystrophies

scientific article published on 23 September 2005

Development of muscle pathology in canine X-linked muscular dystrophy. I. Delayed postnatal maturation of affected and normal muscle as revealed by myosin isoform analysis and utrophin expression

scientific article published in February 1999

Developmental expression of dystrophin, dystrophin-associated glycoproteins and other membrane cytoskeletal proteins in human skeletal and heart muscle

scientific article published in January 1996

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

scientific article

Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy

scientific article published on 01 March 1994

Duplication of dystrophin gene and dissimilar clinical phenotype in the same family

scientific article published in November 1995

Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer.

scientific article published in May 2003

Dystrophin abnormalities in Duchenne and Becker dystrophy carriers: correlation with cytoskeletal proteins and myosins

scientific article published on 01 September 1993

Dystrophin analysis in duchenne and becker muscular dystrophy carriers: Correlation with intracellular calcium and albumin

scientific article published on 01 November 1990

Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype

scientific article published on 01 October 1995

Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic Duchenne/Becker muscular dystrophy carriers

scientific article published on 01 October 1996

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study

scientific article

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

scientific article

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

scientific article published on 2 June 2017

Engineering an Environment for the Study of Fibrosis: A 3D Human Muscle Model with Endothelium Specificity and Endomysium

scientific article published on 01 December 2018

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

scientific article published on 01 March 2001

Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).

scientific article published on 29 May 2013

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

scientific article

Expanding the central nervous system disease spectrum associated with FLNC mutation

scientific article published on 20 February 2019

FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy

scientific article published on 19 May 2021

Familial adult-onset Pompe disease associated with unusual clinical and histological features

scientific article published on October 2013

Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.

scientific article published on October 1994

Fibroblasts from the muscles of Duchenne muscular dystrophy patients are resistant to cell detachment apoptosis

scientific article published on 09 August 2011

Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.

scientific article

Generalized lysosomal storage in Yunis Varón syndrome

scientific article published on 01 September 1995

HDAC8 regulates canonical Wnt pathway to promote differentiation in skeletal muscles

scientific article published on 24 September 2018

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

scientific article

Human Neurotrophin Receptor p75NTR Defines Differentiation-Oriented Skeletal Muscle Precursor Cells: Implications for Muscle Regeneration

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

scientific article published on 15 October 2008

Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin

scientific article

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

scientific article published on June 2015

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

scientific article

LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression

scientific article published on 11 April 2008

Lack of mRNA and dystrophin expression in DMD patients three months after myoblast transfer

scientific article published on 01 July 1995

Laminin-alpha2 but not -alpha1-mediated adhesion of human (Duchenne) and murine (mdx) dystrophic myotubes is seriously defective.

scientific article published on May 1997

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

scientific article

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

scientific article published on 19 December 2018

Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant

scientific article published on 01 May 1994

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

scientific article published on 07 July 2016

Major histocompatibility complex class II molecule expression on muscle cells is regulated by differentiation: implications for the immunopathogenesis of muscle autoimmune diseases

scientific article published on 01 August 1996

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities

scientific article published on 01 October 1996

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

scientific article published in December 2004

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

scientific article published on 20 June 2016

Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study

scientific article (publication date: September 2003)

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

scientific article published on February 2017

Needle biopsy for muscle diagnosis and research: an Italian experience.

scientific article

Neuromuscular syndrome associated with the 3291T→C mutation of mitochondrial DNA: a second case

scientific article published in August 2000

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

scientific article

Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy

scientific article published on 26 November 2014

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

scientific article

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

scientific article published on 17 February 2016

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

scientific article published on 6 January 2017

Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy.

scientific article published on 17 April 2015

Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis.

scientific article published in December 2011

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

scientific article

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

scientific article published on 2 June 2008

Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.

scientific article published on 22 June 2011

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

scientific article

Proteoglycans are differentially altered in muscular dystrophies.

scientific article published on 4 April 2006

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

scientific article

Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER.

scientific article published in January 2017

Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation

scientific article published on 16 July 2009

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

scientific article

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

scientific article published on 16 January 2016

Severe Congenital Muscular Dystrophy in a LAMA2-Mutated Case

scientific article published on 01 September 2007

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

scientific article

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

scientific article published on 9 January 2016

Skeletal myogenic potential of human and mouse neural stem cells

scientific article published on 01 October 2000

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

scientific article

Synaptic vesicle abnormality in familial infantile myasthenia

scientific article published on 01 February 1987

Tackling muscle fibrosis: From molecular mechanisms to next generation engineered models to predict drug delivery

scientific article published on 05 March 2018

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

scientific article published on 30 August 2013

Test of Antifibrotic Drugs in a Cellular Model of Fibrosis Based on Muscle-Derived Fibroblasts from Duchenne Muscular Dystrophy Patients

scientific article published in January 2018

The "bystander effect": association of U-87 cell death with ganciclovir-mediated apoptosis of nearby cells and lack of effect in athymic mice.

scientific article

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

scientific article

The Kinesin Superfamily Motor Protein KIF4 Is Associated With Immune Cell Activation in Idiopathic Inflammatory Myopathies

scientific article published on 01 June 2008

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

scientific article

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

scientific article

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

scientific article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

The neurotrophin receptor p75NTR is induced on mature myofibres in inflammatory myopathies and promotes myotube survival to inflammatory stress

article published in 2012

The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies.

scientific article published on September 1993

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

scientific article published on 31 August 2017

Transcriptional behavior of DMD gene duplications in DMD/BMD males

scientific article published on February 2009

Transforming growth factor-β1 and fibrosis in congenital muscular dystrophies

scientific article published on 01 January 1999

Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy.

scientific article published on June 2012

Type I interferon and Toll-like receptor expression characterizes inflammatory myopathies.

scientific article published in June 2011

Unusual expression of emerin in a patient with X-linked Emery–Dreifuss muscular dystrophy

scientific article published on 01 December 2000

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

scientific article

Very small dystrophin molecule in a family with a mild form of Becker dystrophy

scientific article published on 01 January 1993

X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

scientific article published on 25 April 2013

Zc3h10 is a novel mitochondrial regulator.

scientific article published on 5 March 2018

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

scientific article

List of works by Marina Mora

A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation

A novel nonsense mutation in the human dystrophin gene

A rare mutation in MYH7 gene occurs with overlapping phenotype

A role for inflammatory mediators in the modulation of the neurotrophin receptor p75NTR on human muscle precursor cells

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy

Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes.

Altered production of extra-cellular matrix components by muscle-derived Duchenne muscular dystrophy fibroblasts before and after TGF-β1 treatment

Anti-fibrotic effect of pirfenidone in muscle derived-fibroblasts from Duchenne muscular dystrophy patients.

Botulinum toxin type A affects the transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

Calcitonin gene-related peptide immunoreactivity at the human neuromuscular junction

Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

Chloroquine myopathy and myasthenia-like syndrome.

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the protein

Clinical heterogeneity of adhalin deficiency

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

DMD and BMD in the same family due to two distinct mutations

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression

Decorin and biglycan expression is differentially altered in several muscular dystrophies

Development of muscle pathology in canine X-linked muscular dystrophy. I. Delayed postnatal maturation of affected and normal muscle as revealed by myosin isoform analysis and utrophin expression

Developmental expression of dystrophin, dystrophin-associated glycoproteins and other membrane cytoskeletal proteins in human skeletal and heart muscle

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy

Duplication of dystrophin gene and dissimilar clinical phenotype in the same family

Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer.

Dystrophin abnormalities in Duchenne and Becker dystrophy carriers: correlation with cytoskeletal proteins and myosins

Dystrophin analysis in duchenne and becker muscular dystrophy carriers: Correlation with intracellular calcium and albumin

Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype

Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic Duchenne/Becker muscular dystrophy carriers

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Engineering an Environment for the Study of Fibrosis: A 3D Human Muscle Model with Endothelium Specificity and Endomysium

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

Expanding the central nervous system disease spectrum associated with FLNC mutation

FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy

Familial adult-onset Pompe disease associated with unusual clinical and histological features

Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.

Fibroblasts from the muscles of Duchenne muscular dystrophy patients are resistant to cell detachment apoptosis

Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.

Generalized lysosomal storage in Yunis Varón syndrome

HDAC8 regulates canonical Wnt pathway to promote differentiation in skeletal muscles

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

Human Neurotrophin Receptor p75NTR Defines Differentiation-Oriented Skeletal Muscle Precursor Cells: Implications for Muscle Regeneration

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression

Lack of mRNA and dystrophin expression in DMD patients three months after myoblast transfer

Laminin-alpha2 but not -alpha1-mediated adhesion of human (Duchenne) and murine (mdx) dystrophic myotubes is seriously defective.

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Major histocompatibility complex class II molecule expression on muscle cells is regulated by differentiation: implications for the immunopathogenesis of muscle autoimmune diseases

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.