Lista de obras - Marina Mora - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

artículo científico publicado en 2017

Calcitonin gene-related peptide immunoreactivity at the human neuromuscular junction

article

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Chloroquine myopathy and myasthenia-like syndrome.

artículo científico publicado en 1988

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

artículo científico publicado en 2004

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

artículo científico publicado en 1999

Clinical heterogeneity of adhalin deficiency

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 1997

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

artículo científico publicado en 2009

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

artículo científico publicado en 2000

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

artículo científico publicado en 1998

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

artículo científico publicado en 2018

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

artículo científico publicado en 1995

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Decorin and biglycan expression is differentially altered in several muscular dystrophies.

artículo científico publicado en 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.

artículo científico publicado en 1999

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

artículo científico publicado en 1996

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

artículo científico publicado en 2000

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

artículo científico publicado en 1995

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

artículo científico publicado en 2003

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

artículo científico publicado en 1993

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

artículo científico publicado en 1990

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

artículo científico publicado en 1995

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

artículo científico publicado en 1996

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

artículo científico publicado en 1995

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 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).

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2021

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

artículo científico publicado en 2013

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

artículo científico publicado en 1994

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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.

artículo científico publicado en 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

artículo científico publicado en 1994

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 1995

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 1994

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

artículo científico publicado en 2016

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

artículo científico publicado en 1996

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

artículo científico publicado en 1996

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 1987

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

artículo científico publicado en 2000

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Prevalence of congenital muscular dystrophy in Italy: a population study

artículo científico publicado en 2015

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

artículo científico publicado en 2000

Proteoglycans are differentially altered in muscular dystrophies.

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Skeletal myogenic potential of human and mouse neural stem cells

artículo científico publicado en 2000

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

artículo científico publicado en 1998

Synaptic vesicle abnormality in familial infantile myasthenia

artículo científico publicado en 1987

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 1995

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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.

artículo científico publicado en 1993

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

artículo científico publicado en 2017

Transcriptional behavior of DMD gene duplications in DMD/BMD males

artículo científico publicado en 2009

Transforming growth factor-β1 and fibrosis in congenital muscular dystrophies

artículo científico publicado en 1999

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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2013

Zc3h10 is a novel mitochondrial regulator.

artículo científico publicado en 2018

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

artículo científico publicado en 2016

Lista de obras de 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.