Lista de obras - Giorgio Tasca - Dominio Público Uruguay

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

artículo científico publicado en 2013

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

artículo científico publicado en 2010

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

artículo científico

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

scientific article published on 25 September 2010

Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy

scientific article published on 06 December 2010

Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives

artículo científico publicado en 2019

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

artículo científico publicado en 2016

An HIV-tailored quit-smoking counselling pilot intervention targeting depressive symptoms plus Nicotine Replacement Therapy.

artículo científico publicado en 2016

An Immunological Analysis of Dystroglycan Subunits: Lessons Learned from a Small Cohort of Non-Congenital Dystrophic Patients ⬇️

artículo científico publicado el 20 de octubre de 2011

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.

artículo científico publicado en 2010

An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.

artículo científico publicado en 2008

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

scientific article published on 06 March 2019

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

artículo científico publicado en 2010

Association study reveals novel risk loci for sporadic inclusion body myositis.

artículo científico publicado en 2017

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

artículo científico publicado en 2014

CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI

scientific article published on 10 November 2010

Calf muscle involvement in Becker muscular dystrophy: when size does not matter

artículo científico publicado en 2014

Central nervous system immune reconstitution inflammatory syndrome after autologous stem cell transplantation

scientific article published on 08 May 2019

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

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

scientific article published on 26 February 2014

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

scientific journal article

Concentric muscle involvement in POLG -related distal myopathy

scientific article published on 07 March 2017

Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

artículo científico publicado en 2020

Development and validation of the HIV Medication Readiness Scale

artículo científico publicado en 2007

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

artículo científico publicado en 2017

Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles ⬇️

artículo científico publicado el 13 de junio de 2012

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

artículo científico publicado en 2011

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

artículo científico publicado en 2012

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity

artículo científico publicado en 2017

Expanding the histopathological spectrum of CFL2-related myopathies.

artículo científico publicado en 2018

Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy.

artículo científico publicado en 2018

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

article

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough

artículo científico publicado en 2017

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

artículo científico publicado en 2021

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

artículo científico publicado en 2018

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L

artículo científico publicado en 2014

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

scientific article published on 30 August 2007

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

artículo científico publicado en 2013

MRI in sarcoglycanopathies: a large international cohort study.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials.

artículo científico publicado en 2016

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

scientific article published on 31 August 2015

Matrin 3 variants are frequent in Italian ALS patients

artículo científico publicado en 2016

Mitochondrial network genes in the skeletal muscle of amyotrophic lateral sclerosis patients

artículo científico publicado en 2013

Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration

artículo científico publicado en 2010

Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

artículo científico publicado en 2012

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

article

Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation.

artículo científico publicado en 2011

Muscle MRI in Becker muscular dystrophy

artículo científico publicado en 2012

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

scientific article published on 08 December 2018

Muscle MRI in female carriers of dystrophinopathy.

artículo científico publicado en 2012

Muscle MRI in neutral lipid storage disease (NLSD).

artículo científico publicado en 2017

Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy.

artículo científico publicado en 2017

Muscle hypertrophy in amyloid myopathy

scientific article published on 21 December 2018

Muscle imaging findings in GNE myopathy.

artículo científico publicado en 2012

Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective

artículo científico publicado en 2015

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

artículo científico publicado en 2015

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

artículo científico publicado en 2012

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

artículo científico publicado en 2018

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis

artículo científico publicado en 2016

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

artículo científico publicado en 2016

New phenotype and pathology features in MYH7-related distal myopathy

scientific article published on 20 April 2012

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

artículo científico publicado en 2015

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

artículo científico publicado en 2012

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

artículo científico publicado en 2018

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

artículo científico publicado en 2016

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

artículo científico publicado en 2015

Potential therapeutic targets for ALS: MIR206, MIR208b and MIR499 are modulated during disease progression in the skeletal muscle of patients.

artículo científico

Prevalence of congenital muscular dystrophy in Italy: a population study

artículo científico publicado en 2015

Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia.

artículo científico publicado en 2009

Proteomics of Muscle Microdialysates Identifies Potential Circulating Biomarkers in Facioscapulohumeral Muscular Dystrophy

artículo científico publicado en 2020

Response to: SOD1 mutations in adult-onset distal spinal muscular atrophy

artículo científico publicado en 2020

Rinsing after spinning: plasmapheresis in EBV-related post-infectious cerebellitis.

artículo científico publicado en 2017

SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum

scientific article published on 06 April 2020

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

scientific article published on 27 September 2012

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

scientific article published on 22 July 2017

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.

artículo científico publicado en 2018

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

artículo científico publicado en 2016

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

artículo científico publicado en 2016

Teaching video neuroimages: complicated scapular winging

artículo científico publicado en 2013

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

To the Editor

artículo científico publicado en 2017

Upper girdle imaging in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2014

Lista de obras de Giorgio Tasca

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy

Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

An HIV-tailored quit-smoking counselling pilot intervention targeting depressive symptoms plus Nicotine Replacement Therapy.

An Immunological Analysis of Dystroglycan Subunits: Lessons Learned from a Small Cohort of Non-Congenital Dystrophic Patients ⬇️

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.

An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

Association study reveals novel risk loci for sporadic inclusion body myositis.

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI

Calf muscle involvement in Becker muscular dystrophy: when size does not matter

Central nervous system immune reconstitution inflammatory syndrome after autologous stem cell transplantation

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

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

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

Concentric muscle involvement in POLG -related distal myopathy

Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Development and validation of the HIV Medication Readiness Scale

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles ⬇️

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity

Expanding the histopathological spectrum of CFL2-related myopathies.

Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy.

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

MRI in sarcoglycanopathies: a large international cohort study.

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

Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials.

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

Matrin 3 variants are frequent in Italian ALS patients

Mitochondrial network genes in the skeletal muscle of amyotrophic lateral sclerosis patients

Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration

Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation.

Muscle MRI in Becker muscular dystrophy

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

Muscle MRI in female carriers of dystrophinopathy.

Muscle MRI in neutral lipid storage disease (NLSD).

Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy.

Muscle hypertrophy in amyloid myopathy

Muscle imaging findings in GNE myopathy.

Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis

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

New phenotype and pathology features in MYH7-related distal myopathy

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

Potential therapeutic targets for ALS: MIR206, MIR208b and MIR499 are modulated during disease progression in the skeletal muscle of patients.

Prevalence of congenital muscular dystrophy in Italy: a population study

Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia.

Proteomics of Muscle Microdialysates Identifies Potential Circulating Biomarkers in Facioscapulohumeral Muscular Dystrophy

Response to: SOD1 mutations in adult-onset distal spinal muscular atrophy

Rinsing after spinning: plasmapheresis in EBV-related post-infectious cerebellitis.

SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.