List of works - Giorgio Tasca

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

scientific article

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

article

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

scientific article published on 18 November 2011

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

scientific article published on 10 November 2010

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

scientific article published on 7 March 2012

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

scientific article published on June 13, 2012

Upper girdle imaging in facioscapulohumeral muscular dystrophy

scientific article

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

scientific article published on 08 June 2016

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

scientific article published in January 2014

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

scientific article

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

scientific article published on 30 March 2015

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

scientific article

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

scientific article published in January 2008

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

scientific journal article

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

scientific article published on 30 August 2007

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

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

scientific article published on 31 August 2015

Muscle imaging findings in GNE myopathy.

scientific article published on 10 January 2012

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

scientific article

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

scientific article published on 26 February 2014

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

scientific article published on February 2016

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

scientific article published on 25 August 2017

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

scientific article published on 15 July 2015

Development and validation of the HIV Medication Readiness Scale

scientific article published on 01 December 2007

Muscle MRI in Becker muscular dystrophy

scientific article published on 01 October 2012

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

scientific article published on 25 September 2010

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

scientific article

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

scientific article

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

scientific article published on 19 July 2013

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

scientific article

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

scientific journal article

Muscle MRI in female carriers of dystrophinopathy.

scientific article published on 15 May 2012

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

scientific article published on 07 July 2016

New phenotype and pathology features in MYH7-related distal myopathy

scientific article published on 20 April 2012

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

scientific article published on 10 May 2015

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

scientific article

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

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

scientific article

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

scientific article published on 06 March 2017

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

scientific article published on 29 October 2016

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

scientific article published on 28 November 2016

Matrin 3 variants are frequent in Italian ALS patients

scientific article published on 6 October 2016

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

scientific article

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

scientific article published on 01 July 2010

MRI in sarcoglycanopathies: a large international cohort study.

scientific article published on 9 September 2017

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

scientific article published on 22 October 2014

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

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

scientific article

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

scientific article published on 27 September 2012

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

scientific article published on 9 May 2009

List of works by Giorgio Tasca

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

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

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

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

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

Upper girdle imaging in facioscapulohumeral muscular dystrophy

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

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

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

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

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

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

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

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

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

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

Muscle imaging findings in GNE myopathy.

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

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

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

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

Development and validation of the HIV Medication Readiness Scale

Muscle MRI in Becker muscular dystrophy

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

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

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

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

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

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

Muscle MRI in female carriers of dystrophinopathy.

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

New phenotype and pathology features in MYH7-related distal myopathy

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

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

Prevalence of congenital muscular dystrophy in Italy: a population study

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

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

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

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

Matrin 3 variants are frequent in Italian ALS patients

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

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

MRI in sarcoglycanopathies: a large international cohort study.

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

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

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

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

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