List of works - Giulia Ricci

"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.

scientific article

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

scientific article

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

scientific article published on 28 April 2016

A personal monitoring architecture to detect muscular fatigue in elderly

article

An "inflammatory" mitochondrial myopathy. A case report

scientific article published on 8 August 2013

Astrocyte-neuron interactions in neurological disorders

scientific article published on 14 May 2009

Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family

scientific article published on 22 June 2007

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

scientific article published on 12 June 2015

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

scientific article

Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies.

scientific article

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

scientific article published on 03 January 2012

Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls

scientific article published on 15 December 2011

Functional diagnostics in mitochondrial diseases

scientific article published on June 2007

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

scientific article

Inflammatory myopathy in a patient with postural and kinetik tremor

scientific article published on 10 May 2011

Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany.

scientific article published on 30 June 2007

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

scientific article

Metabolic myopathies: functional evaluation by different exercise testing approaches.

scientific article published on 04 March 2011

Mitochondria and neurodegeneration.

scientific article published on June 2007

Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment

article

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

scientific article published in 2013

Oxidative stress treatment for clinical trials in neurodegenerative diseases

scientific article published on January 2011

Pes cavus and hereditary neuropathies: when a relationship should be suspected

scientific article published on 21 October 2010

Posterior reversible encephalopathy syndrome in a complicated autoimmune background: differential diagnosis and etiological hypothesis.

scientific article published on 3 July 2012

Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication

scientific article

Response

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

scientific article

Serum gamma-glutamyltransferase fractions in myotonic dystrophy type I: differences with healthy subjects and patients with liver disease

scientific article published on 4 August 2010

The empowerment of translational research: lessons from laminopathies.

scientific article

List of works by Giulia Ricci

"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

A personal monitoring architecture to detect muscular fatigue in elderly

An "inflammatory" mitochondrial myopathy. A case report

Astrocyte-neuron interactions in neurological disorders

Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies.

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls

Functional diagnostics in mitochondrial diseases

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Inflammatory myopathy in a patient with postural and kinetik tremor

Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany.

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

Metabolic myopathies: functional evaluation by different exercise testing approaches.

Mitochondria and neurodegeneration.

Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

Oxidative stress treatment for clinical trials in neurodegenerative diseases

Pes cavus and hereditary neuropathies: when a relationship should be suspected

Posterior reversible encephalopathy syndrome in a complicated autoimmune background: differential diagnosis and etiological hypothesis.

Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication

Response

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

Serum gamma-glutamyltransferase fractions in myotonic dystrophy type I: differences with healthy subjects and patients with liver disease

The empowerment of translational research: lessons from laminopathies.