Lista de obras - Giulia Ricci - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

artículo científico publicado en 2016

A personal monitoring architecture to detect muscular fatigue in elderly

article

An "inflammatory" mitochondrial myopathy. A case report

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Functional diagnostics in mitochondrial diseases

artículo científico publicado en 2007

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

artículo científico publicado en 2012

Inflammatory myopathy in a patient with postural and kinetik tremor

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Metabolic myopathies: functional evaluation by different exercise testing approaches.

artículo científico publicado en 2011

Mitochondria and neurodegeneration.

artículo científico publicado en 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

artículo científico publicado en 2013

Oxidative stress treatment for clinical trials in neurodegenerative diseases

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

The empowerment of translational research: lessons from laminopathies.

artículo científico publicado en 2012

Lista de obras de 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.