Lista de obras - Adele D'Amico - Dominio Público Uruguay

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

artículo científico publicado en 2013

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

artículo científico publicado en 2014

A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features

artículo científico publicado en 2011

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

artículo científico

Acute quadriplegic myopathy in a 16-month-old child.

artículo científico publicado en 2005

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.

artículo científico publicado en 2012

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. ⬇️

artículo científico publicado en 2015

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

artículo científico publicado en 2012

Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?

artículo científico publicado en 2014

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

artículo científico publicado en 2012

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

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report

artículo científico publicado en 2013

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

scientific article published on 26 February 2014

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

artículo científico publicado en 2008

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

artículo científico publicado en 2019

Congenital muscular dystrophies: a brief review

artículo científico publicado en 2011

Congenital myopathies

artículo científico publicado en 2008

Daily salbutamol in young patients with SMA type II

artículo científico publicado en 2008

De novo LMNA mutations cause a new form of congenital muscular dystrophy

artículo científico publicado en 2008

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

artículo científico publicado en 2016

Duchenne muscular dystrophy and epilepsy.

artículo científico publicado en 2013

Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study

artículo científico publicado en 2015

Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita.

artículo científico publicado en 2014

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience

artículo científico publicado en 2013

Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts

artículo científico publicado en 2012

Expanding the clinical spectrum of POMT1 phenotype.

artículo científico publicado en 2006

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

artículo científico publicado en 2006

Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report

artículo científico publicado en 2012

Functional and Morphological Improvement of Dystrophic Muscle by Interleukin 6 Receptor Blockade.

artículo científico publicado en 2015

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

artículo científico publicado en 2011

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

article

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

artículo científico publicado en 2012

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1

artículo científico publicado en 2004

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

artículo científico publicado en 2014

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.

artículo científico publicado en 2016

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

artículo científico publicado en 2007

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

artículo científico publicado en 2015

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria

artículo científico publicado en 2006

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy

artículo científico publicado en 2009

Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy.

artículo científico publicado en 2012

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

artículo científico publicado en 2010

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

artículo científico publicado en 2015

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

artículo científico publicado en 2014

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

artículo científico publicado en 2011

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

artículo científico publicado en 2005

Mitochondrial encephalomyopathies and related syndromes: brief review

artículo científico publicado en 2009

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

article

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

Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

article

Natural history of pulmonary function in collagen VI-related myopathies

artículo científico publicado en 2013

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Old measures and new scores in spinal muscular atrophy patients

artículo científico publicado en 2015

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

artículo científico publicado en 2006

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

artículo científico publicado en 2008

POMT2 mutation in a patient with 'MEB-like' phenotype.

artículo científico publicado en 2006

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

article

Pilot trial of phenylbutyrate in spinal muscular atrophy

artículo científico publicado en 2004

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

artículo científico publicado en 2012

Prevalence of congenital muscular dystrophy in Italy: a population study

artículo científico publicado en 2015

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

artículo científico publicado en 2007

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

article

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

artículo científico publicado en 2009

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.

artículo científico publicado en 2013

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

artículo científico publicado en 2012

Rituximab in a childhood-onset idiopathic refractory chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 2011

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

artículo científico publicado en 2010

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

artículo científico publicado en 2010

Spinal muscular atrophy

artículo científico publicado en 2011

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

artículo científico publicado en 2015

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy

artículo científico publicado en 2014

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

scientific journal article

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

artículo científico publicado en 2007

The empowerment of translational research: lessons from laminopathies.

artículo científico publicado en 2012

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

artículo científico publicado en 2011

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

artículo científico publicado en 2016

Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation

artículo científico publicado en 2016

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

artículo científico publicado en 2005

miRNAs as serum biomarkers for Duchenne muscular dystrophy

artículo científico publicado en 2011

Lista de obras de Adele D'Amico

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features

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

Acute quadriplegic myopathy in a 16-month-old child.

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. ⬇️

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

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

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Congenital muscular dystrophies: a brief review

Congenital myopathies

Daily salbutamol in young patients with SMA type II

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Duchenne muscular dystrophy and epilepsy.

Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study

Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita.

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience

Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts

Expanding the clinical spectrum of POMT1 phenotype.

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report

Functional and Morphological Improvement of Dystrophic Muscle by Interleukin 6 Receptor Blockade.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

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

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

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

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

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy

Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy.

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

Mitochondrial encephalomyopathies and related syndromes: brief review

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

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

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

Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

Natural history of pulmonary function in collagen VI-related myopathies

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

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

Old measures and new scores in spinal muscular atrophy patients

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

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

POMT2 mutation in a patient with 'MEB-like' phenotype.

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

Pilot trial of phenylbutyrate in spinal muscular atrophy

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

Prevalence of congenital muscular dystrophy in Italy: a population study

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

Rituximab in a childhood-onset idiopathic refractory chronic inflammatory demyelinating polyneuropathy

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

Spinal muscular atrophy

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy

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

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

The empowerment of translational research: lessons from laminopathies.

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.