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List of works by Adele D'Amico

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)

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

scientific article published on 8 January 2014

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

scientific article published on September 2011

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

scientific article published on 15 July 2015

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

scientific article published in July 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.

scientific article published on 5 May 2012

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

scientific article published on 17 July 2015

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

scientific article published on 21 July 2012

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

scientific article published on 24 December 2014

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

scientific article

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

scientific article published on 10 May 2015

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

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

scientific article

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

scientific article published on 7 January 2008

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

scientific article published on 09 March 2019

Congenital muscular dystrophies: a brief review

scientific article

Congenital myopathies

scientific article published on 01 January 2008

Daily salbutamol in young patients with SMA type II

scientific article

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

scientific article published in August 2008

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

scientific article published on 4 March 2016

Duchenne muscular dystrophy and epilepsy.

scientific article published on 7 March 2013

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

scientific article published on 14 August 2015

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

scientific article published on 25 June 2014

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

scientific article published on 7 August 2013

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

scientific article published on 11 September 2012

Expanding the clinical spectrum of POMT1 phenotype.

scientific article published on May 2006

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

scientific article published on 01 September 2006

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

scientific article published on 6 February 2012

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

scientific article

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

scientific article published on 7 April 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

scientific article

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

scientific article

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

scientific article published on 16 January 2014

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

scientific article

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

scientific article published on 03 December 2007

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

scientific article

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

scientific article

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

scientific article published in May 2009

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

scientific article published on 11 April 2012

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in February 2011

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

scientific article published on 8 November 2005

Mitochondrial encephalomyopathies and related syndromes: brief review

scientific article published on January 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

scientific article published on 12 May 2015

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

scientific article published on 17 July 2015

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

article

Natural history of pulmonary function in collagen VI-related myopathies

scientific article

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

scientific article published on 14 July 2010

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

scientific article published on 17 February 2016

Old measures and new scores in spinal muscular atrophy patients

scientific article

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

scientific article published in October 2006

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

scientific article published on 2 June 2008

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

scientific article published on 15 May 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

scientific article

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

scientific article published on 8 May 2012

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

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

scientific article

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.

scientific article published on 23 June 2009

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

scientific article

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

scientific article published on 14 December 2012

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

scientific article published on 07 September 2011

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

scientific article

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

scientific article

Spinal muscular atrophy

scientific article

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

scientific article published on 3 April 2015

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

scientific article published on 6 October 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.

scientific article published on 12 April 2007

The empowerment of translational research: lessons from laminopathies.

scientific article

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

scientific article published on 27 August 2011

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

scientific article

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

scientific article

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

scientific article

miRNAs as serum biomarkers for Duchenne muscular dystrophy

scientific article published on 21 March 2011

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