List of works - Adele D'Amico

miRNAs as serum biomarkers for Duchenne muscular dystrophy

scientific article published on 21 March 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

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

scientific article published in August 2008

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

Spinal muscular atrophy

scientific article

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

scientific article

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

scientific article published on 23 June 2009

Pilot trial of phenylbutyrate in spinal muscular atrophy

scientific article

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

scientific article published on 7 January 2008

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

scientific article

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

scientific article

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)

Daily salbutamol in young patients with SMA type II

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

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

scientific article published on 5 May 2012

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

scientific article

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

scientific article published on 7 April 2011

Congenital muscular dystrophies: a brief review

scientific article

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

scientific article

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

scientific article published on 01 September 2006

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

scientific article published on 8 January 2014

Natural history of pulmonary function in collagen VI-related myopathies

scientific article

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

article

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

scientific article

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

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

scientific article

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

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

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

scientific article

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

scientific article published in May 2009

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

scientific article

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

scientific article published on 15 May 2006

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

scientific article published on 26 February 2014

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

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

scientific article published on 2 June 2008

Expanding the clinical spectrum of POMT1 phenotype.

scientific article published on May 2006

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

scientific article published on 11 April 2012

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

scientific article

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

scientific article published on 12 April 2007

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

scientific article published on 15 July 2015

Duchenne muscular dystrophy and epilepsy.

scientific article published on 7 March 2013

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

scientific article published on 14 December 2012

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

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

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

scientific article published in October 2006

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

scientific journal article

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

scientific article published on 21 July 2012

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

scientific article published on 10 May 2015

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

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

List of works by Adele D'Amico

miRNAs as serum biomarkers for Duchenne 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

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

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

Spinal muscular atrophy

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

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

Pilot trial of phenylbutyrate in spinal muscular atrophy

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

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

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

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

Daily salbutamol in young patients with SMA type II

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

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

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

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

Congenital muscular dystrophies: a brief review

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

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

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

Natural history of pulmonary function in collagen VI-related myopathies

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

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

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

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

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

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

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

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

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

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

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

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

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

Expanding the clinical spectrum of POMT1 phenotype.

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

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

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

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

Duchenne muscular dystrophy and epilepsy.

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

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

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

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

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

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

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

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

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