Neuromuscular and Rare Diseases Unit

Publications 2019

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

- 13/09/2019

Value of structured reporting in neuromuscular disorders

- 12/07/2019

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

- 13/05/2019

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

- 04/05/2019

Muscle pain in mitochondrial diseases: a picture from the Italian network

- 26/04/2019

Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease

- 09/04/2019

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice

- 12/03/2019

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature

- 31/01/2019

Publications 2018

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

- 19/12/2018

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

- 26/10/2018

The clinical spectrum of CASQ1-related myopathy

- 23/10/2018

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

- 18/10/2018

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature

- 15/10/2018

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

- 26/09/2018

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

- 25/09/2018

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

- 09/09/2018

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

- 04/08/2018

Muscle biopsy displaying “double trouble” pathology: Combined features of periodic paralysis and dermatomyositis

- 03/08/2018

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

- 28/07/2018

A mobile app for patients with Pompe disease and its possible clinical applications

- 28/06/2018

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

- 28/06/2018

Expanding the histopathological spectrum of CFL2-related myopathies

- 09/06/2018

Rhabdomyolysis-Associated Acute Kidney Injury

- 07/06/2018

Exertional rhabdomyolysis leading to acute kidney injury: when genetic defects are diagnosed in adult life

- 07/05/2018

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

- 01/05/2018

Publications 2017

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

- 05/10/2017

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

- 26/08/2017

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

- 27/05/2017

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

- 03/04/2017

Publications 2016

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

- 13/12/2016

A case report with the peculiar concomitance of 2 different genetic syndromes

- 09/12/2016

Histological effects of givinostat in boys with Duchenne muscular dystrophy

- 26/10/2016

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

- 08/07/2016

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

- 05/07/2016

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

- 28/06/2016

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

- 05/05/2016

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

- 26/04/2016

Asymptomatic Pompe disease: Can muscle magnetic resonance imaging facilitate diagnosis?

- 13/02/2016

Publications 2015

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

- 24/11/2015

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

- 24/09/2015

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

- 23/09/2015

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

- 02/07/2015

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

- 17/06/2015

Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone

- 05/06/2015

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

- 01/06/2015

Redefining phenotypes associated with mitochondrial DNA single deletion

- 28/05/2015

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family

- 25/05/2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

- 03/04/2015

Prevalence of congenital muscular dystrophy in Italy: a population study

- 03/03/2015

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease

- 01/02/2015

Congenital myopathies: Natural history of a large pediatric cohort

- 06/01/2015