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Glutathione imbalance in blood of patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S250-S250

2015

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A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies

Neuromuscular disorders : NMD, 2013-05, Vol.23 (5), p.437-440

2013

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Clinical, pathology and imaging heterogeneity in autosomal recessive RYR1 -related myopathy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S258-S258

2015

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Functional and gait assessment in children with Duchenne muscular dystrophy: Quantitative and functional evaluation

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S230-S231

2015

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A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues

European journal of paediatric neurology, 2018-07, Vol.22 (4), p.729-731

2018

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miRNAs as serum biomarkers for Duchenne muscular dystrophy: Correlation analysis in a multicentre study between miRNA levels and clinical status of DMD patients

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S252-S252

2015

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P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.788-788

2013

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W12.2 Mitochondrial encephalomyopathies: central nervous system involvement

Clinical neurophysiology, 2011, Vol.122, p.S38-S38

2011

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P24.10 Sleep disordered breathing in progressive external ophthalmoplegia

Clinical neurophysiology, 2011, Vol.122, p.S171-S171

2011

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Restless legs syndrome with periodic limb movements: a possible cause of idiopathic hyperCKemia

Neurology, 2009-08, Vol.73 (8), p.643-645

2009

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P3.1 Brown–Vialetto–Van Laere and Fazio Londe overlap sindromes: A clinical, biochemical and genetic study in 6 patients

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.682-682

2011

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P207 Scoliosis progression in spinal muscular atrophy type II and III: a comparative study between treated and untreated patients

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S86-S86

2023

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Long-Term Follow-Up of Two Siblings with a Non-Classic Infantile Variant Form of Pompe Disease

Journal of neuromuscular diseases, 2015, Vol.2 (s1), p.S70-S71

2015

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P3446Left-ventricular assist device as a destination therapy in Duchenne cardiomyopathy: are we ready to change the natural history?

European heart journal, 2019-10, Vol.40 (Supplement_1)

2019

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CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.228Severe nemaline myopathy manifesting as 'Amish phenotype' related to homozygous mutation in TNNT1

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S101-S101

2018

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CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S101

2018

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G.P.213 - Glutathione imbalance in blood of patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S250-S250

2015

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P.371Nusinersen treatment in spinal muscular atrophy: the experience of Bambino Gesù Children's Hospital

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S189-S190

2019

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P.123 - Scoliosis is an inescapable comorbidity in SMA type II. A single center experience

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S134-S134

2017

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Scoliosis is an inescapable comorbidity in SMA type II. A single center experience

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S134

2017

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G.P.240 - Clinical, pathology and imaging heterogeneity in autosomal recessive RYR1-related myopathy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S258-S258

2015

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G.P.152 - Functional and gait assessment in children with Duchenne muscular dystrophy: Quantitative and functional evaluation

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S230-S231

2015

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G.P.219 - miRNAs as serum biomarkers for Duchenne muscular dystrophy: Correlation analysis in a multicentre study between miRNA levels and clinical status of DMD patients

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S252-S252

2015

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Concerning RNA-guided gene drives for the alteration of wild populations

eLife, 2014-07, Vol.3

2014

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Glutathione imbalance in blood of patients with Duchenne muscular dystrophy

A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies

Clinical, pathology and imaging heterogeneity in autosomal recessive RYR1 -related myopathy

Functional and gait assessment in children with Duchenne muscular dystrophy: Quantitative and functional evaluation

miRNAs as serum biomarkers for Duchenne muscular dystrophy: Correlation analysis in a multicentre study between miRNA levels and clinical status of DMD patients

P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies

W12.2 Mitochondrial encephalomyopathies: central nervous system involvement

P24.10 Sleep disordered breathing in progressive external ophthalmoplegia

Restless legs syndrome with periodic limb movements: a possible cause of idiopathic hyperCKemia

P3.1 Brown–Vialetto–Van Laere and Fazio Londe overlap sindromes: A clinical, biochemical and genetic study in 6 patients

P207 Scoliosis progression in spinal muscular atrophy type II and III: a comparative study between treated and untreated patients

Long-Term Follow-Up of Two Siblings with a Non-Classic Infantile Variant Form of Pompe Disease

P3446Left-ventricular assist device as a destination therapy in Duchenne cardiomyopathy: are we ready to change the natural history?

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.228Severe nemaline myopathy manifesting as 'Amish phenotype' related to homozygous mutation in TNNT1

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

G.P.213 - Glutathione imbalance in blood of patients with Duchenne muscular dystrophy

P.371Nusinersen treatment in spinal muscular atrophy: the experience of Bambino Gesù Children's Hospital

P.123 - Scoliosis is an inescapable comorbidity in SMA type II. A single center experience

Scoliosis is an inescapable comorbidity in SMA type II. A single center experience

G.P.240 - Clinical, pathology and imaging heterogeneity in autosomal recessive RYR1-related myopathy

G.P.152 - Functional and gait assessment in children with Duchenne muscular dystrophy: Quantitative and functional evaluation

G.P.219 - miRNAs as serum biomarkers for Duchenne muscular dystrophy: Correlation analysis in a multicentre study between miRNA levels and clinical status of DMD patients

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions

Concerning RNA-guided gene drives for the alteration of wild populations

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