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The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence

Acta myologica, 2018-12, Vol.37 (4), p.241-251

2018

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Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

Journal of clinical medicine, 2021-05, Vol.10 (10), p.2063

2021

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Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

Cells (Basel, Switzerland), 2020-06, Vol.9 (6), p.1532

2020

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Technology outcome measures in neuromuscular disorders: A systematic review

European journal of neurology, 2022-04, Vol.29 (4), p.1266-1278

2022

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NXP2-positive dermatomyositis: A challenging subgroup of inflammatory myopathies

Journal of the neurological sciences, 2021-10, Vol.429, p.118344, Article 118344

2021

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Hereditary motor sensory neuropathy with proximal involvement ( HMSN‐P ) associated with TFG p. Pro285Leu variant in an Italian family with a motor neuron disease‐like clinical picture

Muscle & nerve, 2024-06, Vol.69 (6), p.730-732

2024

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Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture

Muscle & nerve, 2024-06, Vol.69 (6), p.730-732

2024

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Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Lancet neurology, 2021-12, Vol.20 (12), p.1012-1026

2021

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Characteristics of Pompe disease patients with and without the c.-32-13 T > G (IVS1) variant: Data from the Pompe Registry

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S16-S16

2020

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A case of histological diagnosis of Toxoplasma gondii myositis in a person living with HIV

Le infezioni in medicina, 2023, Vol.31 (3), p.407-410

2023

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Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

The lancet child & adolescent health, 2022-01, Vol.6 (1), p.28-37

2022

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6MWT as measure of motor function and endurance in SMA type 3 patients treated with nusinersen

Journal of the neurological sciences, 2021-10, Vol.429, p.119385, Article 119385

2021

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Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey

Journal of neuromuscular diseases, 2023-01, Vol.10 (2), p.173-184

2023

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Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture

Muscle & nerve, 2024, Vol.69 (6), p.730-732

2024

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Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach

Neuromuscular disorders : NMD, 2019-10, Vol.29 (10), p.742-746

2019

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Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade

European journal of neurology, 2024-01, Vol.31 (1), p.e16060-n/a

2024

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Motor Outcome Measures in Pediatric Patients with Congenital Muscular Dystrophies: A Scoping Review

Applied sciences, 2023-01, Vol.13 (2), p.1204

2023

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

PloS one, 2014-10, Vol.9 (10), p.e108205-e108205

2014

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

Neuromuscular disorders : NMD, 2014-03, Vol.24 (3), p.201-206

2014

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

PloS one, 2016-03, Vol.11 (3), p.e0151445

2016

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Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents

Journal of clinical medicine, 2021-10, Vol.10 (20), p.4777

2021

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The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

Technology outcome measures in neuromuscular disorders: A systematic review

NXP2-positive dermatomyositis: A challenging subgroup of inflammatory myopathies

Hereditary motor sensory neuropathy with proximal involvement ( HMSN‐P ) associated with TFG p. Pro285Leu variant in an Italian family with a motor neuron disease‐like clinical picture

Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial

Characteristics of Pompe disease patients with and without the c.-32-13 T > G (IVS1) variant: Data from the Pompe Registry

A case of histological diagnosis of Toxoplasma gondii myositis in a person living with HIV

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

6MWT as measure of motor function and endurance in SMA type 3 patients treated with nusinersen

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey

Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture

Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data

Motor Outcome Measures in Pediatric Patients with Congenital Muscular Dystrophies: A Scoping Review

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

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

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

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

Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents

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