Chiara Bettolo-Marini

Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 73 publications

Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy.

Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy.

Journal: Journal of neuromuscular diseases
Published: March 14, 2026

Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care.

Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care.

Journal: Neuromuscular disorders : NMD
Published: December 22, 2025

Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study.

Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study.

Journal: Neuromuscular disorders : NMD
Published: December 12, 2025

Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.

Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.

Journal: Journal of neurology, neurosurgery, and psychiatry
Published: October 31, 2025

Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.

Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.

Journal: Neuromuscular disorders : NMD
Published: October 10, 2025

Motor unit magnetic resonance imaging (MUMRI) as a novel biomarker of muscle activity in spinal muscular atrophy.

Motor unit magnetic resonance imaging (MUMRI) as a novel biomarker of muscle activity in spinal muscular atrophy.

Journal: Neuromuscular disorders : NMD
Published: September 16, 2025

Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.

Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.

Journal: Annals of clinical and translational neurology
Published: August 22, 2025

Corrigendum to "Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review" [NMD, volume 49, article 105341].

Corrigendum to "Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review" [NMD, volume 49, article 105341].

Journal: Neuromuscular disorders : NMD
Published: May 23, 2025

Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness.

Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness.

Journal: Neurology. Genetics
Published: April 09, 2025

International collaboration to improve knowledge on myotonic dystrophy type 2.

International collaboration to improve knowledge on myotonic dystrophy type 2.

Journal: Journal of neuromuscular diseases
Published: February 20, 2025

Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders.

Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders.

Journal: Neurology. Clinical practice
Published: February 10, 2025

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

Journal: Brain : a journal of neurology
Published: January 27, 2025
Showing 1-12 of 73

Last Updated: 09/26/2026