Discover open access scientific publications

Search, annotate, share and cite publications

Publications by J Pearn

Incidence, Prevalence, and Gene Frequency Studies of Chronic Childhood Spinal Muscular Atrophy.

Journal of Medical Genetics

English

Related publications

Spinal Muscular Atrophy Type 1

Pediatric Critical Care Medicine

Intensive Care Medicine

English

Social Participation of Adult Patients With Spinal Muscular Atrophy: Frequency, Restrictions, Satisfaction and Correlates

Muscle and Nerve

Molecular Neuroscience

English

Current and Future Treatments of Spinal Muscular Atrophy

Developmental Medicine and Child Neurology

Developmental Neuroscience

English

Autonomic Dysfunction in Spinal Muscular Atrophy

Turkiye Klinikleri Pediatri

English

Carrier Screening for Spinal Muscular Atrophy

Genetics in Medicine

English

A Mixed Methods Exploration of Families’ Experiences of the Diagnosis of Childhood Spinal Muscular Atrophy

European Journal of Human Genetics

English

Perspectives and Diagnostic Considerations in Spinal Muscular Atrophy

Genetics in Medicine

English

Section 7: Spinal Muscular Atrophy and Home Ventilation

Canadian Journal of Respiratory, Critical Care, and Sleep Medicine

English

Spinal Muscular Atrophy: Development and Implementation of Potential Treatments

Annals of Neurology

English