“Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being

Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4

(2018) R. I. Wadman et al.   EUROPEAN JOURNAL OF NEUROLOGY

Nusinersen for SMA: expanded access programme

(2018) Michelle A Farrar et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Social participation of adult patients with spinal muscular atrophy: frequency, restrictions, satisfaction and correlates

(2018) Esther Th. Kruitwagen-van Reenen et al.   MUSCLE & NERVE

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

(2018) Richard S. Finkel et al.   NEUROMUSCULAR DISORDERS

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

(2018) Eugenio Mercuri et al.   NEUROMUSCULAR DISORDERS

Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis of Australian carer perspectives

(2018) Michelle A Farrar et al.   BMJ Open

Sustained long-term benefits of a psycho-educational intervention targeting fear of cancer recurrence in people at high risk of developing another melanoma: A randomised controlled trial.

(2018) Mbathio Dieng et al.   JOURNAL OF CLINICAL ONCOLOGY

Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA)

(2018) Phillip Mongiovi et al.   NEUROLOGY

Health care use during cancer survivorship: Review of 5 years of evidence

(2018) Kelly M. Kenzik   CANCER

Evidence in focus: Nusinersen use in spinal muscular atrophy

(2018) David Michelson et al.   NEUROLOGY

A multi-source approach to determine SMA incidence and research ready population

(2017) Ingrid E. C. Verhaart et al.   JOURNAL OF NEUROLOGY

Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients

(2017) Françoise Rouault et al.   NEUROMUSCULAR DISORDERS

Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain

(2017) Julio López-Bastida et al.   Orphanet Journal of Rare Diseases

Living with illness and self-transcendence: the lived experience of patients with spinal muscular atrophy

(2016) Hsin-Mei Ho et al.   JOURNAL OF ADVANCED NURSING

Psychoeducational Intervention to Reduce Fear of Cancer Recurrence in People at High Risk of Developing Another Primary Melanoma: Results of a Randomized Controlled Trial

(2016) Mbathio Dieng et al.   JOURNAL OF CLINICAL ONCOLOGY

Correlates of health related quality of life in adult patients with spinal muscular atrophy

(2016) Esther Th Kruitwagen-Van Reenen et al.   MUSCLE & NERVE

Disease burden of spinal muscular atrophy in Germany

(2016) Constanze Klug et al.   Orphanet Journal of Rare Diseases

Survey of healthcare experiences of Australian adults living with rare diseases

(2016) Caron Molster et al.   Orphanet Journal of Rare Diseases

From tokenism to empowerment: progressing patient and public involvement in healthcare improvement

(2016) Josephine Ocloo et al.   BMJ Quality & Safety

Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study

(2015) Ying Qian et al.   BMC Neurology

Innovation by patients with rare diseases and chronic needs

(2015) Pedro Oliveira et al.   Orphanet Journal of Rare Diseases

Patients and staff as codesigners of healthcare services

(2015) G. Robert et al.   BMJ-British Medical Journal

Patients and staff as codesigners of healthcare services

(2015) G. Robert et al.   BMJ-British Medical Journal

Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel–Lindau disease

(2014) Nadine A Kasparian et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A systematic review of evidence on the links between patient experience and clinical safety and effectiveness

(2013) Cathal Doyle et al.   BMJ Open

Mapping the impact of patient and public involvement on health and social care research: a systematic review

(2012) Jo Brett et al.   HEALTH EXPECTATIONS

How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction

(2012) Karolina Budych et al.   HEALTH POLICY

Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy

(2012) Michelle A. Farrar et al.   JOURNAL OF PEDIATRICS

Improving the transition between paediatric and adult healthcare: a systematic review

(2011) R Crowley et al.   ARCHIVES OF DISEASE IN CHILDHOOD

The impact of patient and public involvement on UK NHS health care: a systematic review

(2011) C. Mockford et al.   INTERNATIONAL JOURNAL FOR QUALITY IN HEALTH CARE

Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy

(2010) A Febrer et al.   JOURNAL OF REHABILITATION MEDICINE

Living and ageing with spinal muscular atrophy type 2: Observations among an unexplored patient population

(2010) Joergen Jeppesen et al.   Developmental Neurorehabilitation

Understanding the Experience of Living with Spinal Muscular Atrophy

(2009) Connie Lamb et al.   JOURNAL OF NEUROSCIENCE NURSING

Transition process of patients with type 1 diabetes (T1DM) from paediatric to the adult health care service: a hospital-based approach

(2008) F. Cadario et al.   CLINICAL ENDOCRINOLOGY

Why rare diseases are an important medical and social issue

(2008) Arrigo Schieppati et al.   LANCET

Clinical research for rare disease: Opportunities, challenges, and solutions

(2008) Robert C. Griggs et al.   MOLECULAR GENETICS AND METABOLISM

Natural history of SMA IIIb: Muscle strength decreases in a predictable sequence and magnitude

(2008) F. Deymeer et al.   NEUROLOGY