A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)

(2018) Hasane Ratni et al.   JOURNAL OF MEDICINAL CHEMISTRY

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cardiac pathology in spinal muscular atrophy: a systematic review

(2017) C. A. Wijngaarde et al.   Orphanet Journal of Rare Diseases

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

(2017) Ingrid E. C. Verhaart et al.   Orphanet Journal of Rare Diseases

Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers

(2017) Manaswini Sivaramakrishnan et al.   Nature Communications

Drug metabolism by flavin-containing monooxygenases of human and mouse

(2016) Ian R. Phillips et al.   Expert Opinion on Drug Metabolism & Toxicology

Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset

(2016) Zhihua Feng et al.   HUMAN MOLECULAR GENETICS

Intrathecal Injections in Children With Spinal Muscular Atrophy

(2016) Manon Haché et al.   JOURNAL OF CHILD NEUROLOGY

Simultaneous determination of itraconazole, hydroxy itraconazole, keto itraconazole and N-desalkyl itraconazole concentration in human plasma using liquid chromatography with tandem mass spectrometry

(2016) Xiaorong Liang et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Safety, dosing, and pharmaceutical quality for studies that evaluate medicinal products (including biological products) in neonates

(2016) Robert M. Ward et al.   PEDIATRIC RESEARCH

Best practices for the use of itraconazole as a replacement for ketoconazole in drug-drug interaction studies

(2015) Lichuan Liu et al.   JOURNAL OF CLINICAL PHARMACOLOGY

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

(2015) S. Tisdale et al.   JOURNAL OF NEUROSCIENCE

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls

(2015) Christian Czech et al.   PLoS One

Bayesian adaptive designs in single ascending dose trials in healthy volunteers

(2014) David Guédé et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology

(2014) Melissa Bowerman et al.   HUMAN MOLECULAR GENETICS

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

Childhood spinal muscular atrophy: controversies and challenges

(2012) Eugenio Mercuri et al.   LANCET NEUROLOGY

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

Of SMN in mice and men: a therapeutic opportunity

(2011) Kathryn J. Swoboda   JOURNAL OF CLINICAL INVESTIGATION

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE