Published in F1000Res on October 31, 2014
The involvement of patient organisations in rare disease research: a mixed methods study in Australia. Orphanet J Rare Dis (2016) 0.98
Incentives for Starting Small Companies Focused on Rare and Neglected Diseases. Pharm Res (2015) 0.84
Taking Control of Castleman Disease: Leveraging Precision Medicine Technologies to Accelerate Rare Disease Research. Yale J Biol Med (2015) 0.76
Importance of an International Registry for and Collaborative Research on Esophageal Atresia. Front Pediatr (2017) 0.75
Collaborative drug discovery for More Medicines for Tuberculosis (MM4TB). Drug Discov Today (2016) 0.75
Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. N Engl J Med (2001) 24.51
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
How to improve R&D productivity: the pharmaceutical industry's grand challenge. Nat Rev Drug Discov (2010) 14.09
Effects of a selective inhibitor of the Abl tyrosine kinase on the growth of Bcr-Abl positive cells. Nat Med (1996) 13.49
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A (1999) 7.60
Lessons from 60 years of pharmaceutical innovation. Nat Rev Drug Discov (2009) 7.01
Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08
Clinical development success rates for investigational drugs. Nat Biotechnol (2014) 5.32
Computational repositioning of the anticonvulsant topiramate for inflammatory bowel disease. Sci Transl Med (2011) 5.30
Abl protein-tyrosine kinase inhibitor STI571 inhibits in vitro signal transduction mediated by c-kit and platelet-derived growth factor receptors. J Pharmacol Exp Ther (2000) 5.09
Pathway mapping tools for analysis of high content data. Methods Mol Biol (2007) 4.87
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature (2011) 4.04
Hoe 140 a new potent and long acting bradykinin-antagonist: in vitro studies. Br J Pharmacol (1991) 3.60
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet (2000) 3.35
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science (2014) 3.10
Efficacy and safety of adeno-associated viral vectors based on serotype 8 and 9 vs. lentiviral vectors for hemophilia B gene therapy. J Thromb Haemost (2006) 2.81
Hoe 140 a new potent and long acting bradykinin-antagonist: in vivo studies. Br J Pharmacol (1991) 2.72
Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol (1995) 2.56
Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med (2011) 2.56
Sanfilippo syndrome: a mini-review. J Inherit Metab Dis (2008) 2.35
Rapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice. J Neurosci (2010) 1.92
High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA Neurol (2013) 1.90
Enabling transparent and collaborative computational analysis of 12 tumor types within The Cancer Genome Atlas. Nat Genet (2013) 1.80
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest (2013) 1.79
In silico pharmacology for drug discovery: applications to targets and beyond. Br J Pharmacol (2007) 1.78
In silico pharmacology for drug discovery: methods for virtual ligand screening and profiling. Br J Pharmacol (2007) 1.77
The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases. Orphanet J Rare Dis (2011) 1.72
Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A. Nat Med (2014) 1.65
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest (2011) 1.62
Rare diseases and orphan drugs. Nat Rev Drug Discov (2012) 1.49
In silico repositioning of approved drugs for rare and neglected diseases. Drug Discov Today (2011) 1.45
Novel web-based tools combining chemistry informatics, biology and social networks for drug discovery. Drug Discov Today (2009) 1.40
The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated. Genet Med (2014) 1.33
Open Drug Discovery Teams: A Chemistry Mobile App for Collaboration. Mol Inform (2012) 1.32
Animal models of spinal muscular atrophy. Hum Mol Genet (2000) 1.30
Animal models of spinal muscular atrophy. J Child Neurol (2007) 1.25
Absolute bioavailability of imatinib (Glivec) orally versus intravenous infusion. J Clin Pharmacol (2004) 1.22
Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. Neuromuscul Disord (2007) 1.22
Database identifies FDA-approved drugs with potential to be repurposed for treatment of orphan diseases. Brief Bioinform (2011) 1.17
A generalizable pre-clinical research approach for orphan disease therapy. Orphanet J Rare Dis (2012) 1.16
Intramuscular scAAV9-SMN injection mediates widespread gene delivery to the spinal cord and decreases disease severity in SMA mice. Mol Ther (2013) 1.16
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. Brain (2006) 1.15
Assays for the identification and prioritization of drug candidates for spinal muscular atrophy. Assay Drug Dev Technol (2014) 1.13
Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial. BMC Med (2009) 1.12
The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models. Hum Mol Genet (2013) 1.09
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS One (2009) 1.09
Translational fidelity of intrathecal delivery of self-complementary AAV9-survival motor neuron 1 for spinal muscular atrophy. Hum Gene Ther (2014) 1.08
Many facets of the peripheral myelin protein PMP22 in myelination and disease. Microsc Res Tech (1998) 1.07
Giant axonal neuropathy. Cell Mol Life Sci (2007) 1.07
Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery. Drug Discov Today (2013) 1.07
Challenges and recommendations for obtaining chemical structures of industry-provided repurposing candidates. Drug Discov Today (2012) 1.05
Imatinib: a breakthrough of targeted therapy in cancer. Chemother Res Pract (2014) 1.04
The DcpS inhibitor RG3039 improves motor function in SMA mice. Hum Mol Genet (2013) 0.99
Networking for new drugs. Nat Med (2011) 0.97
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Mol Genet Genomic Med (2014) 0.96
The discovery of medicines for rare diseases. Future Med Chem (2014) 0.94
Autosomal dominant spinal muscular atrophy: a clinical and genetic study. J Neurol Sci (1978) 0.93
Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates. Hum Gene Ther Clin Dev (2014) 0.91
Expanding the scope of drug repurposing in pediatrics: the Children's Pharmacy Collaborative. Drug Discov Today (2014) 0.91
Pathogenic mechanisms of bradykinin mediated diseases: dysregulation of an innate inflammatory pathway. Adv Immunol (2014) 0.90
Bigger data, collaborative tools and the future of predictive drug discovery. J Comput Aided Mol Des (2014) 0.89
Oncogenic mutations of ALK in neuroblastoma. Cancer Sci (2011) 0.88
Finding promiscuous old drugs for new uses. Pharm Res (2011) 0.88
Identification of drug modulators targeting gene-dosage disease CMT1A. ACS Chem Biol (2012) 0.87
Alternative business models for drug discovery. Drug Discov Today (2011) 0.87
Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy. F1000Res (2014) 0.86
Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema. J Clin Invest (1987) 0.86
Molecular mechanisms and animal models of spinal muscular atrophy. Biochim Biophys Acta (2014) 0.85
Computational prediction and validation of an expert's evaluation of chemical probes. J Chem Inf Model (2014) 0.84
The Collaborative Drug Discovery (CDD) database. Methods Mol Biol (2013) 0.81
Strategy for genetic testing in Charcot-Marie-disease. Acta Myol (2011) 0.80
Ecallantide (Dyax/Genzyme). Curr Opin Investig Drugs (2006) 0.78
Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. J Peripher Nerv Syst (2012) 0.78
Vandetanib therapy in medullary thyroid cancer. Drugs Today (Barc) (2012) 0.78
The role of brain tumor advocacy groups. Curr Neurol Neurosci Rep (2014) 0.77
Hereditary angioedema: a brief review of new developments. Curr Med Res Opin (2014) 0.76
Recent advances in the management of hereditary angioedema. J Am Osteopath Assoc (2013) 0.76
Health privacy is difficult but not impossible in a post-HIPAA data-driven world. Chest (2014) 0.76
Drug discovery and repurposing at Memorial Sloan Kettering Cancer Center: chemical biology drives translational medicine. ACS Chem Biol (2014) 0.76
Relational databases for rare disease study: application to vascular anomalies. Arch Otolaryngol Head Neck Surg (2008) 0.76