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Author Details

Petra Kaufmann
Novartis Gene Therapies
1994
121
45
PMIDPaper TitleJournal TitlePublished Year
34608334Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue.Nat Med2021
31873296A call for global action for rare diseases in Africa.Nat Genet2020
31388602Resources to assist in the transition to a single IRB model for multisite clinical trials.Contemp Clin Trials Commun2019
30059313Privacy-Preserving Linkage of Genomic and Clinical Data Sets.IEEE/ACM Trans Comput Biol Bioinform2019
28796411Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.Clin Transl Sci2018
30400963From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.Orphanet J Rare Dis2018
28796445Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.Clin Transl Sci2018
27782107'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.Eur J Hum Genet2017
28271602Early Vision for the CTSA Program Trial Innovation Network: A Perspective from the National Center for Advancing Translational Sciences.Clin Transl Sci2017
28475856International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Am J Hum Genet2017
29158551The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.Eur J Hum Genet2017
28983837Treatment Advances in Spinal Muscular Atrophy.Curr Neurol Neurosci Rep2017
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
29214568Facilitating Clinical Studies in Rare Diseases.Adv Exp Med Biol2017
26776503Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.Neuromuscul Disord2016
27974039Transforming Evidence Generation to Support Health and Health Care Decisions.N Engl J Med2016
25384682Commonalities and challenges in the development of clinical trial measures in neurology.Neurotherapeutics2015
26111847Old measures and new scores in spinal muscular atrophy patients.Muscle Nerve2015
25846132Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.Muscle Nerve2015
25902795The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.Orphanet J Rare Dis2015
25406606Central institutional review board review for an academic trial network.Acad Med2015
25608934Erratum to: Commonalities and Challenges in the Development of Clinical Trial Measures in Neurology.Neurotherapeutics2015
23893312The motor neuron response to SMN1 deficiency in spinal muscular atrophy.Muscle Nerve2014
27858770What got us here will not get us there.J Neuromuscul Dis2014
25080519Observational study of spinal muscular atrophy type I and implications for clinical trials.Neurology2014
24935909Reply: To PMID 23893312.Muscle Nerve2014
24503669Carotid intervention: is it warranted in asymptomatic individuals if risk factors are aggressively managed?Stroke2014
24477106Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers.Neurology2014
22772161Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy.J Child Neurol2013
23678881Funding agencies and disease organizations: resources and recommendations to facilitate ALS clinical research.Amyotroph Lateral Scler Frontotemporal Degener2013
23678880Infrastructure resources for clinical research in amyotrophic lateral sclerosis.Amyotroph Lateral Scler Frontotemporal Degener2013
23452274Body mass index (BMI) as predictor of ALSFRS-R score decline in ALS patients.Amyotroph Lateral Scler Frontotemporal Degener2013
23565191SMA-MAP: a plasma protein panel for spinal muscular atrophy.PLoS One2013
23239403Common data elements for clinical research in Friedreich's ataxia.Mov Disord2013
22157858Neuroscience networking: linking discovery to drugs.Neuropsychopharmacology2012
23447712Strength, Hardening, and Failure Observed by In Situ TEM Tensile Testing.Adv Eng Mater2012
23077013Prospective cohort study of spinal muscular atrophy types 2 and 3.Neurology2012
22467740Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2.J Child Neurol2012
22558154Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study.PLoS One2012
22558076Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study.PLoS One2012
22548622Clinical research for neuropathies.J Peripher Nerv Syst2012
20929908Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy.J Child Neurol2011
22094475Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.Neurology2011
22006684Adding more muscle and nerve to clinical trials.Muscle Nerve2011
22090068Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND).Pediatr Phys Ther2011
21835664Down syndrome: national conference on patient registries, research databases, and biobanks.Mol Genet Metab2011
21940700Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III.J Child Neurol2011
21885845Efficiency perspectives on adaptive designs in stroke clinical trials.Stroke2011
21572051Thigh muscle volume measured by magnetic resonance imaging is stable over a 6-month interval in spinal muscular atrophy.J Child Neurol2011
21320981Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.Arch Neurol2011
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St. George's University Medical School
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National Institute of Neurological Disorders and Stroke
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National Center for Advancing Translational Sciences, National Institutes of Health
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Ruxandra Draghia-Akli
The Janssen Pharmaceutical Companies of Johnson & Johnson
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Kate Bushby
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 2
Douglas A Kerr
Johns Hopkins University School of Medicine
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Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
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Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
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Michael Brudno
University of Toronto
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Makoto Suematsu
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Release 1.2