P. Kaufmann

发表

Neuroscience Networking: Linking Discovery to Drugs

J. Heemskerk, R. Farkas, P. Kaufmann, 2012, Neuropsychopharmacology.

Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Christine M. Cutillo, S. Terry, C. Austin, 2017, Clinical and translational science.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Peter N. Robinson, A. Philippakis, M. Hurles, 2017, American journal of human genetics.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Faye L. Bowman, M. Brudno, T. Groza, 2017, Advances in experimental medicine and biology.

‘IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

Christopher P Austin, Hanns Lochmüller, Kym M Boycott, 2016, European Journal of Human Genetics.

Common data elements for clinical research in Friedreich's ataxia

K. Fischbeck, P. Kaufmann, S. Perlman, 2013, Movement disorders : official journal of the Movement Disorder Society.

Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective

Christine M. Cutillo, C. Austin, P. Kaufmann, 2017, Clinical and translational science.

Model consent clauses for rare disease research

B. Knoppers, P. Kaufmann, J. Goldblatt, 2019, BMC Medical Ethics.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

C. Austin, P. Kaufmann, P. Lasko, 2017, European Journal of Human Genetics.

Central institutional review board review for an academic trial network.

P. Kaufmann, P. P. O'Rourke, Petra Kaufmann, 2015, Academic medicine : journal of the Association of American Medical Colleges.

From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research

Anne R. Pariser, C. Austin, P. Kaufmann, 2018, Orphanet Journal of Rare Diseases.

ALS Research Group (ALSRG): Second meeting, a summary report

P. Kaufmann, Hiroshi Mitsumoto For The Alsrg Database Task Force, Steer, 2006, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Adding more muscle and nerve to clinical trials

R. Conwit, P. Kaufmann, J. Porter, 2011, Muscle & nerve.

Facilitating Clinical Studies in Rare Diseases.

P. Kaufmann, R. Gopal‐Srivastava, 2017, Advances in experimental medicine and biology.

Funding agencies and disease organizations: Resources and recommendations to facilitate ALS clinical research

L. Bruijn, P. Kaufmann, S. Bidichandani, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

H. Morizono, R. Finkel, Y. Hathout, 2017, Neuromuscular Disorders.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

C. Austin, P. Kaufmann, P. Lasko, 2017, European Journal of Human Genetics.

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

P. Kaufmann, Hanns Lochmüller, K. Boycott, 2016, European Journal of Human Genetics.

Down syndrome: national conference on patient registries, research databases, and biobanks.

J. Krischer, S. Terry, P. Kaufmann, 2011, Molecular genetics and metabolism.

Commonalities and Challenges in the Development of Clinical Trial Measures in Neurology

M. Carrillo, G. Stebbins, D. Cella, 2014, Neurotherapeutics.

Efficiency perspectives on adaptive designs in stroke clinical trials.

P. Kaufmann, Ken Cheung, Petra Kaufmann, 2011, Stroke.

Early Vision for the CTSA Program Trial Innovation Network: A Perspective from the National Center for Advancing Translational Sciences

Tiina K. Urv, P. Kaufmann, T. Urv, 2017, Clinical and translational science.

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

J. Mendell, K. Bushby, K. Flanigan, 2015, Neuromuscular Disorders.

Model consent clauses for rare disease research

B. Knoppers, P. Kaufmann, J. Goldblatt, 2019, BMC medical ethics.

A call for global action for rare diseases in Africa

Shuyang Zhang, C. Austin, C. Nellåker, 2019, Nature Genetics.

Carotid intervention: is it warranted in asymptomatic individuals if risk factors are aggressively managed?

P. Kaufmann, W. Koroshetz, Katherine Pahigiannis, 2014, Stroke.