NP-C Natural History Study and proposed Drug Trial
Contacts: Forbes “Denny” Porter and Nicole Yanjanin
National Institutes of Health
E-Mail: fdporter@mail.nih.gov
E-Mail: nyanjanin@mail.nih.gov
Dr. Porter - Phone: (301) 594-1765
Nicole Yanjanin - Phone: (301) 435-4432
NP-C Cat Colony at UPENN
Contacts: Charles Vite and Mark Haskins, University of Pennsylvania School of Veterinary Medicine
E-Mail: vite@vet.upenn.edu
E-Mail: mhaskins@vet.upenn.edu
Contact: Steve Walkley, Albert Einstein College of Medicine of Yeshiva University
E-Mail: walkley@aecom.yu.edu
BC-Theta – High Quality Cholesterol-binding Reagent
Contact: Yoshiko Iwashita, Tokyo Metropolitan Institute of Gerontology
E-Mail: iwashita@tmig.or.jp
NP-C Mice - NMF164 subline
Contact: Bob Maue, Dartmouth Medical School
E-Mail: Robert.Maue@Dartmouth.edu
Contract: Robert Burgess, The Jackson Laboratory
E-Mail: Robert.burgess@jax.org
NP-C Adenovirus
Contact: Bob Maue, Dartmouth Medical School
E-Mail: Robert.Maue@Dartmouth.edu
NP-C Mice with Purkinje Cells Expressing GFP
Contact: Bob Maue, Dartmouth Medical School
E-Mail: Robert.Maue@Dartmouth.edu
NP-C Cell Lines
Contact: Donald Coppock, Corriell Cell Repository
E-Mail: dcoppock@coriell.org
NP-C Tissue
Contact: Melissa Larkins, University of Maryland Brain and Tissue Bank for Developmental Disorders
E-Mail: BTBank.org
PH: 1-800-847-1539
E-Mail: mlark001@umaryland.edu
Director: H. Ronald Zielke, Ph.D.
NP-C Microarray Data
Contact: Suzanne Pfeffer, Stanford University
E-Mail: pfeffer@cmgm.standford.edu
NP-C Imaging Studies
Contacts: Robert Erickson and Ted Trouard, University of Arizona
E-Mail: Erickson@peds.arizona.edu
E-Mail: Trouard@email.arizona.edu
Chemistry Core for NP-C Drug Development
Contacts: Paul Helquist and Olaf Wiest
E-Mail: phelquis@nd.edu
E-Mail: owiest@nd.edu
NP-C Diagnostic Testing
Contact: John O’Brien, Mayo Clinic, Biochemical Genetics Laboratory, (Rochester, MN)
E-Mail: Obrien.john@mayo.edu
Contact: David Wenger, Thomas Jefferson University, Lysosomal Diseases Testing Laboratory
E-Mail: David.wenger@jefferson.edu
NP-C Genetic Counseling and Information
Contact: Cate Walsh-Vockley, PH: 412-692-7349
E-Mail: catherine.walshvockley@chp.edu
NP-C Mutational Analysis
Contact: John O'Brien, Mayo Clinic, Biochemical Genetics Laboratory.
E-Mail: Obrien.john@mayo.edu
Contact: GeneDX at www.genedx.com/services/dis_npc.php
NP-C Carrier Testing
Contact: Brittany Thomas or Brian Dawson, Mayo Molecular Genetics Laboratory Rochester, MN)
PH: 507-538-9163
thomas.brittany@mayo.edu
Contact: Cate Walsh-Vockley, PH: 412-692-7349
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