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United States

California

Principal Investigator: Richard Lewis, MD

Contact Information:

Tara Jones, MS, LCGC
Phone: 310-423-4268
E-mail: tara.jones@cshs.org

Principal Investigator: John Day, MD, PhD

Contact Information:

Carly E. Siskind, MS, CGC
Phone: 650-721-5588
E-mail: csiskind@stanfordmed.org

Colorado

UOC

Principal Investigator: Vera Fridman, MD

Contact Information:

Briana Blume
Office: 303-427-6386
E-mail: brianna.blume@ucdenver.edu

Connecticut

Principal Investigator: Gyula Acsadi, MD, PhD

Contact Information:

Ashley Kosikowski
Office: 860-837-5871
E-mail: akosikowski@connecticutchildrens.org

Florida

Principal Investigator: Mario Saporta, MD, PhD

Contact Information:

Lisa Abreu, MPH
Clinical Project Manager

Office: 305-243-2550
E-mail: labreu@med.miami.edu

*This site does not see or enroll patients

John P. Hussman Institute for Human Genomics
1501 NW 10th Avenue
Suite 523, LC: M-860
Miami, FL 33136

Principal Investigator: Stephan Züchner, MD
E-mail: szuchner@med.miami.edu

Contact Information: 

Lisa Abreu 
Clinical Research Coordinator

Office: 305-243-2550 
E-mail: labreu@med.miami.edu

*Note: This location is enrolling up to age 18 only

Principal Investigator: Richard Finkel, MD

Contact Information: 

Aixa Rodriguez
407-650-6202
E-mail: aixa.rodriguez@nemours.org

Iowa

Principal Investigator: Michael Shy, MD

Contact Information: 

Shawna Feely, MS, CGC
Phone: 319-384-6362
E-mail: Shawna-Feely@uiowa.edu

UICMTClinic@uiowa.edu

Maryland

Principal Investigator: Thomas Lloyd MD, PhD
E-mail: tlloyd4@jhmi.edu

Contact Information: 

Simone Thomas
Research Program Assistant II 
Phone: 410-614-4188 
E-mail: sthom125@jhmi.edu

Massachusetts

Principal Investigator: Dr. Reza Seyedsadjadi, MD

Contact Information: 

Natalie Grant
Phone: 617-726-0230
E-mail: nrgrant@mgh.harvard.edu

Michigan

*This site is no longer recruiting participants for the Inherited Neuropathies Consortium.

*This site is no longer recruiting participants for the Inherited Neuropathies Consortium.

Minnesota

Principal Investigator: David Walk, MD

Contact Information: 

Krista Mullen
Phone: 612-626-5153
E-mail: ness0153@umn.edu

New York

Department of Neurology
601 Elmwood Avenue, Box 673
Rochester, NY 14627

Principal Investigator:  David Herrmann, MD
E-mail: david_herrmann@urmc.rochester.edu

Co-Principle Investigators:
Eric Logigian, M.D.
Michael Stanton, M.D.

Sub-Investigators
Katy Eichinger, PT, DPT, NCS.
Debra Guntrum, MS, FNP.
Cindy Gibson, MS, NP.

Contact Information: 

Janet Sowden 
Protocol Coordinator
janet_sowden@urmc.rochester.edu
Office: 585-275-1267 
Fax: 585-273-1255

Pennsylvania

University of Pennsylvania
450 Stemmler Hall
3450 Hamilton Walk
Philadelphia, PA  19104

Principal Investigator: Steven Scherer, MD, PhD
E-mail: sscherers@mail.med.upenn.edu

Contact Information: 

Diana Lee
Research Coordinator
Phone: 215-898-0180
E-mail: diana.lee@uphs.upenn.edu

Principal Investigator: Sabrina Yum, MD
Yums@email.chop.edu

Contact Information:

Sabrina Yum, MD
E-mail: yums@email.chop.edu

International Sites

Australia

Primary Investigator: Joshua Burns, Ph.D.
Phone: +61 2 9845 1228
E-mail: joshuab2@chw.edu.au

Contact Information:

Gabrielle Donlevy
Study Coordinator
Phone: +61 2 9845 1328
E-mail: gabrielle.donlevy@health.nsw.gov.au 

Italy

Primary Investigator: Davide Pareyson, MD

Co-Investigator: Isabella Moroni, MD 

Sub-Investigator: Chiara Pisciotta, MD, PhD

Contact Information: 

Daniela Calabrese
Research Protocol Assistant
Phone: (+39) 02-2394.3001
E-mail: Daniela.Calabrese@istituto-besta.it 

United Kingdom

MRC Centre for Neuromuscular Diseases
Department of Molecular Neurosciences
UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery
Queen Square, London WC1N 3BG, UK.

Primary Investigator: Mary M Reilly
Phone: 0044 8451555000 ext.88457
E=mail: m.reilly@ion.ucl.ac.uk

Co-Investigator:
Matilde Laurá, MD
Phone: 0044 203 448 8024
E-mail: m.laura@.ucl.ac.uk

Contact Information: 

Mariola Skorupinska
Specialist Research Nurse 
Phone: 0044 203 108 7544
E-mail: Mariola.Skorupinska@uclh.nhs.uk

Dubowitz Neuromuscular Centre, 1st Floor
UCL Institute of Child Health
30 Guilford St
London WC1N 1EH
United Kingdom

Primary Investigator: Francesco Muntoni
E-mail: f.muntoni@ich.ucl.ac.uk

Contact Information: 

Hinal Patel
Clinical Trials Coordinator
Phone: + 44 (0) 2020 7905 2639 (Ext: 2639)
E-mail: hinal.patel@ucl.ac.uk

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