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Locate A Provider
If you are a healthcare provider with expertise and/or interest in RYR-1-related diseases, please contact us.
United States:
CALIFORNIA
Los Angeles, CA
Perry Shieh, M.D. Ph.D.
Telephone: 310-794-1195
Fax: 310-794-7491
UCLA Medical Center
UCLA Neurological Services
300 UCLA Medical Plaza B-200
Los Angeles, CA 90095
Orange County, CA
Tahseen Mozaffar, MD FAAN, FANA & Namita Goyal, MD
Telephone: (714) 456-2332
Fax: (714) 456-5997
Email: mozaffar@uci.edu
UC Irvine-MDA ALS and Neuromuscular Center
UC Irvine Medical Center’s Manchester Pavilion
200 S. Manchester Avenue, Suite 110
Orange, CA 92868
Palo Alto, CA
John W. Day, MD, PhD
Karolina Watson, Nurse Practitioner
Jennifer Fisher, Neuromuscular Community Outreach Liaison
Telephone/ New Patients/Adults: 650-723-6469
Telephone/ New Patients/Children:650-723-0993
Telephone for Neuromuscular Clinic’s Outreach Liaison: 650-497-5934
Fax: 650.725.4197
Email: jnfisher@stanford.edu
Division of Neuromuscular Medicine
Stanford Neuroscience Health Center
213 Quarry Road
Mail Code 4841
Palo Alto, CA 94304
Telephone: 650-497-5934
San Diego, CA
Chamindra Konersman, MD
Telephone: 858-966-5819
Adult and Pediatric Neuromuscular Specialist
UCSD, VA San Diego Health System, and Rady Children's Hospital
3020 Children’s Way MC 5009
San Diego, CA 92123
COLORADO
Aurora, CO
Julie A. Parsons, MD
Alison Ballard, PNP (Clinic Coordinator)
Telephone: 720-777-8723
Fax: 720-777-7285
Email: julie.parsons@childrenscolorado.org
Children's Hospital Colorado Neuromuscular Clinic
13123 E. 16th Ave, B-155
Aurora, CO 80045
Melissa Wright, MD, PhD
Alison Ballard, PNP (Clinic Coordinator)
Telephone: 720-777-8723
Fax: 720-777-7285
Email: melissa.wright@childrenscolorado.org
Matthew P. Wicklund, MD
Office Phone: 303-724-2188
Fax: 303-724-2202
Email: matthew.wicklund@UCDenver.edu
University of Colorado School of Medicine
Department of Neurology
12631 East 17th Avenue
Room 5113 C Campus Box B185
Aurora, CO 80045
FLORIDA
Gainesville, FL
Carla Zingariello, DO
Bayleigh Dowling (Clinic Coordinator)
Telephone: (352) 273-8920
Fax: (352) 294-8067
Email: bdowling@peds.ufl.edu
University of Florida
Department of Pediatrics
Division of Neurology
PO Box 100296
Gainesville, FL 32610
MARYLAND
Baltimore, MD
Kathryn Wagner, MD, PhD
Angie Lasseth (Clinic Coordinator)
Telephone: 443-923-9525
Email: Lasseth@kennedykrieger.org
Center for Genetic Muscle Disorders
707 North Broadway
Baltimore, MD 21205
Web address: http://kennedykrieger.org/patient-care/patient-care-centers/center-genetic-muscle-disorders/programs-services
Thomas O. Crawford, MD
Theresa Cox (Clinic Coordinator)
Telephone: 410-955-6435
Email: thutson2@jhmi.edu
The Johns Hopkins Center for Inherited Neuromuscular Disease
600 N. Wolfe St.
Meyer 5-119
Baltimore, MD 21287
Web address: http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/muscular_dystrophy/
Bethesda, MD
Carsten G. Bönnemann, MD & Sandra Donkervoort, MS,CGC
Telephone: 301-496-0272
Fax: 301-480-3007
National Institutes of Health
National Institute of Neurological Disorders and Stroke Neurogenetics Branch Neuromuscular and Neurogenetic Disorders of Childhood Section
10 Center Drive
CRC, Room 12N210, MSC 1477
Bethesda, MD 20892-1477
MASSACHUSETTS
Boston, MA
Alan Beggs, PhD
Telephone: 617-919-2169
Fax: 617-730-0786
Email: BeggsLab@enders.tch.harvard.edu
Boston Children’s Hospital
3 Blackfan Circle
CLSB 15031
Boston, MA 02115
Beggs Lab website: www.childrenshospital.org/research-and-innovation/research-labs/beggs-laboratory
Dr. Basil Darras
Shani Barnett (Clinic Coordinator)
Telephone for Dr. Basil Darras: 617-355-8235
Telephone for Shani Barnett: 617-355-8235
Boston Children's Hospital
Department of Neurology
Fegan, 11th Floor
Boston, Massachusetts 02115
MISSOURI
Columbia, MO
Raghav Govindarajan, M.D.
Telephone: 573-882-3135
Department of Neurology
1020 Hitt Street DC 120.00
Columbia Missouri 65201
NEW JERSEY
Morristown, NJ
Jahannaz Dastgir, DO
Telephone: 973-971-5700
Fax: 973-290-7417
Email: jahannaz.dastgir@atlantichealth.org
Goryeb Children's Hospital
100 Madison Ave.
Morristown, NJ 07960
NEW YORK
Buffalo, NY
Nicholas J. Silvestri, MD, FAAN
Rachel Shepard (Clinic Coordinator)
Office phone: 716-932-6080
Fax: 716-332-4245
Department of Neurology, University at Buffalo Jacobs School of Medicine & Biomedical Sciences
1001 Main St
Buffalo, NY 14203
New York, NY
Michio Hirano, MD
Kris Engelstad (Clinical Coordinator)
Telephone: 212-406-6834
Email: ke4@columbia.edu
Columbia University Medical Center
630 West 168th Street
P & S 4-423
New York, NY 10032
OHIO
Columbus, OH
Kevin Flanigan, MD
Rita Peirano (Clinic Coordinator)
Telephone: 614-722-2203
Email: rita.peirano@nationwidechildrens.org
MDA and Neuromuscular Clinics (adult and pediatric patients) & Center for Gene Therapy
Nationwide Children’s Hospital
700 N. Children’s Drive
Columbus, Ohio 43205
PENNSYLVANIA
Philadelphia, PA
Sabrina Yum, MD, Livija Medne, MS, CGC, John Brandsema, MD, Elizabeth Kichula, MD, PhD, & Vanessa Battista, RN, MS, CPNP-PC
Robyn Ruggia – Clinic Coordinator
Telephone: 215-590-1719
Fax: 215-590-1771
Email: neuromuscular@email.chop.edu
Children's Hospital of Philadelphia
3401 Civic Center Blvd
Philadelphia, PA 19104
Pittsburgh, PA
Paula Clemens, MD, Rebecca Molcza, CRNP (Adult patients only)
Telephone: 412-692-4920
Fax: 412-647-8398
Email: molcrs@upmc.edu
University of Pittsburgh Medical Center
S520 Biomedical Science Tower
200 Lothrop Street
Pittsburgh, PA 15213
Pittsburgh, PA
Hoda Z. Abdel-Hamid, MD, Deanna Steele, LGC
Telephone: 412-692-6106
Fax: 412-692-6787
Email: Deanna.Steele@chp.edu
UPMC Children’s Hospital of Pittsburgh
4401 Penn Avenue, FP 8106
Pittsburgh PA, 15224
TEXAS
Houston, TX
Lydia Sharp, M.D.
Telephone: 713-798-2273
Coordinator (Lauren Lee): 713-798-1373
Fax: 713-798-7709
Email: LydiaJane.Sharp@bcm.edu
Coordinator email (Blanca Arevalo): Blanca.Arevalo@bcm.edu
Baylor College of Medicine
Department of Neurology
7200 Cambridge St. Suite 9A
Houston, Texas 77030
Australia:
Perth
Phillipa Lamont, MD & Mark Davis, PhD, FFSc, RCPA
Email: Phillipa- phillipa.lamont@health.wa.gov.au
Royal Perth Hospital, Dept of Neurology
Mark Davis
Telephone: +61 8 6383 4219 (Mark)
Fax: +61 8 9346 4029 (Mark)
Email: Mark- mark.davis@health.wa.gov.au
Neurogenetics Unit
Department of Diagnostic Genomics
PathWest Laboratory Medicine WA
Level 2, PP Building
QEII Medical Centre
Hospital Avenue
Nedlands WA 6009
Queensland
Bradley Launkonis, MD
Telephone: 61-7-3365-4301
Email: b.launikonis@uq.edu.au
Website: https://www.uq.edu.au/sbms/staff/bradley-launikonis
School of Biomedical Sciences
The University of Queensland
BNE, QUEENSLAND 4072
Brazil:
São Paulo
Umbertina Conti Reed
Edmar Zanoteli (Clinic Coordinator)
Telephone: 11- 26617878
Hospital das Clínicas, Faculdade de Medicina da USP
Av. Dr. Enéas de Carvalho Aguiar, 255
05403-010 - São Paulo
Canada:
Toronto
James Dowling, MD, PhD & Kim Amburgey, MS, CGC
Telephone: (416) 813-7654 x 301707
Fax: (416) 813-6334
Email: James- james.dowling@sickkids.ca, Kim- kim.amburgey@sickkids.ca
Hospital for Sick Children
Division of Neurology
555 University Avenue
Toronto, ON M5G 1X8
France:
Grenoble
Isabelle Marty, PhD
Telephone: 33 (0)4 56 52 05 71
Fax: 33(0)4 56 52 05 72
Email: isabelle.marty@ujf-grenoble.fr
Grenoble Institut des Neurosciences
Inserm U836 – Eq. 4 Muscle et Pathologies
Bat. EJ Safra
Chemin Fortuné Ferrini
38700 La Tronche
Julien Fauré, PhD
Telephone: 04 76 76 55 73
Fax: 04 76 76 56 64
Email: jfaure1@chu-grenoble.fr
Laboratoire de Biochimie Génétique et Moléculaire
Institut de Biologie et Pathologie
CHU Grenoble
CS10217
38043 GRENOBLE Cedex 09
Eric Esteve, MD
Telephone: (+33) (0) 476 637 537
Fax: (+33) (0) 476 637 178
Email: eric.esteve@ujf-grenoble.fr
Website: http://hp2.ujf-grenoble.fr
Laboratoire HP2, INSERM U1042
Facultés de Médecine et de Pharmacie
Institut Jean Roget, BP170
38042 Grenoble Cedex
Montpellier
Alain Lacampagne, PhD
Telephone: + 33 467 415 228 / +33 622 273 657
Fax: +33 467 415 242
UMR CNRS 9214 – Inserm U1046
Physiologie et Médecine Expérimentale du Coeur et des Muscles
CHU Arnaud de Villeneuve
34295 Montpellier Cedex 05
Paris
Ana Ferreiro, MD, PhD
Telephone: + 33 1 57277959
Fax: + 33 1 57277953
Email: ana.b.ferreiro@gmail.com
Bâtiment Buffon
4 Rue Marie-Andrée Lagroua Weill-Hallé
75205 Paris cedex 13
Consultant Neurologist
Neuromuscular Disorders Reference Centre, Paris-Est
Institut of Myology
Pitié-Salpêtrière Hospital, Paris & INSERM Research Director
Co-director, "Pathophysiology of striated muscles" lab
Unité de Biologie Fonctionnelle et Adaptative (BFA),
UMR 8251 Université Paris Diderot-CNRS
Campus Paris-Rive Gauche
Netherlands:
Nijmegen
Nicol C. Voermans, MD, PhD
Telephone: 0031 24 3616600
Fax: 0031 24 3541122
Email: nicol.voermans@radboudumc.nl
Email Center: spierziekten.neuro@radboudumc.nl
Radboud university medical centre
P.O. Box 9101, 6500 HB Nijmegen (935)
The Netherlands
South Africa:
Cape Town
Jo Wilmshurst
Telephone: 021 658 5434
Fax: 021 689 1287
Email: jo.wilmshurst@uct.ac.za
Red Cross War Memorial Children’s Hospital
University of Cape Town
South Africa
Spain:
San Sabastian
Ainara Vallejo Illarramendi, PhD
Telephone: +34 943 006128
Email: ainara.vallejoillarramendi@osakidetza.net
Group of Neuromuscular Diseases
Neuroscience Area, Biodonostia Institute
Paseo Dr. Begiristain s/n
20014 San Sebastian, Spain
Switzerland:
Basel
Susan Treves, MD
Telephone: 0041612652373
Email: susan.treves@unibas.ch
Dept anesthesia and biomedicine
Basel university hospital
Basel, Switzerland
United Kingdom:
London
Heinz Jungbluth, MD, PhD, MRCP, MRCPCH
Telephone: 0044 20 71883998 (secretary - Wanda)
Telephone: 0044 20 71884005 (direct line)
Fax: 0044 20 71884629
On-Call Mobile: 0044 07500120135
Email: Heinz.Jungbluth@gstt.nhs.uk
Email: Heinz.1.Jungbluth@gkcl.ac.uk
Reader and Consultant in Paediatric Neurology
Children's Neuroscience Centre
Newcomen Centre at St Thomas'
F01 - Staircase D South Wing
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
Randall Division for Cell and Molecular Biophysics
Muscle Signalling Section
King's College London
Clinical Neuroscience Division, IoP,
King's College London
Professor Francesco Muntoni, FRCPCH, FMedSci
Telephone: 44207 905 2111
Fax: 44207 905 2832
Email: f.muntoni@ucl.ac.uk
Email Assistant: janet.nicholas@ucl.ac.uk
UCL Institute of Child Health & Great Ormond Street Hospital for Children (GOSH)
30 Guilford Street, London WC1N 1EH, UK
Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases
Head, Developmental Neuroscience Programme