Locate A Provider
If you are a healthcare provider with expertise and/or interest in RYR-1-related diseases register to be listed as a provider on our site by clicking below.
Provider Application
Perry Shieh, MD, PhD
Tel: 310-794-1195
Tel: 310-794-749
UCLA Medical Center
UCLA Neurological Services
300 UCLA Medical Plaza B-200
Los Angeles, CA 90095
Tahseen Mozaffar, MD, FAAN, FANA
Namita Goyal, MD
Tel: (650) 723-6469
Tel: (650) 723-0993
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
John W. Day, MD, PhD
Karolina Watson, Pediatric Nurse Practitioner
Tel: New Patients/Adults: (650) 723-6469
Tel: New Patients/Children: (650) 723-0993
Division of Neuromuscular Medicine
Stanford Neuroscience Health Center
213 Quarry Road
Mail Code 5979
Palo Alto, CA 94304
Tel: (650) 725-7341
Chamindra Konersman, MD
Tel: (New Patient Registration): 858-657-8540
Tel: (Existing Patients): 858-657-8540
UC San Diego Health
4510 Executive Drive
Suite 325
La Jolla, CA 92121
Julie A. Parsons, MD
Alison Ballard, PNP (Clinic Coordinator)
Tel: 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)
Children’s Hospital Colorado Neuromuscular Clinic
13123 E. 16th Ave, B-155
Aurora, CO 80045
Carla Zingariello, DO
Bayleigh Dowling (Clinic Coordinator)
University of Florida
Department of Pediatrics
Division of Neurology
PO Box 100296
Gainesville, FL 32610
Thomas O. Crawford, MD
Theresa Cox (Clinic Coordinator)
Tel: 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
Payam Mohassel, MD
Sharon Jackson (Sr. Medical Office Coordinator)
Tel: 410-614-4278
Fax: 410-955-1961
Email: showar15@jhmi.edu
Johns Hopkins Outpatient Center
601 N Caroline Street
Baltimore, MD 21287
Carsten G. Bönnemann, MD & Sandra Donkervoort, MS, CGC
National Institutes of Health
National Institute of Neurological Disorders and Stroke Neurogenetics Branch
Neuromuscular and Neurogenetic Disorders of Childhood Section
10 Center Drive Room 2B39, MSC 1477
Bethesda, MD 20892-1477
Alan Beggs, PhD (Research) & Casie Genetti, MS, CGC
Boston Children’s Hospital
3 Blackfan Circle
CLSB 15031
Boston, MA 02115
Basil Darras, MD
Caroline Jaeger (Clinic Coordinator)
Tel. for Dr. Basil Darras: 617-355-8235
Tel. for Caroline Jaeger: 617-355-8235
Boston Children’s Hospital
Department of Neurology
300 Longwood Avenue
Fegan, 11th Floor
Boston, Massachusetts 02115
Teerin Liewluck, MD
Tel: 507-284-2111
Mayo Clinic
200 First Street SW
Rochester, MN 55905
Margherita Milone, MD, PhD
Dale Schafer (Clinic Coordinator)
Mayo Clinic
200 First Street SW
Rochester, MN 55905
Raghav Govindarajan, MD
Tel: 573-882-3135
Department of Neurology
1020 Hitt Street DC 120.00
Columbia Missouri 65201
Jahannaz Dastgir, DO
Tel: 973-971-5700
Fax: 973-290-7417
Email: jahannaz.dastgir@atlantichealth.org
Goryeb Children’s Hospital
100 Madison Ave.
Morristown, NJ 07960
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 Street
Buffalo, NY 14203
Michio Hirano, MD
Kris Engelstad (Clinical Coordinator)
Tel: 212-406-6834
Email: ke4@columbia.edu
Columbia University Medical Center
630 West 168th Street
P & S 4-423
New York, NY 10032
Kevin Flanigan, MD
Tel: 614-722-2203
Fax: 614-355-5247
MDA and Neuromuscular Clinics (adult and pediatric patients) & Center for Gene Therapy
Nationwide Children’s Hospital
700 N. Children’s Drive
Columbus, Ohio 43205
Sabrina Yum, MD
Livija Medne, MS, CGC
John Brandsema, MD
Elizabeth Kichula, MD, PhD
Robyn Ruggia (Clinic Coordinator)
Children’s Hospital of Philadelphia
3401 Civic Center Blvd
Philadelphia, PA 19104
Paula Clemens, MD
Rebecca Molcza, CRNP (Adult patients only)
Tel: 412-692-4920
Fax: 412-647-8398
Kaufman Medical Building
3471 Fifth Avenue
Suite 810
Pittsburgh, PA 15213
Hoda Z. Abdel-Hamid, MD
Tel: 412-692-6106
Fax: 412-692-6787
Email: Hoda.Abdel-Hamid@chp.edu
UPMC Children’s Hospital of Pittsburgh
4401 Penn Avenue, FP 8106
Pittsburgh, PA 15224
Deanna Steele, LGC
Tel: 412-641-5063
Fax: 412-641-1032
Email: Deanna.steele@chp.edu
UPMC Magee-Womens Hospital
300 Halket Street, Suite 1651
Pittsburgh, PA 15213
Matthew P. Wicklund, MD, FAAN
Office Phone: 210-450-0504
Email: wicklund@uthscsa.edu
UT Health San Antonio
Joe R. and Theresa Lozano Long School of Medicine
7703 Floyd Curl Drive | Mail Code 7883
San Antonio, TX 78229
Kaitlin Batley, MD
Connie Choudhary, RN
UT Southwestern/Children’s Health
2350 N Stemmons Fwy
Dallas, TX 75218
Lydia Sharp, MD
Sara Donahoe (Coordinator)
Tel: 713-798-2273
Coordinator tel. (Sara Donahoe): 713-798-8230
Fax: 713-798-7709
Email: LydiaJane.Sharp@bcm.edu
Coordinator email (Sara Donahoe): Sara.wood@bcm.edu
Baylor College of Medicine
Department of Neurology
7200 Cambridge St. Suite 9A
Houston, Texas 77030
Phillipa Lamont, MD
Mark Davis, PhD, FFSc, RCPA
Email: phillipa.lamont@health.wa.gov.au
Tel: +61 8 6383 4219 (Mark)
Fax: +61 8 9346 4029 (Mark)
Email: mark.davis@health.wa.gov.au
Phillipa Lamont:
Royal Perth Hospital, Dept of Neurology
Mark Davis:
Neurogenetics Unit
Department of Diagnostic Genomics
PathWest Laboratory Medicine WA
Level 2, PP Building
Hospital Avenue
Nedlands WA 6009
QEII Medical Centre
Bradley Launikonis, PhD
Tel: 61-7-3365-4301
Email: b.launikonis@uq.edu.au
School of Biomedical Sciences
The University of Queensland
BNE, QUEENSLAND 4072
Umbertina Conti Reed
Edmar Zanoteli (Clinic Coordinator)
Tel: 11- 26617878
Email: zanoteli@terra.com.br
Hospital das Clínicas, Faculdade de Medicina da USP
Av. Dr. Enéas de Carvalho Aguiar, 255
05403-010 – São Paulo
James Dowling, MD, PhD
Kim Amburgey, MS, CGC
Tel: 416-813-7654 x 301707
Fax: 416-813-6334
Emails:
Dr. James Dowling – james.dowling@sickkids.ca
Kim Amburgey – kim.amburgey@sickkids.ca
Hospital for Sick Children
Division of Neurology
555 University Avenue
Toronto, ON M5G 1X8
Isabelle Marty, PhD
Grenoble Institut des Neurosciences
Inserm U1216 – Eq. 4 C-MyPath
Bat. EJ Safra
Chemin Fortuné Ferrini
38700 La Tronche
Julien Fauré, PhD
Tel: 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
Éric Estève, PhD
Tel: +33 (0)411-759-892
Email: eric.esteve@umontpellier.fr
PhyMedExp, INSERM U1046 – CNRS UMR 9214
Institut Universitaire de Recherche Clinique
641 av du Doyen G. Giraud
34093 Montpellier cedex 5
Alain Lacampagne, PhD
Tel: + 33 467 415 228 / +33 622 273 657
Fax: +33 467 415 242
Email: alain.lacampagne@inserm.fr
UMR CNRS 9214 – Inserm U1046
Physiologie et Médecine Expérimentale du Coeur et des Muscles
CHU Arnaud de Villeneuve
34295 Montpellier Cedex 05
Ana Ferreiro, MD, PhD
Tel: + 33 1 57277959
Fax: + 33 1 57277953
Email: ana.b.ferreiro@gmail.com
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
Bâtiment Buffon
4 Rue Marie-Andrée Lagroua Weill-Hallé
75205 Paris cedex 13
Ann Agnes Mathew, MBBS, MRCPCH, FRCPCH
Synapse Neuro Centre
Jayanagar, Bangalore
Ms. Deepika (Secretary)
Appointments can be made by calling Ms. Deepika: +91 99027 97944
Bangalore Baptist Hospital
Thursdays are neuromuscular OPD days there and appointments are through the national helpline of a patient support organization called- ORDI (Organisation for Rare Diseases India) helpline: +91 88925 55000
Dr. Mathew sees patients online once a week and her online appointments are organized by Ms. Padma who can be contacted at +91 81056 83335.
Shahar Shelly, MD, PhD
Ms. Dikla Amoyal (Clinic Coordinator)
Tel: +97247772830
Emails: s_shelly@rmc.health.gov.il and shaharshelly@gmail.com
Rambam Medical Center
HaAliya HaShniya St 8
Haifa, 3109601
Nicol C. Voermans, MD, PhD
Tel: 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 (910)
The Netherlands
Prof. Jo Wilmshurst
Tel: 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
Ainara Vallejo Illarramendi, PhD
Telephone: +34 943 006128
Group of Neuromuscular Diseases
Neuroscience Area, Biodonostia Institute
Paseo Dr. Begiristain s/n
20014 San Sebastian, Spain
Susan Treves, PhD
Tel: +41612652373
Email: susan.treves@unibas.ch
Neuromuscular Research group
Department of Biomedicine
University Hospital Basel, Basel University
Basel, Switzerland
Heinz Jungbluth, MD, PhD, MRCP, MRCPCH
Tel: 0044 20 71883998 (secretary – Wanda)
Tel: 0044 20 71884005 (direct line)
Fax: 0044 20 71884629
On-Call Mobile: 0044 07500120135
Email: Heinz.Jungbluth@gstt.nhs.uk
Reader and Consultant in Paediatric Neurology
Children’s Neuroscience Centre
Newcomen Centre at St Thomas’
F01 – Staircase D South Wing
St Thomas’ Hospital
Randall Division for Cell and Molecular Biophysics
Muscle Signalling Section
King’s College London
Clinical Neuroscience Division, IoP,
King’s College London
Westminster Bridge Road
London SE1 7EH
Professor Francesco Muntoni, FRCPCH, FMedSci
Tel: 44207 905 2111
Fax: 44207 905 2832
Email: f.muntoni@ucl.ac.uk
Email Assistant: janet.nicholas@ucl.ac.uk
Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases
Head, Developmental Neuroscience Programme
UCL Institute of Child Health & Great Ormond Street Hospital for Children (GOSH)
30 Guilford Street, London WC1N 1EH, UK
