Locate A Provider
Healthcare providers with expertise or interest in RYR-1-related diseases are invited to apply and be listed on our site by clicking the application button below.
The information on this website is provided for general informational purposes only and is not intended to be medical advice or an official endorsement. The physicians listed on this website are independent practitioners and are not employees or agents of the organization, and the organization receives no compensation or other consideration from them in exchange for listing them. The organization does not endorse, recommend, or guarantee the quality, competence, or suitability of any physician or the services they provide, and is not responsible for any inaccurate information physicians provide in their listings. You are solely responsible for selecting and verifying the credentials of any physician you contact through this website.
Perry Shieh, MD, PhD
Telephone: (310) 794-1195
Telephone: (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
Telephone: (714) 456-2332
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
Telephone: New Patients/Adults: (650) 723-6469
Telephone: New Patients/Children: (650) 723-0993
Division of Neuromuscular Medicine
Stanford Neuroscience Health Center
213 Quarry Road
Mail Code 5979
Palo Alto, CA 94304
Chamindra Laverty, MD
Telephone: (New Patient Registration): (858) 657-8540
Telephone: (Existing Patients): (858) 657-8540
UC San Diego Health
4510 Executive Drive
Suite 325
La Jolla, CA 92121
Melissa Wright, MD, PhD
Telephone: (720) 777-8723
Fax: (720) 777-7285
Email: melissa.wright@childrenscolorado.org
Michele Yang, MD
Hattie Foster, BSN, RN, CPN (Clinic Coordinator)
Telephone: (720) 777-2806
Fax: (720) 777-7220
Children’s Hospital Colorado Neuromuscular Clinic
13123 E. 16th Ave, B-155
Aurora, CO 80045
Diana Bharucha-Goebel, MD
Sarah Wright, DO
Kathleen Smart (Clinic Coordinator)
Telephone: (202) 476-6193
Fax: (202) 476-7158
Email: NeuromuscularCoordinators@childrensnational.org
Children’s National Hospital
111 Michigan Ave NW
Washington, D.C. 20010
Carla Zingariello, DO
Bayleigh Dowling (Clinic Coordinator)
University of Florida
Department of Pediatrics
Division of Neurology
PO Box 100296
Gainesville, FL 32610
Omer Abdul Hamid, MD
Rulla Starr (Clinic Coordinator)
Telephone: (407) 650-7715
Nemours MDA clinic
6535 Nemours Parkway
Orlando Florida 32827
Meredith Greer, MD
Telephone: (404) 712-7533
The Emory Sleep Center in The Emory Brain Health Center
12 Executive Park Drive NE
Atlanta, GA 30329
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
Payam Mohassel, MD
Sharon Jackson (Sr. Medical Office Coordinator)
Telephone: (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)
Telephone for Dr. Basil Darras: (617) 355-8235
Coordinator Telephone: (617) 355-8235
Boston Children’s Hospital
Department of Neurology
300 Longwood Avenue
Fegan, 11th Floor
Boston, Massachusetts 02115
Margherita Milone, MD, PhD
Emily Akkerman (Administrative Assistant)
Mayo Clinic
200 First Street SW
Rochester, MN 55905
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
Michio Hirano, MD
Telephone: (212) 305-1319
Columbia University Medical Center
630 West 168th Street
P & S 4-423
New York, NY 10032
Natalie Katz, MD, PhD
Trish Sexton (Nurse Coordinator)
Duke Children’s Neuromuscular Clinic
Duke University Hospital
3000 Erwin Road
Durham, NC 27705
New York, NY 10032
Kevin Flanigan, MD
Telephone: (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
Ashutosh Kumar, MBBS, FAAP
Paula Cameron (Clinic Coordinator)
Penn State Health Milton S. Hershey Medical Center,
500 University Drive
Hershey, PA 17033
Andrew McCarty, MS, CGC, Genetic Counselor
Telephone: (412) 440-8645
Fax: (412) 465-6050
Email: info@clovergenetics.com
Clover Genetics
5827 Steubenville Pike
McKees Rock, PA 15136
Via telehealth: Alaska, Arizona, Colorado, Florida, Georgia, Hawaii, Kansas, Kentucky, Maine, Missouri, Montana, Nevada, New Jersey, New York, North Carolina, Ohio, South Carolina, Texas, Tennessee, Vermont, Virginia, Washington, West Virginia, Wisconsin
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
Joshua A. Smith, DO (Adult patients only)
Rebecca Molczan, CRNP (Adult patients only)
University of Pittsburgh Medical
Center – Kaufman Medical Building
3471 Fifth Avenue
Suite 810
Pittsburgh, PA 15213
Hoda Z. Abdel-Hamid, MD
Telephone: (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
Telephone: (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
Telephone: (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 (Clinic Coordinator)
UT Southwestern/Children’s Health
2350 N Stemmons Fwy
Dallas, TX 75218
Lydia Sharp, MD
Sara Donahoe (Clinic Coordinator)
Telephone: (713) 798-2273
Coordinator Telephone: (713) 798-8230
Fax: (713) 798-7709
Email: LydiaJane.Sharp@bcm.edu
Baylor College of Medicine
Department of Neurology
7200 Cambridge St. Suite 9A
Houston, Texas 77030
Mark Davis, PhD, FFSc, RCPA
Neurogenetics Unit
Department of Diagnostic Genomics
PathWest Laboratory Medicine WA
Level 2, PP Building
Phillipa Lamont, MD
Royal Perth Hospital, Department of Neurology
Hospital Avenue
BoxX2213 GPO Perth 6847
Bradley Launikonis, PhD
Telephone: +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)
Telephone: +11 266-17878
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
Telephone: (416) 813-7654 x 301707
Fax: (416) 813-6334
Email: james.dowling@sickkids.ca
Kim Amburgey Email: kim.amburgey@sickkids.ca
Hospital for Sick Children
Division of Neurology
555 University Avenue
Toronto, ON M5G 1X8
Sheila Riazi, MSc, MD, FRCPC
Telephone: (416) 340-3128
Malignant Hyperthermia Investigation Unit
University Health Network- Toronto General Hospital
323-200 Elizabeth Street
Toronto, ON, M5G 2C4 Canada
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
Telephone: +33 04 76 76 55 73
Fax: +33 04 76 76 56 64
Email: jfaure1@chu-grenoble.fr
UM Génétique Moléculaire : Maladies Héréditaires et Oncologie
Service de Biochimie, Biologie Moléculaire et Toxicologie Environnementale
Institut de Biologie et Pathologie
CHU Grenoble
CS10217
38043 GRENOBLE Cedex 09
Éric Estève, PhD
Telephone: +33 04 11 75 98 92
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
Telephone: +33 46 74 15 228 / +33 62 22 73 657
Fax: +33 46 7415 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
Telephone: +33 142163773
Email: ana.b.ferreiro@gmail.com
Neurologist
Neuromuscular Disorders Reference Centre
Institute of Myology
Neuromyology Department
Pitié-Salpêtrière University Hospital, Paris
& INSERM Research Director
Myology Research Center
UMR 974 Sorbonne University/Inserm
Bâtiment Babinksi
47-83 Boulevard de l’Hôpital
75013 Paris
Ann Agnes Mathew, MBBS, MRCPCH, FRCPCH
Ms. Deepika (Secretary)
Telephone: +91 99027 97944
Synapse Neuro Centre
Jayanagar, Bangalore
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)
Telephone: +91 88925 55000
Dr. Mathew sees patients online once a week and her online appointments are organized by Ms. Padma.
Telephone: +91 81056 83335
Shahar Shelly, MD, PhD
Ms. Dikla Amoyal (Clinic Coordinator)
Telephone: +972 4-777-2830
Rambam Medical Center
HaAliya HaShniya St 8
Haifa, 3109601
Prof Nicol C. Voermans, MD, PhD
Telephone: +0031 24 361 6600
Email: nicol.voermans@radboudumc.nl
Email Center: spierziekten.neuro@radboudumc.nl
Radboud University Medical Centre
Momen Almomen, MD, FRCPC
Telephone: +966 013 8043333
Email: momen.almomen@yahoo.com
King Fahad Specialist Hospital
Pediatric Neurology
Dammam, Saudi Arabia
Prof. Jo Wilmshurst
Telephone: +02 16 585 434
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: +34 943 006 128
Email: ainara.vallejo@ehu.eus
Group of Neuromuscular Diseases
Neuroscience Area, Biogipuzkoa Institute
Paseo Dr. Begiristain s/n
20014 San Sebastian, Spain
Susan Treves, PhD
Telephone: ++41 61 328 6372
Email: susan.treves@unibas.ch
Neuromuscular Research Group
Department of Biomedicine
University Hospital Basel, Basel University
Basel, Switzerland
Heinz Jungbluth, MD, PhD, MRCP, MRCPCH
Children’s Neuroscience Centre
Evelina London Children’s Hospital
Guy’s & St Thomas’ NHS Foundation Trust
Floor 02 – Becket House
Lambeth Palace Road
Phone: +0044 20 71883998 (secretary – Wanda)
Email: Heinz.Jungbluth@gstt.nhs.uk
Randall Centre for Cell and Molecular Biophysics
Muscle Signalling Section
Faculty of Life Sciences and Medicine (FoLSM)
King’s College London
Email: Heinz.Jungbluth@kcl.ac.uk
Professor Francesco Muntoni, FRCPCH, FMedSci
Telephone: +44 20 7905 2111
Email: f.muntoni@ucl.ac.uk
Email Assistant: ich.dn.admin@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
