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.


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.


Provider Application

Los Angeles, CA

Perry Shieh, MD, PhD

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

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, 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

San Diego, CA

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

Aurora, CO

Julie A. Parsons, MD

Alison Ballard, PNP (Clinic Coordinator)

Children’s Hospital Colorado Neuromuscular Clinic

13123 E. 16th Ave, B-155
Aurora, CO 80045

Aurora, CO

Melissa Wright, MD, PhD

Alison Ballard, PNP (Clinic Coordinator)

Children’s Hospital Colorado Neuromuscular Clinic

13123 E. 16th Ave, B-155
Aurora, CO 80045

Aurora, CO

Michele Yang, MD

Hattie Foster, BSN, RN, CPN

Telephone: 720-777-2806

Fax: 720-777-7220


Children’s Hospital Colorado

13123 E. 16th Ave
Aurora, CO 80045

Washington, D.C.

Diana Bharucha-Goebel, MD

Kathleen Smart

Tel: 202-476-6193
Fax: 202-476-7158
Email: NeuromuscularCoordinators@childrensnational.org

Children’s National Hospital

111 Michigan Ave NW
Washington, D.C. 20010

Washington, D.C.

Sarah Wright, DO

Kathleen Smart

Tel: 202-476-6193
Fax: 202-476-7158
Email: NeuromuscularCoordinators@childrensnational.org

Children’s National Hospital

111 Michigan Ave NW
Washington, D.C. 20010

Gainesville, FL

Carla Zingariello, DO

Bayleigh Dowling (Clinic Coordinator)

University of Florida
Department of Pediatrics
Division of Neurology

PO Box 100296
Gainesville, FL 32610

Baltimore, MD

Thomas O. Crawford, MD

Theresa Cox (Clinic Coordinator)

The Johns Hopkins Center for Inherited Neuromuscular Disease

600 N. Wolfe St.
Meyer 5-119
Baltimore, MD 21287

Baltimore, MD

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

Bethesda, MD

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

Boston, MA

Alan Beggs, PhD (Research) & Casie Genetti, MS, CGC

Boston Children’s Hospital

3 Blackfan Circle

CLSB 15031

Boston, MA 02115

Boston, MA

Basil Darras, MD

Caroline Jaeger (Clinic Coordinator)

Tel. for Dr. Basil Darras: 617-355-8235

Tel. for Caroline Jaeger: 617-355-8235

Email: Caroline.Jaeger@childrens.harvard.edu

Boston Children’s Hospital
Department of Neurology

300 Longwood Avenue

Fegan, 11th Floor

Boston, Massachusetts 02115

Rochester, MN

Teerin Liewluck, MD

Mayo Clinic

200 First Street SW

Rochester, MN 55905

Rochester, MN

Margherita Milone, MD, PhD

Dale Schafer (Clinic Coordinator)

Mayo Clinic

200 First Street SW

Rochester, MN 55905

Columbia, MO

Raghav Govindarajan, MD

Department of Neurology

1020 Hitt Street DC 120.00

Columbia Missouri 65201

New Jersey
Morristown, NJ

Jahannaz Dastgir, DO

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 Street

Buffalo, NY 14203

New York, NY

Michio Hirano, MD

Kris Engelstad (Clinical Coordinator)

Columbia University Medical Center

630 West 168th Street
P & S 4-423
New York, NY 10032

Columbus, OH

Kevin Flanigan, MD

MDA and Neuromuscular Clinics (adult and pediatric patients) & Center for Gene Therapy

Nationwide Children’s Hospital

700 N. Children’s Drive
Columbus, Ohio 43205

Philadelphia, PA

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

Pittsburgh, PA

Paula Clemens, MD

Rebecca Molcza, CRNP (Adult patients only)

Kaufman Medical Building

3471 Fifth Avenue
Suite 810
Pittsburgh, PA 15213

Pittsburgh, PA

Hoda Z. Abdel-Hamid, MD

UPMC Children’s Hospital of Pittsburgh

4401 Penn Avenue, FP 8106
Pittsburgh, PA 15224

Pittsburgh, PA

Deanna Steele, LGC

UPMC Magee-Womens Hospital

300 Halket Street, Suite 1651
Pittsburgh, PA 15213

San Antonio, TX

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

Dallas, TX

Kaitlin Batley, MD

Connie Choudhary, RN

UT Southwestern/Children’s Health

2350 N Stemmons Fwy
Dallas, TX 75218

Houston, TX

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

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

School of Biomedical Sciences

The University of Queensland


São Paulo

Umbertina Conti Reed

Edmar Zanoteli (Clinic Coordinator)

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

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

Laboratoire de Biochimie Génétique et Moléculaire
Institut de Biologie et Pathologie

CHU Grenoble
38043 GRENOBLE Cedex 09


Éric Estève, PhD

PhyMedExp, INSERM U1046 – CNRS UMR 9214
Institut Universitaire de Recherche Clinique

641 av du Doyen G. Giraud
34093 Montpellier cedex 5


Alain Lacampagne, PhD

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

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)

Rambam Medical Center

HaAliya HaShniya St 8
Haifa, 3109601


Nicol C. Voermans, MD, PhD

Radboud University Medical Centre

P.O. Box 9101, 6500 HB Nijmegen (910)
The Netherlands

Saudi Arabia

Momen Almomen, MD, FRCPC

Pediatric Neurology

King Fahd Specialist Hospital

Damman, Saudi Arabia

South Africa
Cape Town

Prof. Jo Wilmshurst

Red Cross War Memorial Children’s Hospital
University of Cape Town

South Africa

San Sebastián

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

Neuromuscular Research group
Department of Biomedicine
University Hospital Basel, Basel University

Basel, Switzerland

United Kingdom

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

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

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