Meet our distinguished team

BJARNE UDD

Prof., MD, PhD
Neuromuscular Research Center, University of Tampere
Folkhälsan Institute of Genetics, Biomedicum, University of Helsinki

Dr. Bjarne Udd was born in Finland and received his MD from the University of Berne, Switzerland, in 1975. He completed his residency in Neurology at the University Hospital in Umeå, Sweden, and the University Hospital in Helsinki, Finland.

In 1992, he earned his PhD from Helsinki University with a thesis on a newly identified type of muscular dystrophy, which leads to distal Tibial muscular dystrophy (TMD) in heterozygotes and severe LGMD2J in homozygous patients.

Dr. Udd has held an academic appointment (Docent) at Tampere University since 1997. In 2004, he became the Head of the Advanced Neuromuscular Diagnostics Program at Tampere University Hospital, a nationwide and international quaternary referral center for neuromuscular disease patients with undetermined diagnoses. In 2008, he was appointed Professor of Neurology in Neuromuscular Disorders, and in 2013, the clinical service was expanded into the Neuromuscular Research Center at Tampere University Hospital.

Currently, Dr. Udd leads two research groups:

• One at the Folkhälsan Research Center in Helsinki

• One at Tampere University Hospital

He is an active member of several international research boards in neuromuscular diseases. His research primarily focuses on very rare neuromuscular diseases, including:

• Muscular dystrophies

• Distal myopathies

• Rimmed vacuolar myopathies

• Limb-girdle dystrophies

• Myotonic dystrophy type 2

Dr. Udd was the first to describe a human muscle disease caused by titin mutations, including TMD (Udd myopathy) and LGMD2J. His research has contributed to the identification of over 20 new muscle diseases, many involving previously unknown myopathy genes.

 AMIR DORI

Senior Clinical Lecturer of Neurology, Tel-Aviv University
Director, Neuromuscular Clinic & Neuromuscular Pathology and Research Lab, Sheba Medical Center, Israel

Dr. Amir Dori earned his MD and PhD from Ben-Gurion University Medical School in Israel and is board-certified in neurology. Following a three-year neuromuscular clinical fellowship at Washington University in St. Louis, he returned to Israel in 2014 and established the Sheba Neuromuscular Clinic and Neuromuscular Pathology and Research Lab.

Dr. Dori’s research focuses on neuromuscular disorders, including:

• ALS (Amyotrophic Lateral Sclerosis)

• Hereditary amyloidosis

• Immune-mediated polyneuropathy

• Ultrasound imaging of neuromuscular disorders

He integrates human tissue biopsy samples into basic science research, contributing to advancements in the field. He has published over 50 peer-reviewed papers and has received multiple awards for excellence.

Currently, Dr. Dori serves as a senior clinical lecturer of neurology at Tel-Aviv University and is the director of the Neuromuscular Clinic, Neuromuscular Pathology, and Research Lab at Sheba Medical Center.

JON ANDONI URTIZBEREA

MD, MSc

Dr. J. Andoni Urtizberea, aged 66, is a French physician trained at Paris University, France (1983-1987) and certified in both pediatrics and PMR (physical medicine and rehabilitation). After graduating in parallel from the Institut d’Etudes Politiques de Paris in 1987, he served for many years as Medical Director for the AFM-Telethon and as General Delegate of the Institut de Myologie of Paris between 1993 and 2000. As Scientific Director of the European Neuromuscular Center (1999-2005), he contributed to the inception of many global networks in myology.

Until December 2019, he worked as a part-time clinical myologist at Hendaye Hospital, France (APHP trust) and served as deputy coordinator of the French Neuromuscular Network (FILNEMUS). Over the past thirty years, he has led various worldwide educational events dedicated to myology in Europe, Russia, Latin America, and the Middle East.

He is currently a faculty member at the Institut de Myologie of Paris, France, overseeing the various versions of AcadeMYO. He is a regular visiting professor in multiple foreign countries and a self-employed consultant for several pharmaceutical companies. Positioned at the intersection of academia, patient advocacy groups, and industry, his main objective is to raise awareness about rare neuromuscular conditions, particularly in emerging countries.

To that end, he co-founded and chairs “Myologie Sans Frontières,” a humanitarian NGO dedicated to the promotion of myology, mainly in Low and Middle-Income Countries.

ANNA ROSTEDT PUNGA

MD, PhD
Professor and Consultant Physician of Clinical Neurophysiology
Uppsala University and Uppsala University Hospital

Anna Rostedt Punga, MD, PhD, is a Professor of Clinical Neurophysiology at Uppsala University, Sweden. She also works as a consultant physician with strong expertise in neuromuscular disorders at Uppsala University Hospital.

Professor Punga received her MD degree from Uppsala University in 2003. She completed her clinical training as a resident and fellow at Uppsala University Hospital under the mentorship of Professor Erik Stålberg, becoming one of the leading experts in single-fiber EMG (SFEMG) and neuromuscular transmission disorders. For many years, she has led the international course on EMG, nerve conduction studies, and neuromuscular ultrasound at Uppsala University Hospital.

Academically, Professor Punga earned her PhD in 2007 at Uppsala University with a focus on Myasthenia Gravis (MG), and she has since built a strong international profile in translational MG research. As a postdoctoral fellow in 2009 at the University of Basel, Switzerland, she joined the European “Fight-MG” consortium, a multi-country initiative to advance the understanding of MG epidemiology and pathophysiology.

Since then, she has led a successful translational research group at Uppsala University, with ongoing international collaborations and basic and clinical science projects. Her team has pioneered the discovery of circulating biomarkers in MG and conducted national studies on MG epidemiology, pregnancy, and the benefits of physical exercise—being among the first to highlight the positive effects of physical activity in MG.

As principal investigator, Professor Punga has secured major grants from the Swedish Research Council, the Erling Persson Foundation, and the Myasthenia Gravis

 Foundation of America. Her work was recognized with the prestigious Göran Gustafsson Prize in Medicine for her research in MG.

She has publishe

d 66 peer-revie

wed original articles, primarily on MG and neuromuscular transmission disorders, 12 review articles, and three book chapters. In 2024, she was invited as a plenary speaker on MG biomarkers at the International Congress on Neuromuscular Disorders (ICNMD) in Perth. Professor Punga is a member of several international MG expert groups and serves on the Medical and Scientific Advisory Board for the Myasthenia Gravis Foundation of America (MGFA).

EDITA JAZEPČIKIENĖ

PhD, MSc
Physiotherapist, Department of Rehabilitation
Hospital of Lithuanian University of Health Sciences Kauno klinikos
Lecturer, Department of Rehabilitation
Lithuanian University of Health Sciences

Edita Jazepčikienė, PhD, MSc, is a physiotherapist at the Department of Rehabilitation, Hospital of Lithuanian University of Health Sciences Kauno klinikos. She also serves as a lecturer at the Department of Rehabilitation, Lithuanian University of Health Sciences.

Since 2018, she has focused her clinical and academic work on neuromuscular diseases in children. At the Centre for Neuromuscular Diseases, she collaborates within a multidisciplinary team to supervise and assess the functional status of both children and adults living with rare neuromuscular disorders.

Dr. Jazepčikienė has actively participated in numerous trainings, seminars, and conferences on rare neuromuscular diseases across Europe, including in the Netherlands, France, Czech Republic, Romania, Latvia, and Lithuania.

LIIS VÄLI

PhD, MD
Neurologist and Neurophysiologist
Tartu University Hospital, Estonia

Liis Väli, PhD, MD, is a neurologist and neurophysiologist at Tartu University Hospital, Estonia. She has been practicing as a neurologist since 2014.

Dr. Väli earned her Degree of Medicine (MD) in 2009 and completed her residency at the University of Tartu. In 2013, she defended her PhD thesis, which focused on the epidemiology of traumatic spinal cord injuries in Estonia.

From 2016 to 2018, she pursued postdoctoral studies at Uppsala University in Sweden, working in the Department of Clinical Neurophysiology with a research focus on myasthenia gravis.

Currently, Dr. Väli specializes in rare neuromuscular disorders in her clinical work and continues to be actively involved in scientific research. Her academic interests primarily center around neuromuscular diseases, particularly myasthenia gravis.