Publication Highlights

The Publication Highlights Committee will present an interesting research article from the field of neuromuscular diseases each month. In this section, research data is presented on the WMS website to make it more accessible to the WMS community. The aim is to improve networking among the members of the WMS and to give a face to the researchers in the field. Current published articles can be suggested for publication highlight by the authors themselves or others via In addition, there is the possibility to present oneself and one's research work in a short video. There are no limits to your creativity!

Photo of Anne Schänzer

Anne Schänzer
Institute of Neuropathology, Giessen, Germany

Anne Schänzer is head of the diagnostic and research neuromuscular lab. She is specializing on morphology of skeletal and cardiac muscle including electron microscopy and her research focus are genetic and acquired neuromuscular disorders in children and adults.

Photo of Lindsay Alfano

Lindsay Alfano
The Abigail Wexner Research Institute at Nationwide Children, Dublin, United States

Lindsay Alfano is an assistant professor in The Abigail Wexner Research Institute at Nationwide Children’s Hospital. She is a physical therapist specializing in outcome measure administration, selection, and development for patients with neuromuscular diseases.

Photo of Helge Amthor

Helge Amthor
Université de Versailles, Montigny-le-Bretonneux, France

Helge Amthor is Professor of Pediatric Neurology at the Paris-Saclay University. His research focuses on pathophysiological questions of Duchenne muscular dystrophy.

Photo of Enrico Bugiardini

Enrico Bugiardini
Institute of Neurology, London, United Kingdom

Enrico Bugiardini main research interests are genetic investigations in neuromuscular diseases and clinical studies in Facioscapulohumeral muscular dystrophy (FSHD). He carries out clinical activity for Muscle Diseases and Mitochondrial Disorders at Queen Square, London for Neuromuscular Diseases.

Photo of Jim Dowling

Jim Dowling
Hospital for Sick Children, Toronto, Canada

Jim Dowling is a pediatric neurologist and senior scientist at the Hospital for Sick Children in Toronto, Canada. His research is focused on gene discovery and therapy development for congenital myopathies.

Photo of Meagan McGrath

Meagan McGrath
Monash University, Clayton, Australia

Meagan McGrath research interests focuses on autophagic pathways in skeletal muscle homeostasis, disease and exercise capacity. She is also interested in understanding the pathomechanism(s) and devising treatments for disorders linked to mutations in the FHL1 gene (termed “FHL1 myopathies”).

Photo of Federica Montagnese

Federica Montagnese
Friedrich Baur Institut - Ludwig-Maximilians University , München, Germany

Federica Montagnese's research focus is on the clinical and myopathological aspects of metabolic myopathies, myotonic syndromes and muscular dystrophies. She is responsible for the maintenance of the National Registries for myotonic dystrophies and FSHD. She is member of the EAN Subspecialty Panels of “Neurogenetics” and “Muscle disorders”.

Photo of Jantima Tanboon

Jantima Tanboon
Siriraj Hospital, Mahidol University, Bangkok Noi -Bangkok , Thailand

Dr. Jantima Tanboon is an assistant professor of anatomical pathology at Siriraj Hospital, Mahidol University, Thailand. Dr.Tanboon was a research student and a postdoctoral research fellow at the Department of Neuromuscular Research at the National Center of Neurology and Psychiatry (NCNP), Japan under the supervision of Dr.Satoru Noguchi and Dr.Ichizo Nishino where she grew in depth passion in neuromuscular research. Dr.Tanboon is one of a few specialists in her country responsible for muscle biopsy diagnosis.

Photo of Nicolas Wein

Nicolas Wein
Nationwide Childrens Hospital, COLUMBUS OHIO, United States

Nicolas Wein worked as a postdoc in the team of Pr. Kevin Flanigan in The Center for Gene Therapy in USA. He started his own group 2016 and works on neuromuscular disorders such as DMD and myotonic dystrophy type 1 and is interested in adeno associated viral treatments.

Photo of Michaela Yuen

Michaela Yuen
University of Sydney, Westmead, Australia

Michaela Yuen is a biomedical scientist and muscle physiologist seeking an in-depth understanding of congenital myopathies and other inherited muscle diseases. Her work involves disease gene discovery (particularly genetic variants affecting pre-mRNA splicing) and disease pathogenicity studies focusing on the contractile apparatus of skeletal muscle.

 If you have a query or some potential content please feel free to contact them to discuss further. For general queries please contact Clare Beach, WMS Secretariat on

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Latest publications

25 Nov 2022 Depletion of skeletal muscle satellite cells attenuates pathology in muscular dystroph

22 Sep 2022 A novel strategy for the identification of pathogenic intronic/complex genomic variants

25 Aug 2022 Identification of Caveolae-Associated Protein 4 Autoantibodies as a Biomarker of Immune-Mediated Rippling Muscle Disease in Adults

31 Jul 2022 Dystrophin expression comparison in CXMD dog model

21 Jun 2022 Type I interferon in dermatomyositis: Impact on myogenesis and possible autocrine/paracrine effect

19 May 2022 Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy

21 Apr 2022 Low immunogenicity of LNP allows repeated administrations of CRISPR-Cas9 mRNA into skeletal muscle in mice

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