Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]
, 2015 The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the +7 more
core +2 more sources
The SUV39 Family of H3K9 Methyltransferases in Skeletal Muscle Stem Cells
FASEB BioAdvances, Volume 7, Issue 6, June 2025.The SUV39 family members are well known for methylating the Lysine 9 of the histone H3 (H3K9) in order to compact the chromatin and contributing to gene repression. We describe their active role in proliferating and differentiating muscle stem cells, how they prevent from inflammation and fibrosis during muscle regeneration and the future avenues ...
Pauline Garcia +2 more
wiley +1 more source
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer [PDF]
, 2017 Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine.
Carta, Claudio +6 more
core +1 more source
From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis
Health Expectations, Volume 28, Issue 3, June 2025.ABSTRACT Introduction Limb‐girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inadequate symptom management.
Homira Osman +6 more
wiley +1 more source
The use of an online support group for neuromuscular disorders: a thematic analysis of message postings [PDF]
, 2017 Purpose: People affected by neuromuscular disorders can experience adverse psychosocial consequences and difficulties accessing information and support. Online support groups provide new opportunities for peer support.
Han HR +6 more
core +2 more sources
Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies
iScienceSummary: The routine need for myonuclear turnover in skeletal muscle, together with more sporadic demands for hypertrophy and repair, are performed by resident muscle stem cells called satellite cells.
Elise N. Engquist +5 more
doaj +1 more source
Cellular and animal models for facioscapulohumeral muscular dystrophy
Disease Models & Mechanisms, 2020 Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound
Alec M. DeSimone +3 more
doaj +1 more source
Alpha‐Synuclein as a Potential Biomarker for Inclusion Body Myositis in Blood and Muscle
Neuropathology and Applied Neurobiology, Volume 51, Issue 3, June 2025.We examined alpha‐synuclein in muscle and serum samples of patients with IBM and other neuromuscular disorders. With the use of immunohistochemistry, we identify alpha‐synuclein muscular reactivity as a complementary diagnostic marker. Serum alpha‐synuclein levels measured by ELISA were not generally altered in IBM but correlated with disease duration ...
Tobias Mayer +14 more
wiley +1 more source
Neurology International, 2019 The co-existence of facioscapulohumeral muscle dystrophy (FSHD) and myasthenia gravis (MG) is very rare and few cases have been described in the literature.
Feryal Nauman +2 more
doaj +1 more source
Clinical and Translational Medicine, Volume 15, Issue 8, August 2025.
Wenwen Liu +14 more
wiley +1 more source