Results 11 to 20 of about 55,263 (257)

Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature. [PDF]

Eur J Neurol
ABSTRACT Background Facioscapulohumeral dystrophy (FSHD) and Myasthenia Gravis (MG) are well‐known rare neuromuscular diseases of respectively genetic and acquired origin. Among muscular dystrophies, the co‐occurrence of MG with FSHD is the most common, representing a non‐negligible “double trouble”.
Tammam G, Villa L, Lemmers RJLF, Pini J, Slioui A, Bouchareychas L, David Y, Ioncea MB, Salviati L, Cavalli M, Ezaru A, Puma A, Verschuuren JJ, van der Maarel SM, Sacconi S.   +14 more
europepmc   +2 more sources

Response to: Disentangling Facioscapulohumeral Muscular Dystrophy Disability From Age and Comorbidities: A Call for Refined Stratification. [PDF]

Eur J Neurol
European Journal of Neurology, Volume 32, Issue 11, November 2025.
Teeselink S, Mul K.
europepmc   +2 more sources

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. [PDF]

Eur J Neurol
Muscle biopsies from patients across eight neuromuscular disorders and healthy controls were analyzed using immunofluorescence (IF) and immunoblot (WB) to evaluate the expression and localization of seven annexin proteins (A1, A2, A4, A5, A6, A7, A11).
He QF, Lin YH, Zheng ZL, Zeng MH, Lin X, Liu XY, Kang-Yang, Zhang QI, Lin MT, Wang N, Wang ZQ, Lin F.   +11 more
europepmc   +2 more sources

Dynamic MR of Muscle Contraction During Electrical Muscle Stimulation: Potential Application to the Evaluation of Neuromuscular Diseases. [PDF]

NMR Biomed
This exploratory study investigated dynamic MRI during neuromuscular electrical stimulation (NMES) as a biomarker for muscular diseases. Fourteen healthy controls and ten patients with metabolic and myotonic myopathies underwent 3T MRI scanning. Results showed reduced strain and strain buildup rates in patients' soleus muscles compared to controls ...
Santini F, Croce MG, Deligianni X, Maggioni MB, Paoletti M, Barzaghi L, Bergsland N, Faggioli A, Manco G, Bonizzoni C, Jin N, Ravaglia S, Pichiecchio A.   +12 more
europepmc   +2 more sources

Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient

SAGE Open Medical Case Reports, 2022
Facioscapulohumeral muscular dystrophy is a muscular dystrophy affecting all ages, primarily people in the second decade. The disease is initially presented with face, shoulder girdle, and upper arm involvement, followed by lower extremity muscle ...
Olga Triantafyllidou, Konstantinos Stavridis, Stavroula Lila Kastora, Nikolaos Vlahos   +3 more
doaj   +1 more source

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data [PDF]

, 2017
Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing.
Brouwer, Oebele F., Dorobek, Malgorzata, Erasmus, Corrie E., Goselink, Rianne J. M., Mah, Jean K., Nikolic, Ana, Okkersen, Kees, Padberg, George W., Schreuder, Tim H. A., Tupler, Rossella, Van Engelen, Baziel G. M., Voermans, Nicol C.   +11 more
core   +16 more sources

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj   +1 more source

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

Indian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath   +2 more
doaj   +1 more source

Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome

Journal of Cachexia, Sarcopenia and Muscle, 2023
It is unclear how changes in quantitative muscle magnetic resonance imaging (MRI) relate to changes in clinical outcome in facioscapulohumeral muscular dystrophy (FSHD), although this information is crucial for optimal use of MRI as imaging biomarker in ...
S. Vincenten, K. Mul, Daniël van As, Julia J. Jansen, L. Heskamp, A. Heerschap, B. V. van Engelen, N. Voermans   +7 more
semanticscholar   +1 more source

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

RNA Biology, 2022
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some ...
Andrea C. Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, Eleni Zamba Papanicolaou, Grainne Gorman, Hanns Lochmüller, George M. Spyrou, Leonidas A. Phylactou   +17 more
doaj   +1 more source