Results 131 to 140 of about 55,263 (257)
Physiology of respiratory disturbances in muscular dystrophies [PDF]
, 2016 Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea +1 more
core +2 more sources
Social cognition in myotonic dystrophy type 1: Specific or secondary impairment? [PDF]
, 2018 Aims The cognitive profile of Myotonic Dystrophy type 1 (DM1) has been described in recent decades. Moreover, DM1 patients show lowered social engagement and difficulties in social-cognitive functions.
Aliri Lazcano, Jone +5 more
core +2 more sources
Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson +2 more
wiley +1 more source
Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy
Case Reports in Neurological Medicine, 2012 A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of ...
Dominic B. Fee
doaj +1 more source
Reachable Workspace and Proximal Function Measures for Quantifying Upper Limb Motion. [PDF]
, 2020 There are a lack of quantitative measures for clinically assessing upper limb function. Conventional biomechanical performance measures are restricted to specialist labs due to hardware cost and complexity, while the resulting measurements require ...
Bajcsy, Ruzena +6 more
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Muscular Dystrophy- Facioscapulohumeral Dystrophy - A Rare Autosomal Dominant Disorder
Journal of Evolution of Medical and Dental Sciences, 2020 P. Baghel +2 more
semanticscholar +1 more source
Molecular Therapy: Methods & Clinical DevelopmentFacioscapulohumeral muscular dystrophy (FSHD) is the third most diagnosed muscular dystrophy. The disease is caused by genetic and epigenetic disruptions that result in misexpression of the germline transcription factor DUX4 in skeletal muscle, leading ...
Katelyn Daman +8 more
doaj +1 more source
Advances in imaging of brain abnormalities in neuromuscular disease
Therapeutic Advances in Neurological Disorders, 2019 Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj +1 more source
Revista Pesquisa em Fisioterapia| INTRODUCTION: Facioscapulohumeral muscular dystrophy (FSHD) is prevalent innate autosomal dominant form of muscular dystrophy (MD) involving asymmetrical progression of muscle weakness.
Angel Gupta +4 more
doaj +1 more source
Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. [PDF]
, 1999 J Med Genet. 1999 Aug;36(8):629-32. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. Munar-Qués M, Pedrosa JL, Coelho T, Gusmão L, Seruca R, Amorim A, Sequeiros J. Grupo de Estudio de la PAF, Palma
AMORIM, A. +6 more
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