Results 141 to 150 of about 56,560 (289)
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
Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. [PDF]
, 1989 Peter Lunt +2 more
openalex +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
core
It’s not just physical: a qualitative study regarding the illness experiences of people with facioscapulohumeral muscular dystrophy [PDF]
, 2016 Minne Bakker +3 more
openalex +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
Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments [PDF]
, 2018 Johanna Hamel, Rabi Tawil
openalex +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
core +1 more source