Real‐Time MRI With Deep Learning for Efficient Evaluation of Neuromuscular Breathing Impairment
MedComm, Volume 7, Issue 3, March 2026.Breathing impairment is an important and common symptom in neuromuscular disorders. Reliable diagnostics are highly warranted. Real‐time MRI and deep learning‐based lung segmentation were used to analyze respiratory mechanics in patients with Pompe disease, a myopathy with diaphragmatic weakness, compared to healthy controls.
Rachel Zeng +13 more
wiley +1 more source
Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation [PDF]
, 2015 We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52.
Antonini, Giovanni +8 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni +9 more
wiley +1 more source
Permutation entropy and irreversibility in gait kinematic time series from patients with mild cognitive decline and early alzheimer’s dementia [PDF]
, 2019 Gait is a basic cognitive purposeful action that has been shown to be altered in late stages of neurodegenerative dementias. Nevertheless, alterations are less clear in mild forms of dementia, and the potential use of gait analysis as a biomarker of ...
Algarra Lucas, María del Carmen +12 more
core +2 more sources
Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease [PDF]
, 2017 The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping.
Bergsma, A.J. (Atze) +4 more
core +1 more source
Sensory neuropathy in patients with Pompe disease: a case series in Iran
BMC Musculoskeletal DisordersBackground Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of
Marzieh Babaee +6 more
doaj +1 more source
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. [PDF]
, 2013 IntroductionDuchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren.
Abresch, R Ted +12 more
core +2 more sources
Preventing hereditary cancers caused by opportunistic carcinogens [PDF]
, 2011 Objectives Previous studies reported inherited BRCA1/2 deficits appear to cause cancer by impairing normal protective responses to some carcinogens.
Bernard Friedenson
core +2 more sources
Infantile Pompe Disease: Atypical Variant
Journal of Neuromuscular Diseases, 2015 Pompe disease (glycogen storage disease type II, glycogenosis II, or acid maltase defi ciency) is a lysosomal storage disorder in which an alpha-glucosidase (GAA) defi ciency causes intralysosomal accumulation of glycogen in all tissues, notably skeletal muscles. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in
Thaís, Rodrigues, Carlo D, Marrone
openaire +3 more sources