Isoenzyme distribution of creatine kinase and lactate dehydrogenase in serum and skeletal muscle in Duchenne muscular dystrophy, collagen disease, and other muscular disorders. [PDF]
, 1978 Walid G. Yasmineh +3 more
openalex +1 more source
Predictive Modeling For Real-Time Personalized Health Monitoring in Muscular Dystrophy Management [PDF]
arXivMuscular Dystrophy is a group of genetic disorders that progressively affect the strength and functioning of muscles, thereby affecting millions of people worldwide. The lifetime nature of MD requires continuous follow-up care due to its progressive nature.
arxiv
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
A Shape-Based Functional Index for Objective Assessment of Pediatric Motor Function [PDF]
arXivClinical assessments for neuromuscular disorders, such as Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), continue to rely on subjective measures to monitor treatment response and disease progression. We introduce a novel method using wearable sensors to objectively assess motor function during daily activities in 19 patients with ...
arxiv
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACTCavin‐4 was identified as a potential autoantigen for immune‐mediated rippling muscle disease (iRMD). To validate this, we developed and tested various immunoassays, including a cell‐based assay (CBA), cavin‐4 recombinant protein ELISA, and multi‐peptide ELISA. Among 19 iRMD patients, all exhibited muscle rippling, and 13 had percussion‐induced
Reghann G. LaFrance‐Corey +13 more
wiley +1 more source
Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa. [PDF]
, 1994 F. El Kerch +9 more
openalex +1 more source
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi +7 more
wiley +1 more source
Gap Junctions and Epileptogenesis: No Laughing Matter
EBioMedicine, 2016 Elisabetta Gazzerro, Pasquale Striano
doaj +1 more source