Results 311 to 320 of about 321,114 (362)

The fetal neurologist: Strategies to improve training, practice, and clinical care

Developmental Medicine &Child Neurology, EarlyView.
Abstract Fetal neurology addresses counselling parents on the clinical significance of brain anomalies encountered in their fetus, including disruptive lesions (i.e. stroke, periventricular haemorrhagic infarction, and infection), and genetically based cortical (i.e.
Tally Lerman‐Sagie, Anthony R. Hart
wiley   +1 more source

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common. [PDF]

Mol Genet Genomic Med
Karthikeyan P, Kumar SH, Khanna-Gupta A, Bremadesam Raman L.   +3 more
europepmc   +1 more source

ELECTROMYOGRAPHIC STUDIES ON NUTRITIONAL MUSCULAR DYSTROPHY IN CHICKS

, 1969
Hiroshi KADONO, Masahiro Hirose
openalex   +2 more sources

Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies. [PDF]

J Community Genet
Hoefel AML, Weschenfelder CA, Rosa BF, Donis KC, Saute JAM.   +4 more
europepmc   +1 more source

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development

The FEBS Journal, EarlyView.
Three skeletal muscle diseases are linked to HMGCR, a key enzyme in cholesterol synthesis. These diseases include a muscular dystrophy associated with pathogenic variants in the HMGCR gene, statin‐associated myopathy, and autoimmune anti‐HMGCR myopathy.
Mekala Gunasekaran, Hannah R. Littel, Natalya M. Wells, Johnnie Turner, Gloriana Campos, Sree Venigalla, Elicia A. Estrella, Partha S. Ghosh, Audrey L. Daugherty, Seth A. Stafki, Louis M. Kunkel, A. Reghan Foley, Sandra Donkervoort, Carsten G. Bönnemann, Laura Toledo‐Bravo de Laguna, Andres Nascimento, Daniel Natera‐de Benito, Isabelle Draper, Christine C. Bruels, Christina A. Pacak, Peter B. Kang   +20 more
wiley   +1 more source

Measuring what really matters: Why developing patient‐reported outcome measures in Duchenne muscular dystrophy should involve patients and caregivers

Developmental Medicine &Child Neurology, EarlyView.
Sebastian Friedrich, Gudrun Reeskau, Joachim Sproß, Thorsten Langer   +3 more
wiley   +1 more source

Activating AMPK improves pathological phenotypes due to mtDNA depletion

The FEBS Journal, EarlyView.
In a cellular model of mitochondrial disease characterized by progressive mitochondrial DNA (mtDNA) depletion, we found that advancing mitochondrial dysfunction triggers the early and specific activation of the mitochondria‐associated pool of AMP‐activated protein kinase (AMPK), a master regulator of energy homeostasis.
Gustavo Carvalho, Tran V. H. Nguyen, Bruno Repolês, Josefin M. E. Forslund, W. M. Ruchitha Rukmal Wijethunga, Farahnaz Ranjbarian, Isabela C. Mendes, Choco Michael Gorospe, Namrata Chaudhari, Micol Falabella, Mara Doimo, Sjoerd Wanrooij, Robert D. S. Pitceathly, Anders Hofer, Paulina H. Wanrooij   +14 more
wiley   +1 more source

Structure predictions of MuRF1‐UBE2 complexes identify amino acid residues governing interaction selectivity for each MuRF1‐E2 pair

The FEBS Journal, EarlyView.
MuRF1 is a major regulator of muscle atrophy, a side effect of chronic pathologies. As a RING‐type E3, MuRF1 depends on E2 enzymes to synthesize ubiquitin chains on substrates. MuRF1 can interact with four E2 enzymes, suggesting different physiological functions depending on the MuRF1‐E2 pair.
Agnès Claustre, Mélodie Malige, Maëlys Macheton, Lydie Combaret, Etienne Lefai, Pierre Fafournoux, Daniel Taillandier, Julien Henri, Cécile Polge   +8 more
wiley   +1 more source

Stress exposure in the mdx mouse model of Duchenne muscular dystrophy provokes a widespread metabolic response

The FEBS Journal, EarlyView.
A targeted mass spectrometry‐based metabolomics assay was conducted to identify the impact of stress exposure on the regulation of biological stress pathways in the mdx mouse model of Duchenne muscular dystrophy. We demonstrated a broad shift in the circulating stress‐relevant plasma metabolome associated with stressful scruff handling that was ...
Erynn E. Johnson, James M. Ervasti
wiley   +1 more source

Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Fragile X Syndrome (FXS) is a genetic disorder caused by the lack of FMRP, a crucial protein for brain development and function. FMR1 mutations are categorized into premutation and full mutation (FXSFull), with somatic mosaicism (FXSMos) modulating the FXS phenotype.
Fabiola Spolaor, Federica Beghetti, Weronika Piatkowska, Annamaria Guiotto, Roberta Polli, Elisa Bettella, Valentina Liani, Elisa di Giorgio, Zimi Sawacha   +8 more
wiley   +1 more source