Results 211 to 220 of about 169,015 (342)

VARIABILITY OF INCIDENCE AND CLINICAL MANIFESTATION OF MOUSE HEREDITARY MUSCULAR DYSTROPHY ON HETEROGENEOUS GENETIC BACKGROUNDS [PDF]

, 1961
Rolf Loosli, Elizabeth S. Russell, Willys K. Silvers, Janice L. Southard   +3 more
openalex   +1 more source

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

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report. [PDF]

Front Genet
Tan M, Huo H, Feng J, Wang C, Jiang S.
europepmc   +1 more source

Oxygen Consumption and Anaerobic Glycolysis of the Muscle from the Patients with Progressive Muscular Dystrophy

, 1963
Keiya Tada, Haruko Hirono, Hisashi Miyazawa   +2 more
openalex   +2 more sources

Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe bulbar function trajectories in patients with spinal muscular atrophy (SMA) type 1 treated with nusinersen in the UK and Italy. Method In two previously reported, retrospective, observational cohort studies, we observed the 2‐year change in the Children's Eating and Drinking Ability Scale (CEDAS) (the revised and optimized ...
Georgia Stimpson, Lavinia Fanelli, Eleanor Conway, Emily Johnson, Beatrice Berti, Mariacristina Scoto, Francesco Muntoni, Eugenio Mercuri, Giovanni Baranello, the p‐FOIS/CEDAS and OrSAT Working Group, Nikki Cornell, Giulia Stanca, Giorgia Coratti, Marika Pane   +13 more
wiley   +1 more source

Phase angle as a predictor of motor function decline in children with Duchenne muscular dystrophy. [PDF]

BMC Pediatr
Hu Q, Chen X, Luo S, Wang Y, Fan P, Wu X, Zhou H, Xu H, Li N, Cai X.   +9 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

Late-Stage Skeletal Muscle Transcriptome in Duchenne Muscular Dystrophy Shows a BMP4-Induced Molecular Signature. [PDF]

J Cachexia Sarcopenia Muscle
Sothers H, Hu X, Crossman DK, Si Y, Alexander MS, McDonald MN, King PH, Lopez MA.   +7 more
europepmc   +1 more source

PROGRESSIVE MUSCULAR DYSTROPHY OF THE DUCHENNE TYPE IN FEMALES AND ITS MODE OF INHERITANCE [PDF]

, 1960
Victor Dubowitz
openalex   +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