Results 221 to 230 of about 54,763 (333)

Editorial: Inflammation in muscular dystrophies: mediators, mechanisms, and therapeutics. [PDF]

Front Immunol
Villa C, Farini A, Torrente Y.
europepmc   +1 more source

Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies. [PDF]

Child Neurol Open, 2023
Ramani PK, Fawcett K, Guntrum D, Samuel H, Ciafaloni E, Veerapandiyan A.   +5 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

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

Limb-girdle muscular dystrophies: A scoping review and overview of currently available rehabilitation strategies. [PDF]

Muscle Nerve
D'Este G, Spagna M, Federico S, Cacciante L, Cieślik B, Kiper P, Barresi R.   +6 more
europepmc   +1 more source

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients. [PDF]

Orphanet J Rare Dis, 2023
Lin F, Yang K, Lin X, Jin M, Chen L, Zheng FZ, Qiu LL, Ye ZX, Chen HZ, Lin MT, Wang N, Wang ZQ.   +11 more
europepmc   +1 more source

ALTERATIONS OF ASPARTATE- AND ALANINETRANSAMINASE IN MICE WITH HEREDITARY MUSCULAR DYSTROPHY

, 1967
Shigekatsu Tsuji, Kazuyuki Matsushita
openalex   +2 more sources

Serum Enzyme Activity in Muscular Dystrophy [PDF]

, 1960
W. H. Thomson, P. Leyburn, J. N. Walton
openalex   +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

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families. [PDF]

BMC Musculoskelet Disord
Mao B, Cai X, Lin N, Jiang Y, Hao N, Dai Y, Guo D, He D, Xue H, Chen L, He Q, Zhang M, Chen M, Huang H, Xu L.   +14 more
europepmc   +1 more source