Results 121 to 130 of about 2,671 (159)

Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy. [PDF]

Case Rep Neurol Med
Lertsakulbunlue S, Sakboonyarat B, Suwanpakdee P, Boonyawat B.   +3 more
europepmc   +1 more source

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping. [PDF]

Genes (Basel)
Cuk M, Unal B, Bevanda A, Hayes CP, Walker M, Abraamyan F, Beluzic R, Gornik KC, Ozretic D, Prutki M, Nie Q, Reddi HV, Ghazani AA.   +12 more
europepmc   +1 more source

Progress on cell therapy for skeletal muscle disorders. [PDF]

Adv Drug Deliv Rev
Azzag K, Perlingeiro RCR.
europepmc   +1 more source

An overview of insights and updates on TTN mutations in cardiomyopathies. [PDF]

Front Pharmacol
Saha S, Temaj G, Telkoparan-Akillilar P, Chichiarelli S, Saso L.   +4 more
europepmc   +1 more source

Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. [PDF]

Neurogenetics
Radziwonik-Fraczyk W, Elert-Dobkowska E, Karpinski M, Pilch J, Ziora-Jakutowicz K, Kubalska J, Szczesniak D, Stepniak I, Zaremba J, Sulek A.   +9 more
europepmc   +1 more source

Impaired myogenesis in limb girdle muscular dystrophy type 2B. [PDF]

Sci Rep
Souza LS, Ishiba R, Ribeiro-Junior AF, Zogbi IA, Bouragba D, Bigot A, Mouly V, Vainzof M.   +7 more
europepmc   +1 more source

Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort. [PDF]

BMC Neurol
Alhammad RM, Alrehaili ML, Albulaihe HM, Aljereish SS, Alanazy MH.   +4 more
europepmc   +1 more source

Proteomics Analysis Reveals Serum Biomarkers Reflecting Joint Pain and Physical Limitations in Knee Osteoarthritis Before and After Joint Replacement Surgery. [PDF]

Cartilage
Mustonen AM, Tampio J, Huttunen KM, Julkunen P, Säisänen L, Karttunen L, Reijonen J, Esrafilian A, Kuningas T, Kumar A, Kröger H, Nieminen P.   +11 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

An 86 amino acids motif in CAPN3 is essential for formation of the nucleolus-localized Def-CAPN3 complex

Biochemical and Biophysical Research Communications, 2022
Digestive-organ expansion factor (Def) is a nucleolar protein that recruits cysteine proteinase Calpain3 (CAPN3) into the nucleolus to form the Def-CAPN3 complex in both human and zebrafish. This complex mediates the degradation of the tumor suppressor p53 and ribosome biogenesis factor mitotic phosphorylated protein 10 (Mpp10) in nucleolus ...
Jinrong Peng, Delai Huang, Mingyun Wang   +2 more
exaly   +3 more sources