Results 91 to 100 of about 258 (116)

From calcium pump to metabolic hub: emerging genetic phenotypes and metabolic networks of SERCA2 in skeletal muscle. [PDF]

Front Physiol
Lei S, Qu Y, Yan J, Nan F, Liu S, Pan W, Yu C.   +6 more
europepmc   +1 more source

A rare homozygous <i>CAPN3</i> variant with distinct clinical features in unrelated families of Iraqi Jewish descent. [PDF]

J Neuromuscul Dis
Assia Batzir N, Orenstein N, Yaron Y, Kuzminsky A, Nevo Y, Konen O, Bazak L, Lidzbarsky G, Basel-Salmon L, Aharoni S.   +9 more
europepmc   +1 more source

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

The 21-base pair deletion mutant Calpain3 does not inhibit wild-type Calpain3 activity. [PDF]

Genes Dis
Maitra S, Oh S, Choe YJ, Kim J, Kim NC.
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

Human calpain-3 and its structural plasticity: Dissociation of a homohexamer into dimers on binding titin. [PDF]

J Biol Chem
Ye Q, Henrickson A, Demeler B, Balasco Serrão VH, Davies PL.   +4 more
europepmc   +1 more source

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort. [PDF]

Turk J Med Sci
Şahin İO, Karataş E, Demir M, Tan B, Per H, Özkul Y, Dündar M.   +6 more
europepmc   +1 more source

A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3. [PDF]

Intern Med
Komaki S, Kubota A, Katsuse K, Kitamura A, Maeda M, Matsukawa T, Eura N, Saito Y, Nishino I, Toda T.   +9 more
europepmc   +1 more source

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice. [PDF]

Orphanet J Rare Dis
Severa G, Souvannanorath S, Tahiri I, Alimi C, Slioui A, Villa L, Salort-Campana E, Leturcq F, Streichenberger N, Krahn M, Solé G, Feasson L, Nadaj-Pakleza A, Tard C, Stojkovic T, Sacconi S, Malfatti E.   +16 more
europepmc   +1 more source

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Capn3b-deficient zebrafish model reveals a key role of autoimmune response in LGMDR1

Journal of Genetics and Genomics
Mutations in calcium-dependent papain-like protease CALPAIN3 (CAPN3) cause Limb-Girdle Muscular Dystrophy Recessive Type 1 (LGMDR1), the most common limb-girdle muscular dystrophy in humans. In addition to progressive muscle weakness, persistent inflammatory infiltration is also a feature of LGMDR1.
Yayue Chen, Delai Huang, Ying Shan
exaly   +3 more sources