Results 81 to 90 of about 713 (148)

UvA-DARE (Digital Academic Repository) Link to publication Citation for published version (APA): Calpainopathy-A Survey of Mutations and Polymorphisms

, 1999
General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content ...
C Pollitt, E Bakker, J E M A Anderson, H B Ginjaar, K Bushby, H Topaloglu, Grimbergen R Pogue, P Gallano, J S Beckmann, L V B Anderson, B Eymard, A Van Der Kooi, R Pogue, C Roudaut, A Saenz, M De Visser, C Beley, C De Diego, A Lasa, M Fardeau, J E M A Grimbergen, A-M Cobo, A Lopez De Munain, I Richard, L V B Beckmann, J S, J A Urtizberea   +26 more
core  

Molecular characterization of induced pluripotent stem cells derived from patients with calpainopathy

iPSC ir pārprogrammētas somatiskās šūnas, kam piemīt spēja pašatjaunoties un attīstīties par jebkuru ķermeņa šūnu tipu. Pateicoties tām, iPSC kļuva par pētniecības rīku slimību modelēšanā, zāļu izveidē un testēšanā.
Tvoronoviča, Anastasija
core  

Inflammation-Linked Muscle Atrophy in Limb Girdle Muscular Dystrophy R1 (LGMDR1): Insights into Disease Mechanisms. [PDF]

Curr Issues Mol Biol
Banerjee S, Radotra BD, Luthra-Guptasarma M, Goyal MK.   +3 more
europepmc   +1 more source

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia

, 2019
\ua92019 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the CAPN3 gene.
Marjanovic A, Johnson K, Milic-Rasic V, Peric M, Peric S, Durdic M, Milenkovic S, Kosac A, Bozovic I, Maksimovic R, Lavrnic D, Brankovic M, Glumac JN, Banko B, Rakocevic-Stojanovic V, Jankovic M, Stevanovic J   +16 more
core  

Calpainopathy in Chile, first cases reported

Neuromuscular Disorders, 2016
Bevilacqua, Jorge, Mathieu, Y., Krahn, M., Bartoli, M., Castiglioni, C., Kleinsteuber Saa, Karin, Díaz Jeraldo, Juan, Puppo, F., Cerino, M., Courrier, S., Gorokhova, S., Miranda Moreno, Natalia, Trangulao, Alejandra, González Hormazábal, Patricio, Avaria Benapres, María de los Angeles, Urtizberea, J., Caviedes Fernández, Pablo, Jara Sosa, Lilian, Levy, N.   +18 more
openaire   +2 more sources

Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity. [PDF]

Int J Mol Sci
D'Este G, Giorgetti A, Cassandrini D, Magri F, Ronchi D, Rubegni A, Lopergolo D, Malandrini A, Merlini L, Vattemi G, Tonin P, Barresi R.   +11 more
europepmc   +1 more source

Treatabolome for finely targeting muscle pathology in LGMD. [PDF]

Acta Myol
Angelini C.
europepmc   +1 more source

Diagnostic Utility of Long-Read Genome Sequencing in a Late-Onset Muscular Dystrophy: A Case of Calpainopathy Revealed by Variant Phasing

Background: Diagnosing adult-onset muscular dystrophies is often challenging due to phenotypic overlap and the unavailability of parental samples for genetic phasing in recessive disorders.
Prasit Phowthongkum, Monnat Pongpanich, Chanchira Sriraksasin, Vorasuk Shotelersuk   +3 more
core  

Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand? [PDF]

J Neuromuscul Dis
Faedo E, Tahiri I, Alimi C, Shoaito H, Severa G, Olivier S, Degove S, Richard I, Malfatti E.   +8 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]

Glob Med Genet
Mathur P, Kaur A, Vijay U, Gupta A, Agarwal K, Agrawal L.   +5 more
europepmc   +1 more source