Results 81 to 90 of about 1,552 (162)

Sarcoglycanopathies: From clinical diagnosis to new promising therapies. [PDF]

J Neuromuscul Dis
Borland H, Diaz-Manera J.
europepmc   +1 more source

Alpha Sarcoglycanopathy in a Turkish Family [PDF]

SAJ Case Reports, 2018
Gurkan G, Ozlem BAG, Akıncı G, Unalp A, Diniz G   +4 more
openaire   +1 more source

Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction?

Dilated cardiomyopathy is a feature of Duchenne and Becker muscular dystrophies and occasionally of sarcoglycanopathies. Its pathogenesis is unknown. Patients with myotonic dystrophy have an impairment of coronary smooth muscle and this could contribute ...
Mercuri E, Bushby K, Taylor J, Gnecchi-Ruscone T, Pogue R, Camici PG, Paternostro G, Muntoni F, Sewry C   +8 more
core   +2 more sources

Nanohybridization as a Route to a Water-Friendly Therapeutic Tool for Rescuing Misfolded Proteins. [PDF]

ACS Nanosci Au
Bortoluzzi M, Cencini A, Rutigliano L, Rilievo G, Cecconello A, Tonolo F, Molinari S, Sacchetto R, Carotti M, Sandonà D, Martinello T, Ugolotti J, Fresch B, Litti L, Vianello F, Magro M.   +15 more
europepmc   +1 more source

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

Within a group of 76 sporadic/autosomal recessive limb girdle muscular dystrophy (LGMD) patients we tried to identify those with LGMD type 2C-E. Muscle biopsy specimens of 40 index patients, who had 22 affected sibs, were analyzed immuno-histochemically ...
Anderson LVB; Ginjaar HB; van der Kooi AJ; Ceelie H; Kneppers ALJ; van Meegen M; Barth PG; Busch HFM; Wokke JHJ; Bonnemann CG; Jeanpierre M; Bolhuis PA; Moorman AFM; de Visser M; Bakker E; Von Ommen GJB
core   +2 more sources

Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases. [PDF]

Int J Mol Sci
Akyürek EE, Erba M, Dalla Barba F, Sandonà D, Sacchetto R.   +4 more
europepmc   +1 more source

β -sarcoglycanopathy (LGMDR4): a study of muscle diversity using a Sgcβ KO mouse model

Limb Girdle Muscular Dystrophy type R4 (LGMD R4 or β-sarcoglycanopathy) leads to severe muscle degeneration, with poor prognosis in a few years. Despite the genetic mutation, some muscles, like the calf or tongue, resist damage or hypertrophy.
GLORIANI, MICHELA
core  

Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes. [PDF]

Int J Mol Sci
Scano M, Benetollo A, Dalla Barba F, Akyurek EE, Carotti M, Sacchetto R, Sandonà D.   +6 more
europepmc   +1 more source

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants. [PDF]

Front Mol Biosci
Pushkov A, Chudakova D, Zhanin I, Nikitin S, Basargina E, Kuzenkova L, Andreeva D, Vasil'eva M, Vasichkin S, Gabitova A, Gaisina E, Saifullina E, Gamzatova A, Gilvanova O, Dudin V, Ergina O, Kurbatov S, Noskova E, Osipova E, Tihonova O, Fedotova E, Nuzhny E, Chernikova V, Yamshchikova A, Kyzina L, Irinina N, Rohlenko O, Kutkova Y, Popkova N, Ahunova A, Alexeeva A, Mazanova N, Sdvigova N, Gandaeva L, Zharova O, Podkletnova T, Sukhozhenko A, Rusakova A, Demianov D, Pakhomov A, Fisenko A, Savostyanov K.   +41 more
europepmc   +1 more source

MicroRNA as potential biomarker for severity, progression, and therapeutic monitoring in animal models of limb-girdle muscular dystrophy: a systematic review. [PDF]

Front Cell Neurosci, 2023
Oliveira MTJS, da Silva Santana TAB, Costa MCM, Borges GF, de Miranda FS, Slaibi-Filho J, Luiz WB, Campos LCG.   +7 more
europepmc   +1 more source