Results 111 to 120 of about 10,564 (213)

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques

, 2008
The Western blot technique is currently the standard detection method for suspected limb girdle muscular dystrophy (LGMD) 2A (calpainopathy). This is the first report in the English literature of the successful application of immunohistochemical ...
HAWKINS, Cynthia, ALMAN, Ben, BIGGAR, Doug, KOLSKI, Hanna K., ZATZ, Mayana, PAULA, Flavia de, VAJSAR, Jiri   +6 more
core   +1 more source

Symposia

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice

The Journal of Clinical Investigation
The dystrophin-glycoprotein complex (DGC) is composed of peripheral and integral membrane proteins at the muscle cell membrane that link the extracellular matrix with the intracellular cytoskeleton.
Ekaterina I. Mokhonova, Daniel Helzer, Ravinder Malik, Hafsa Mamsa, Jackson Walker, Mark Maslanka, Tess S. Fleser, Mohammad H. Afsharinia, Shiheng Liu, Johan Holmberg, Z. Hong Zhou, Eric J. Deeds, Kirk C. Hansen, Elizabeth M. McNally, Rachelle H. Crosbie   +14 more
doaj   +1 more source

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I

Mutations in the gene encoding fukutin-related protein cause limb-girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure.
Bushby K, Eagle M, Wrogemann K, Frosk P, Voit T, Shirodaria C, Poppe M, Straub V, Greenberg C, Muntoni F, Hilton-Jones D, Bourke J   +11 more
core  

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

<i>LMNA</i> c.1622G>A mutation and myopathic changes in a family with limb-girdle muscular dystrophy: A case report. [PDF]

Exp Ther Med
Zhu Y, Wang Q, Zhang T.
europepmc   +1 more source

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +1 more source

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