Results 191 to 200 of about 16,504 (255)

Unraveling Novel Pathogenic CAPN3 Variants in Limb-Girdle Muscular Dystrophy R1 [PDF]

Sukanya Banerjee, Bishan Dass Radotra
openalex   +1 more source

Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization. [PDF]

Acta Neuropathol Commun
Liang X, Si J, Xie H, Guan Y, Lin W, Lin Z, Zheng G, Wei X, Xiong X, Zhuang Z, Shang X.   +10 more
europepmc   +1 more source

The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice [PDF]

Ackroyd, M R, Ashraf, A, Booler, H, Brown, S C, Fernandez-Fuente, M, Imperial College London, Kavishwar, M, Kim, J, Lacey, E, Muntoni, F, Parr, C, Terry, R, UCL, Wells, D J, Wells, K E, Whitmore, C   +15 more
core   +1 more source

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features. [PDF]

Brain
Iruzubieta P, Damborenea A, Ioghen M, Bajew S, Fernandez-Torrón R, Töpf A, Herrero-Reiriz Á, Epure D, Vill K, Hernández-Laín A, Manterola M, Azkargorta M, Pikatza-Menoio O, Pérez-Fernandez L, García-Puga M, Gaina G, Bastian A, Streata I, Walter MC, Müller-Felber W, Thiele S, Moragón S, Bastida-Lertxundi N, López-Cortajarena A, Elortza F, Gereñu G, Alonso-Martin S, Straub V, de Sancho D, Teleanu R, López de Munain A, Blázquez L.   +31 more
europepmc   +1 more source

Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A. [PDF]

Front Genet
Feng W, Cao Y, Ren R, Yang X, Cao C, Jiang H, Du G.   +6 more
europepmc   +1 more source

Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities. [PDF]

Int J Mol Sci
Poudel BH, Fletcher S, Wilton SD, Aung-Htut M.   +3 more
europepmc   +1 more source

[Autosomal recessive limb-girdle muscular dystrophy-10. Case report]. [PDF]

Rev Med Inst Mex Seguro Soc
Pérez-Arzola AA, Juárez-Melchor D, Crisanto-López IE, Vera-Loaiza A, Hernández-Castañeda Y, Guzmán-Santiago TA, Jiménez-Pérez B, Rodríguez-Hurtado PO, Salazar-Bonilla W.   +8 more
europepmc   +1 more source

Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study. [PDF]

BMC Neurol
Doody A, Alfano L, Diaz-Manera J, Lowes L, Mozaffar T, Mathews KD, Weihl CC, Wicklund M, Hung M, Statland J, Johnson NE, GRASP-LGMD Consortium.   +11 more
europepmc   +1 more source

Adult late-onset limb-girdle muscular dystrophy R1/2A complicated by parathyroid adenoma and sick sinus syndrome: a case report and literature review. [PDF]

BMC Musculoskelet Disord
Hong X, Jiang F, Wang L.
europepmc   +1 more source