Results 91 to 100 of about 1,552 (162)

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

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]

Hum Genomics
Khalilian S, Fathi M, Tangestani R, Larki P, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source

Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice. [PDF]

J Clin Invest
Mokhonova EI, Helzer D, Malik R, Mamsa H, Walker J, Maslanka M, Fleser TS, Afsharinia MH, Liu S, Holmberg J, Zhou ZH, Deeds EJ, Hansen KC, McNally EM, Crosbie RH.   +14 more
europepmc   +1 more source

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma. [PDF]

Genes (Basel)
Taneva A, Gresham D, Guergueltcheva V, Chamova T, Bojinova V, Gospodinova M, Katzarova M, Petkov R, Voit T, Aneva L, Asenov O, Georgieva B, Mihaylova V, Bichev S, Todorov T, Todorova A, Kalaydjieva L, Tournev I.   +17 more
europepmc   +1 more source

Repairing the defective folding of alpha-sarcoglycan is needed to promote myogenic cell engraftment in 3D artificial muscle models of LGMDR3. [PDF]

Skelet Muscle
Maghin E, Benetollo A, Scano M, Caccin P, Carraro E, Piccoli M, Sandonà D.   +6 more
europepmc   +1 more source

Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report. [PDF]

Mol Genet Genomic Med
Pityrigkas E, Poulidou V, Kalampokini S, Liouta E, Pepe G, Spilioti M, Kimiskidis VK.   +6 more
europepmc   +1 more source

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights. [PDF]

Clin Genet
Rathod RS, Kolar G, Vavilala S, Redishetty S, Pawar S, Reddy P, Shah A, Nerakh G.   +7 more
europepmc   +1 more source

TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility. [PDF]

Eur J Neurol
Milone M, Nicolau S, Niu Z, Liewluck T, Sorenson EJ, Shen XM, Harper CM, Litchy WJ.   +7 more
europepmc   +1 more source

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

Clinicopathological Profile of Muscle Diseases Presenting the Adult Population in Northern India: Preliminary Analysis in a Limited Resource Setting. [PDF]

Cureus
Agarwal A, Ghosh Kar A, Joshi D, Harshanayana H.   +3 more
europepmc   +1 more source