Results 81 to 90 of about 7,618,843 (150)

Delineating the <i>CTBP1</i>-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants. [PDF]

Int J Mol Sci
Akdaş EY, Lu D, Zhang L, Cheng M, Bashiri Dezfouli A, Wollenberg B.   +5 more
europepmc   +1 more source

PGC-1 coactivators and the regulation of skeletal muscle fiber-type determination [PDF]

, 2011
Handschin, Christoph, Christoph Handschin, Bruce M. Spiegelman, Spiegelman, Bruce M.   +3 more
core   +1 more source

Congenital muscle fibre type disproportion: clinical, morphological and biochemical findings in children

, 1989
Muscle biopsies from quadriceps femoris muscle of normal subjects and subjects with symptoms of congenital myopathy, aged 1-3 years, were examined for morphological and biochemical differences. Four patients showed clinical signs of Congenital Fibre Type
VERCESI L, DOSSENA, MAURIZIA, PASTORIS, ORNELLA, GRANA M, SCELSI R, BIANCHI E.   +5 more
core  

The Clinical, Histological, and Genetic Spectrum of <i>RYR1</i> Variants-A Multi-Center Israeli Cohort Study. [PDF]

J Clin Med
Ginsberg M, Michelson M, Aharoni S, Sagie L, Michaeli Y, Rotenberg D, Finkelshtein V, Yosovich K, Argov Z, Nissenkorn A, Lev D, Sadeh M, Dabby R.   +12 more
europepmc   +1 more source

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients. [PDF]

Eur J Hum Genet
Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Pagliarani S, Ronchi D, Fortunato F, Ciscato P, Cassandrini D, Fattori F, D'Angelo MG, Albamonte E, Nigro V, Sciacco M, Corti S, Comi GP, Piga D.   +17 more
europepmc   +1 more source

Fatal Infantile Cardiomyopathy Associated with a Homozygous <i>MYL2</i> c.413T>A (p.Met138Lys) Variant: A Case Expanding the Recessive <i>MYL2</i> Phenotypic Spectrum. [PDF]

Genes (Basel)
Uddin MS, Alnamshan Y, Shafeen K, Jahan SN, AlMadhi N, Gurumurthy K, Hassan AB, Esmail A, AlQannas M.   +8 more
europepmc   +1 more source

Congenital core myopathy linked to <i>SOX5</i>: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome. [PDF]

J Neuromuscul Dis
Staedler K, Gerasimenko A, Nava C, Heron D, Schaerer E, Gitiaux C, Authier FJ, Stojkovic T, Malfatti E, Villar-Quiles RN.   +9 more
europepmc   +1 more source

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years. [PDF]

J Neurol
Zoppi D, Russo R, Boemia V, De Maria M, Marciano E Ortolano A, Vallefuoco F, D'Amico E, Di Costanzo G, Russo A, Somma T, Nolano M, Iodice R, Cavallo LM, Manganelli F, Ruggiero L.   +14 more
europepmc   +1 more source

Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives. [PDF]

Biomolecules
Lanza M, Zito E, Dinoi G, Buono AV, De Luca A, Imbrici P, Liantonio A, Conte E.   +7 more
europepmc   +1 more source

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel. [PDF]

J Neuromuscul Dis
Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bönnemann CG, Ceyhan-Birsoy O.   +30 more
europepmc   +1 more source