Results 91 to 100 of about 988,052 (165)

Early identification of LPIN1 variant in a child with severe myoglobinuria and a history of sibling deaths. [PDF]

CEN Case Rep
Ahmed MMH, Riaz S, Fatima N, Qasim SM.
europepmc   +1 more source

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing. [PDF]

J Neuromuscul Dis
Pion E, Cossée M, Biancalana V, Bourdain CA, Bouchet-Seraphin C, Fauré J, Froissart R, Leturcq F, Menassa R, Metay C, Michel-Calemard L, Nectoux J, Petit F, Rendu J, Richard P, Sternberg D, Vuillaumier-Barrot S, Goethem CV, Thèze C, Attarian S, Krahn M, Gorokhova S.   +21 more
europepmc   +1 more source

Coexistence of VLCAD deficiency and Hashimoto's thyroiditis: a rare case report. [PDF]

BMC Endocr Disord
Gunay YE, Aydın G, Dulger AC.
europepmc   +1 more source

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy. [PDF]

Eur J Pediatr
Aires Martins I, Baptista de Lima J, Coelho MP, Bandeira A, Martins E, Correia J.   +5 more
europepmc   +1 more source

Rhabdomyolysis: a narrative review. [PDF]

Arq Neuropsiquiatr
Tengan CH, Oliveira ASB, Carvalho AAS, Souza CDS, Sobreira CFDR, Zanoteli E, Silva HCAD.   +6 more
europepmc   +1 more source

Phenotype-specific muscle proteomic profiling in titinopathies. [PDF]

Acta Neuropathol Commun
Perrin A, Casenave-Camgaston MR, Rabillard B, Raynaud F, Urbach S, Seveno M, Navarro AM, Tendero-Baziou A, Matecki S, Cancès C, Durigneux J, Biancalana V, Petit F, Tard C, Molin A, Godin M, Latypova X, Rendu J, Jeanne M, Juntas Morales R, Salort-Campana E, Verschueren A, Krahn M, Gorokhova S, Attarian S, Solé G, Esselin F, Martin-Négrier ML, Métay C, Jorgensen C, Bergougnoux A, Koenig M, Cossée M.   +32 more
europepmc   +1 more source

How close are modern broilers to their physiological ceiling? Have genetic, nutritional, and precision technologies reached biological limits? A systems biology perspective through physiological ceiling theory. [PDF]

Poult Sci
Hossain ME, Amin NB.
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

Metabolic Myopathy [PDF]

, 2020
openaire   +1 more source

New Insights into Skeletal Muscle Metabolism in Pathological and Physiological Conditions: A Multidisciplinary and Translational Approach. [PDF]

Biology (Basel)
Antinozzi C, Sgrò P, Di Luigi L.
europepmc   +1 more source