Results 181 to 190 of about 3,285 (240)

Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances. [PDF]

MedComm (2020)
Mei J, Ding P, Gao C, Zhou J, Li Z, Zhang C, Gao J.   +6 more
europepmc   +1 more source

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

, 1992
Carlos T. Moraes, Enzo Ricci, E. Bonilla, S. DiMauro, Eric A. Schon   +4 more
openalex  

Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal Seizures. [PDF]

Neurology
Bergonzini L, Carli S, Pelle S, Pettenuzzo I, Bonetti S, Santi E, Visconti C, Maffei M, Sheremet M, Lamantea E, Marsala A, Klub O, Gentile V, Cordelli DM, Garone C.   +14 more
europepmc   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity. [PDF]

Ann Clin Transl Neurol
Lee EH, Kim-Mcmanus O, Yang JH, Haas R, Zaki MS, Abdel-Salam GMH, Nakamura Y, Abdel-Hamind MS, Ebrahimi-Fakhari D, Alecu JE, Brunetti-Pierri N, Srinivasan VM, Gowda VK, Gross S, Alanay Y, Najarzadeh Totbati P, Yadavilli M, Friedman L, Ojeda NM, Gleeson JG.   +19 more
europepmc   +1 more source

Creation and Validation of the Major Pediatric Mitochondrial Cytopathies Minimum Data Set: Consensus from a Moroccan-Tunisian Delphi Study. [PDF]

Children (Basel)
El Guessabi S, Belayachi J, Ben Youssef Turki I, Kraoua I, Galai S, Lachraf H, Ratbi I, Abouqal R, Kriouile Y.   +8 more
europepmc   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy

Rohit Sharma, Yaïr Glick, Daniel Bell
openalex   +1 more source

Untargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy. [PDF]

Int J Mol Sci
Bax BE, Uçar SK.
europepmc   +1 more source

Causes of and Solutions to Mitochondrial Disorders: A Literature Review. [PDF]

Int J Mol Sci
Belousova V, Ignatko I, Bogomazova I, Sosnova E, Pesegova S, Samusevich A, Zarova E, Kardanova M, Skorobogatova O, Maltseva A.   +9 more
europepmc   +1 more source

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report. [PDF]

J Med Case Rep
Gunawardena K, Praveenan S, Dissanayake VHW, Ratnayake P.   +3 more
europepmc   +1 more source