Results 91 to 100 of about 2,165 (170)

Genotype-Phenotype Correlation of 12S-rRNA and 16S-rRNA Variants with CPEO Plus is Unproven

, 2018
Josef Finsterer, Sinda Zarrouk‐Mahjoub
openalex   +1 more source

Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review. [PDF]

Genes (Basel)
Abu-Amero KK, Almadani B, Abualkhair S, Hameed S, Kondkar AA, Sollazzo A, Yu AC, Busin M, Zauli G.   +8 more
europepmc   +1 more source

Chronic Progressive External Ophthalmoplegia: A Case Report. [PDF]

Cureus
Seemongal-Dass RV, Gracen DJ, Seemongal-Dass RR, Chang B.   +3 more
europepmc   +1 more source

The Presence of the mtDNA4977 Deletion Does Not Necessarily Mean That It is Responsible for Major Depression [Letter]. [PDF]

Neuropsychiatr Dis Treat
Finsterer J.
europepmc   +1 more source

Diagnostic Value of Muscle Biopsy for the Evaluation of Adult Myopathy in Daily Clinical Practice. [PDF]

Diagnostics (Basel)
Kleinveld VEA, Wanschitz J, Hotter A, Mayr JA, Höftberger R, Löscher WN, Horlings CGC.   +6 more
europepmc   +1 more source

Intracellular amyloidosis in peripheral nerve and skeletal muscle. [PDF]

J Neuropathol Exp Neurol
Grafham GK, Mak G, Grant S, Murphy A, Baker SK, Tarnopolsky M, Lu JQ.   +6 more
europepmc   +1 more source

Protein Nitration in Patients with Mitochondrial Diseases. [PDF]

Antioxidants (Basel)
Livramento JB, Rodrigues GS, Faber J, de Souza Filho LA, Moura FV, Barros CDS, Pinto WBVR, Schmidt B, Oliveira ASB, Kiyomoto BH, Tengan CH.   +10 more
europepmc   +1 more source

Mitochondrial tRNA-Derived Diseases. [PDF]

Int J Mol Sci
Petropoulou A, Kypraios N, Rizopoulou D, Kouvela A, Maniatis A, Anastasopoulou K, Anastogianni A, Korfiatis T, Grafanaki K, Stamatopoulou V, Stathopoulos C.   +10 more
europepmc   +1 more source

Anaesthesia Concepts in Patients with Chronic Progressive External Ophthalmoplegia Undergoing Ophthalmic Surgery-A Retrospective Cohort Analysis. [PDF]

J Clin Med
Leister N, Wendt S, Hedergott A, Heindl LM, Rokohl AC, Stoll SE, Gordon E, Böttiger BW, Fricke J, Schick VC.   +9 more
europepmc   +1 more source

Serum chitotriosidase-1 (CHIT1) as candidate biomarker for mitochondriopathies. [PDF]

J Neurol
Foerster L, Scholle L, Mayer T, Schneider I, Stoltenburg-Didinger G, Delank KS, Kraya T, Hahn A, Strube D, Koelsch AK, Naegel S, Barba L, Volk AE, Otto M, Mensch A.   +14 more
europepmc   +1 more source