Results 211 to 220 of about 10,050,443 (381)

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity

, 1998
Michael G. Hanna, Isabelle Nelson, J A Morgan-Hughes, Nicholas Wood   +3 more
openalex   +1 more source

Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu, Hao Zhang, Chao Gao, Qiuhua Yu, Moli Fan, Lin‐Jie Zhang, Haipeng Zhang, Hengri Cong, Yuzhen Wei, Chotima Böttcher, Alexej Verkhratsky, Friedemann Paul, Fu‐Dong Shi, Tian Song   +13 more
wiley   +1 more source

Biallelic IARS2 mutations presenting as sideroblastic anemia

Haematologica, 2020
Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann   +15 more
doaj   +1 more source

Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient miceResearch in context

EBioMedicine, 2019
Background: Thymidine kinase 2 (TK2) catalyses the phosphorylation of deoxythymidine (dThd) and deoxycytidine (dCtd) within mitochondria. TK2 deficiency leads to mtDNA depletion or accumulation of multiple deletions.
Cora Blázquez-Bermejo, David Molina-Granada, Ferran Vila-Julià, Daniel Jiménez-Heis, Xiaoshan Zhou, Javier Torres-Torronteras, Anna Karlsson, Ramon Martí, Yolanda Cámara   +8 more
doaj  

Skeletal Muscle Mitochondrial DNA Injury in Patients With Unilateral Peripheral Arterial Disease

, 1999
Hari K. Bhat, William R. Hiatt, Charles L. Hoppel, Eric P. Brass   +3 more
openalex   +1 more source

Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease [PDF]

, 2001
R. Hameed, F. Raafat, Pratibha Ramani, G. HARRISON GRAY, Helen P. Roper, D V Milford   +5 more
openalex   +1 more source

Cognitive Resilience in Apolipoprotein ε4 Carrier Women Predicted by Neuron‐Derived Extracellular Vesicles

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Apolipoprotein (APOE) ε4 allele is the strongest genetic risk factor for late‐onset Alzheimer's disease (AD); however, many ε4 carriers remain cognitively intact into old age. Leveraging plasma neuron‐derived extracellular vesicles (NDEVs), we sought to identify biomarkers of cognitive resilience and their interplay with APOE ...
Apostolos Manolopoulos, Maja Mustapic, Carlos Nogueras‐Ortiz, Francheska Delgado‐Peraza, Krishna A. Pucha, Pamela J. Yao, Joseph Blommer, Michael P. Vreones, William York, De' Larrian Knight, Stephen R. Rapp, Aladdin H. Shadyab, JoAnn E. Manson, Ramon Casanova, Robert B. Wallace, Luigi Ferrucci, Susan M. Resnick, Dimitrios Kapogiannis   +17 more
wiley   +1 more source

The Effect of Photobiomodulation on the Treatment of Hereditary Mitochondrial Diseases. [PDF]

J Lasers Med Sci, 2023
Baskerville R, Krijgsveld N, Esser P, Jeffery G, Poulton J.   +4 more
europepmc   +1 more source

Mitochondrial involvement in Alzheimer’s disease

, 1999
E. Bonilla, Kurenai Tanji, Michio Hirano, Tuan Vu, S. DiMauro, Eric A. Schon   +5 more
openalex   +1 more source

Effect of ‘binary mitochondrial heteroplasmy’ on respiration and ATP synthesis: implications for mitochondrial diseases [PDF]

, 2001
Bernard Korzeniewski, Monique MALGAT, Thierry Letellier, Jean‐Pierre Mazat   +3 more
openalex   +1 more source