Results 211 to 220 of about 735,599 (336)

Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce. [PDF]

Brief Bioinform
Labory J, Boulaimen Y, Singh J, Ait-El-Mkadem Saadi S, Paquis-Flucklinger V, Bannwarth S, Bottini S.   +6 more
europepmc   +1 more source

Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy? [PDF]

J Cardiovasc Dev Dis, 2023
Singh N, Ren M, Phoon CKL.
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

Phase separation in mitochondrial fate and mitochondrial diseases. [PDF]

Proc Natl Acad Sci U S A
Chen Q, An S, Wang C, Zhou Y, Liu X, Ren W.   +5 more
europepmc   +1 more source

Adrenal Dysfunction in Mitochondrial Diseases. [PDF]

Int J Mol Sci, 2023
Corkery-Hayward M, Metherell LA.
europepmc   +1 more source

Corrigendum to “Targeted up-regulation of Drp1 in dorsal horn attenuates neuropathic pain hypersensitivity by increasing mitochondrial fission” [Redox Biol. 49(2022) 102216]

Redox Biology, 2022
Kun-Long Zhang, Shu-Jiao Li, Xue-Yin Pu, Fei-Fei Wu, Hui Liu, Rui-Qing Wang, Bo-Zhi Liu, Ze Li, Kai-Feng Li, Nian-Song Qian, Yan-Ling Yang, Hua Yuan, Ya-Yun Wang   +12 more
doaj   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Rewriting nuclear epigenetic scripts in mitochondrial diseases as a strategy for heteroplasmy control. [PDF]

EMBO Mol Med
Pérez MJ, Colombo RB, Real SM, Branham MT, Laurito SR, Moraes CT, Mayorga L.   +6 more
europepmc   +1 more source

Synergistic Roles of FAHD‐1 and PYC‐1 in Mitochondrial Function, Behavior, and Longevity in C. elegans

Advanced Biology, EarlyView.
FAHD‐1 and PYC‐1 catalyze opposing mitochondrial reactions that regulate oxaloacetate homeostasis in Caenorhabditis elegans. Using single and double knockouts, this study reveals that both enzymes shape locomotion, reproduction, respiration, and lifespan.
Riccardo Giaquinta, Andreas Andric, Matthias Scheppach, Alexander K. H. Weiss   +3 more
wiley   +1 more source