Results 161 to 170 of about 533,276 (294)

Cardiac magnetic resonance findings in mitochondrial disease: a guide for clinicians. [PDF]

Eur Heart J Imaging Methods Pract
Gray R, Kantartzı V, Lopes LR, Savvatis K, Westwood M.   +4 more
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

From stroke workup to mitochondrial disease: A case report of MELAS. [PDF]

Radiol Case Rep
Sevencan Y, Rode S, Park A, Levin I, Masri D, Derman A.   +5 more
europepmc   +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

Therapies for Mitochondrial Disease: Past, Present, and Future. [PDF]

J Inherit Metab Dis
Ball M, van Bergen NJ, Compton AG, Thorburn DR, Rahman S, Christodoulou J.   +5 more
europepmc   +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

A step from the physiology to the physiome

Integrative Medicine Research, 2016
Akinori Noma, Jae Boum Youm
doaj   +1 more source

Widespread and progressive brain atrophy is a common feature in patients with mitochondrial disease. [PDF]

J Neurol
Mickelsson N, Hirvonen J, Martikainen MH.   +2 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

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease. [PDF]

Clin Genet
Fassad MR, Valenzuela S, Oláhová M, Collier JJ, Knowles CVY, Mavraki E, Elbracht M, Güzel N, Herberhold T, Kurth I, Maier A, Mattern L, Saunders C, McCullagh H, Õunap K, Wortmann SB, Reis A, Zhang L, Gustafsson CM, McFarland R, Taylor RW.   +20 more
europepmc   +1 more source