Results 121 to 130 of about 3,285 (240)

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene [PDF]

Michela Di Nottia, Teresa Rizza, Enrico Baruffini, Claudia Nesti, Alessandra Torraco, Daria Diodato, Diego Martinelli, Flavio Dal Canto, Alexandru Ionut Gilea, Martina Zoccola, Barbara Siri, Carlo Dionisi‐Vici, Enrico Bertini, Filippo M. Santorelli, P Goffrini, Rosalba Carrozzo   +15 more
openalex   +1 more source

Exercise protocol and muscular fiber type composition dependent phosphocreatine recovery in health and disease; a preliminary study [PDF]

, 2010
Jauslin, M
core   +1 more source

How can we treat mitochondrial encephalomyopathies? Approaches to therapy. [PDF]

Neurotherapeutics, 2008
Horvath R, Gorman G, Chinnery PF.
europepmc   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy: Diagnostic features of a patient

, 2000
İrfan Soykan, Hülya Çetınkaya, Ersin Tan, Fatih Aydın, Ali Özden   +4 more
openalex   +1 more source

Emergency surgery in chronic intestinal pseudo-obstruction due to mitochondrial neurogastrointestinal encephalomyopathy: case reports [PDF]

, 2010
Pablo Granero Castro, Sebastián Fernández Arias, María Moreno Gijón, Paloma Álvarez Martínez, José Granero Trancón, Jose Antonio Álvarez Pérez, Eduardo Lamamie Clairac, Juan José González González   +7 more
core   +1 more source

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial [PDF]

, 2019
Bridget E. Bax, Michelle Levene, Murray Bain, Lynette D. Fairbanks, Massimiliano Filosto, Sema Kalkan Uçar, Thomas Klopstock, Cornelia Kornblum, Hanna Mandel, Shamima Rahman, Agathe Roubertie, Mauro Scarpelli, P. Sedgwick, Moshe Baru, M. Sellos-Moura, J.D.E. Price, Patrick T. Horn, Niranjanan Nirmalananthan   +17 more
openalex   +1 more source

SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

, 2021
Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab Al Masseri, Rozeena Huma, Laila AlQuait, Tarfa Alshidi, Eman Alobeid, Albandary AlBakheet, Basma M. Alahideb, Lujane Y. Al-Ahaidib, Alya Qari, Robert W. Taylor, Dilek Çolak, Moeenaldeen AlSayed, Namik Kaya   +17 more
openalex   +1 more source

Molecular and Cellular Mechanisms of Epilepsy 2.0. [PDF]

Int J Mol Sci, 2023
Zaitsev AV.
europepmc   +1 more source

An Adult with Inherited Mitochondrial Encephalomyopathy  [PDF]

, 1997
Kristina Kloss Ciccotelli, Eline T. Luning Prak, Stanley Muravchick   +2 more
openalex   +1 more source

Corrigendum to ‘Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with progressive sensorineural hearing loss: A case report [Radiology Case Reports 16 (2021) 1865-1869]

, 2021
Trang Mai Tong, Chien Cong Phan, Dung Tri Bach, Thu Hoang Thi Nguyen, Truc Thanh Tran Nguyen, Khang Chung Ngoc Vo   +5 more
openalex   +1 more source