Results 91 to 100 of about 1,586 (183)

Cholesterol in Mitochondrial Diseases-Friend or Foe? [PDF]

Int J Mol Sci
Taylor M, Halicki M, Chazot P.
europepmc   +1 more source

The Clinical Burden of Inherited Neurometabolic Disorders in Adults-A Territorial Care Approach. [PDF]

J Clin Med
Orsucci D, Caldarazzo Ienco E, Giuntini M, Vista M.   +3 more
europepmc   +1 more source

A rare <i>de novo</i> mutation, m.1630A>G, in the mitochondrial tRNAVal (<i>MT-TV</i>) gene in a child with epilepsy: case report and review of the literature. [PDF]

Transl Pediatr
Wang Q, Chen Y, Li J, Li B.
europepmc   +1 more source

279. Efficient and Safe Lentiviral Vector-Mediated Hematopoietic Stem Cell Gene Therapy in MNGIE Mice [PDF]

, 2015
Rana Yadak, Javier Torres Torronteras, Raquel C. Pérez, Elly Bogaerts, George de Ruijter, Jordi Barquinero, Ramón Martí, Bert J. Smeets, Marshall W. Huston, Niek P. van Til, Gerard Wagemaker, I.F.M. de Coo   +11 more
openalex   +1 more source

Role of mitochondria in neuronal function and survival in the enteric and central nervous systems. [PDF]

Cell Mol Life Sci
Kural I, M Mombeek LM, Wilson DM.
europepmc   +1 more source

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function [PDF]

, 2017
Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Icíar Sánchez‐Albisua, Lüdger Schöls, Henk J. Blom, Matthis Synofzik   +8 more
openalex   +1 more source

Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency. [PDF]

Am J Med Genet A
Kilich G, Jadhav T, Maurer K, Breen C, Jammihal T, Schindewolf E, Ganetzky RD, Vanderver A, Skraban C, Rajagopalan R, Sullivan KE.   +10 more
europepmc   +1 more source

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation [PDF]

, 2004
Kinga Szigeti, L-J C Wong, C-L Perng, G M Saifi, K Eldin, A M Adesina, D L Cass, M Hirano, J R Lupski, F Scaglia   +9 more
openalex   +1 more source

Mitochondrial genomic alterations in cholangiocarcinoma cell lines. [PDF]

PLoS One
Faipan A, Sitthirak S, Wangwiwatsin A, Namwat N, Klanrit P, Titapun A, Jareanrat A, Thanasukarn V, Khuntikeo N, Boulter L, Dokduang H, Loilome W.   +11 more
europepmc   +1 more source

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE)

, 2014
P. Ayatollahi, A. Tarazi, S. Nafissi
openalex   +1 more source