Results 81 to 90 of about 1,586 (183)

Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice [PDF]

, 2018
Rana Yadak, Max V. Boot, Niek P. van Til, Dominique Cazals‐Hatem, Armin Finkenstedt, Elly Bogaerts, I.F.M. de Coo, Marianna Bugiani   +7 more
openalex   +1 more source

Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease

American Journal of Medical Genetics. Part A, 2023
J. Finsterer
semanticscholar   +1 more source

Thymidine Phosphorylase Gene Mutation is not a Primary Cause of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

, 2006
Yukie KUMAGAI, Yoshihiro Sugiura, Hidekazu Sugeno, Yuji Takebayashi, Seiichi Takenoshita, Teiji Yamamoto   +5 more
openalex   +2 more sources

Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B. [PDF]

J Med Case Rep, 2023
Finsterer J.
europepmc   +1 more source

P0954 CACHEXIA AS THE ONLY PRESENTING SYMPTOM OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) WITHOUT GASTROINTESTINAL INVOLVEMENT [PDF]

, 2004
B. Weiß, Bruria Ben‐Zeev, Michio Hirano, N Brand, Yoram Bujanover, A. Yaruslavski, Joseph Sack, Yair Anikster   +7 more
openalex   +1 more source

Non-invasive biomarkers for diagnosis and monitoring of primary mitochondrial diseases. [PDF]

J Neurol
Arena IG, Saravanabavan S, Horvath R, van den Ameele J.   +3 more
europepmc   +1 more source

DCTPP1 orchestrates dCTP pool dynamics and mtDNA stability in quiescent cells. [PDF]

Cell Death Dis
Fernández B, Pérez-Moreno G, Martínez-Arribas B, Vidal AE, Ruiz-Pérez LM, González-Pacanowska D.   +5 more
europepmc   +1 more source

A two part, multi-centre, multiple dose study of Erythrocyte Encapsulated Thymidine Phosphorylase (EETP) in patients with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) [PDF]

, 2017
Niranjanan Nirmalananthan, Michelle Levene, Massimiliano Filosto, Thomas Klopstock, Cornelia Kornblum, Hanna Mandel, S. Rahman, Agathe Roubertie, Mauro Scarpelli, Bridget E. Bax   +9 more
openalex   +1 more source

Untargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy. [PDF]

Int J Mol Sci
Bax BE, Uçar SK.
europepmc   +1 more source

MNGIE Patients Undergoing Liver and Intestinal Transplantation Require Close Postsurgery Monitoring of Neurological Involvement

International Journal of Advanced Multidisciplinary Research and Studies
Josef Finsterer
semanticscholar   +1 more source