Results 21 to 30 of about 376,481 (188)

Stem cell‐derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy [PDF]

CNS Neuroscience and Therapeutics, 2021
Kaiming Liu, Zhijian Zhou
exaly   +2 more sources

Mitochondrial encephalomyopathies [PDF]

Journal of Neuropathology & Experimental Neurology, 2003
Mitochondrial encephalomyopathies are diseases caused by defective oxidative phosphorylation (OXPHOS), and affect the nervous system and/or skeletal muscle. They have emerged as a major entity among the neurometabolic diseases of childhood with an incidence of 1 in 11,000 children, and also have a high prevalence in adults.
Anders, Oldfors, Már, Tulinius
openaire   +3 more sources

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report

Journal of Medical Case Reports, 2022
Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome is a rare mitochondrial genetic disorder that can present with a variety of clinical manifestations, including stroke, hearing loss, seizures, and lactic ...
Ahmad F. Alenezi, Mariam A. Almelahi, Feten Fekih-Romdhana, Haitham A. Jahrami   +3 more
doaj   +1 more source

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]

, 2012
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Padovani Alessandro, SCARPELLI, Mauro, Anna Russignan, Padovani, A, PADOVANI, Alessandro, Bereczki, C, Paola Tonin, Bax Bridget E., Buono, R, Filosto Massimiliano, ZAPPINI, Francesca, Filosto M., Russignan, A, Bridget E. Bax, Alessandro Padovani, Zappini, F, Filosto, M, Bereczki Csaba, Bax, BE, Tonin, P, Massimiliano Filosto, Bax B. E., Padovani A., Zombor, M, Tonin Paola, Buono, Romina, Bereczki C., Zombor Melinda, Zombor M., Mauro Scarpelli, Romina Buono, Zappini Francesca, Scarpelli Mauro, Csaba Bereczki, Russignan Anna, Francesca Zappini, RUSSIGNAN, Anna, Buono Romina, TONIN, PAOLA, Melinda Zombor, Scarpelli, M   +40 more
core   +1 more source

Pathology of Mitochondrial Encephalomyopathies [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2005
ABSTRACT:Muscle biopsy provides the best tissue to confirm a mitochondrial cytopathy. Histochemical features often correlate with specific syndromes and facilitate the selection of biochemical and genetic studies. Ragged-red fibres nearly always indicate a combination defect of respiratory complexes I and IV.
Harvey B, Sarnat, José, Marín-García
openaire   +2 more sources

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. [PDF]

, 2013
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder caused by a deficiency of thymidine phosphorylase (TP, EC2.4.2.4) due to mutations in the nuclear gene TYMP.
Bax, BE, Tonin, P, Bax B. E., Moran N., SCARPELLI, Mauro, Tonin P., Scarpelli M., Filosto M., Bain, MD, TONIN, PAOLA, Scarpelli, M, Filosto, M, Moran, N, Bain M. D.   +13 more
core   +1 more source

Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy

BioMedica, 2020
Background and Objective:  Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function.
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu   +5 more
doaj   +1 more source

Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations [PDF]

, 2010
Mutations of mitochondrial DNA are associated with a wide spectrum of disorders, primarily affecting the central nervous system and muscle function. The specific consequences of mitochondrial DNA mutations for neuronal pathophysiology are not understood.
Turnbull, Douglass M., Turnbull, Doug, Kirby, Denise M., Abramov, Andrey Y., Duchen, Michael, Abramov, Andrey, Smulders-Srinivasan, Tora, Smulders-Srinivasan, Tora K.; id_orcid, Duchen, Michael R., Acin-Perez, Rebecca, Enriquez, José Antonio, Kirby, Denise, Smulders-Srinivasan, Tora K., Lightowlers, Robert, Acin-Perez, Rebeca, Enriquez, Jose, Lightowlers, Robert N.   +16 more
core   +1 more source

Mitochondrial DNA mutations affect calcium handling in differentiated neurons. [PDF]

, 2010
Contains fulltext : 88975.pdf (Publisher’s version ) (Closed access)Mutations in the mitochondrial genome are associated with a wide range of neurological symptoms, but many aspects of the basic neuronal pathology are not understood ...
Enriquez, J.A., Turnbull, D.M., Smulders-Srinivasan, Tora, Lightowlers, R.N., Trevelyan, A.J., Nooteboom, Marco, Nooteboom, M., Smulders-Srinivasan, T.K., Smulders-Srinivasan, Tora K., Acin-Perez, Rebeca, Whittington, Miles A., Lightowlers, Robert N., Whittington, M.A., Turnbull, Doug, Kirby, Denise M., Trevelyan, Andrew, Smulders-Srinivasan, Tora K.; id_orcid, Acin-Perez, Rebecca, Trevelyan, Andrew J., Turnbull, Doug M., Acin-Perez, R., Enriquez, José Antonio, Kirby, Denise, Lightowlers, Robert, Kirby, D.M., Enriquez, Jose, Whittington, Miles   +26 more
core   +2 more sources

Dystonia and Partial Cytochrome B Deficiency

Pediatric Neurology Briefs, 1991
An 18 year old female with idiopathic torsion dystonia associated with mitochondrial encephalomyopathy is reported from the Departments of Neurology, Pediatrics and Biochemistry, Wayne State University School of Medicine, Detroit, Michigan.
J Gordon Millichap
doaj   +1 more source