Results 91 to 100 of about 8,951 (213)

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes – a case report

BMC Neurology, 2019
Background Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial cytopathy caused by mutations in mitochondrial DNA. Clinical manifestation is typically before the age of 40. Case presentation We present the
Tim Sinnecker, Michaela Andelova, Michael Mayr, Stephan Rüegg, Michael Sinnreich, Juergen Hench, Stephan Frank, André Schaller, Christoph Stippich, Jens Wuerfel, Leo H. Bonati   +10 more
doaj   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy caused by thymidine phosphorylase enzyme deficiency: From pathogenesis to emerging therapeutic options [PDF]

, 2017
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive metabolic disorder caused by thymidine phosphorylase (TP) enzyme deficiency.
Coo, I.F.M. (René) de, Smitt, P.S., Til, N.P. (Niek) van, van Gisbergen, M.W., Yadak, R.M.A. (Rana)   +4 more
core   +3 more sources

Progressive ataxia with oculo-palatal tremor and optic atrophy [PDF]

, 2013
The final publication is available at Springer via doi: 10.​1007/​s00415-013-7136-
A. M. Bronstein, C Morgia, C. Everett, E Storey, G Deuschl, I. Peppas, K. Schmierer, KK Johansen, KL Howard, LI Lopez, M Samuel, M. M. Papachatzaki, N. Ali, P Amati-Bonneau, Q. Arshad, RK Naviaux, S Stricker, S. Cader   +17 more
core   +1 more source

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement [PDF]

, 2019
Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease.
Bonnen, Penelope E, Carbo, Miriam, Cerbelli, Bruna, D'Amati, Giulia, Della Monica, Paola Lilla, Falkous, Gavin, Giordano, Carla, Glasgow, Ruth I C, Hardy, Steven A, He, Langping, Morea, Veronica, Perli, Elena, Pignataro, Maria Gemma, Pisano, Annalinda, Re, Federica, Taylor, Robert W, Zacara, Elisabetta   +16 more
core   +2 more sources

Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21

Balkan Journal of Medical Genetics
Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy.
Paripović A, Maver A, Stajić N, Putnik J, Ostojić S, Alimpić B, Ilić N, Sarajlija A   +7 more
doaj   +1 more source

Altered stimulus frequency and intensity dependence of the somatosensory evoked potential in rats after acute application of two mitochondrial toxins [PDF]

, 2009
Mitochondrial toxins are a special group of toxicants with nervous system ef TRACT - fects. The resulting nervous system damage could be detected and followed-up by means of functional biomarkers but these still have to be worked out.
Bankó, S., Papp, András, Takács, Sz.
core   +1 more source

Síndrome de MELAS: TC y RM como herramienta diagnóstica no invasiva MELAS syndrome: CT and MRI as a noninvasive diagnostic tool

Revista Argentina de Radiología, 2010
Se presenta el caso de un paciente masculino, de 16 años, con hipoacusia bilateral, miopatías y alteración neurológica focal. Desde los 9 años, presenta deficiencia en el desarrollo muscular con episodios repetidos de intolerancia al ejercicio, así como ...
Laura García, Romina Guglielmo, Lisandro Illa   +2 more
doaj  

A neurodegenerative perspective on mitochondrial optic neuropathies [PDF]

, 2016
Mitochondrial optic neuropathies constitute an important cause of chronic visual morbidity and registrable blindness in both the paediatric and adult population. It is a genetically heterogeneous group of disorders caused by both mitochondrial DNA (mtDNA)
Barboni, Piero, Burté, Florence, Carelli, Valerio, La Morgia, Chiara, Votruba, Marcela, Yu-Wai-Man, Patrick   +5 more
core   +3 more sources

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes in an older adult mimicking cerebral infarction: a Chinese case report

Clinical Interventions in Aging, 2018
Gao-Li Fang,1 Yang Zheng,2 Yin-Xi Zhang2 1Department of Neurology, Hangzhou Red Cross Hospital, Hangzhou, China; 2Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China Abstract: Few cases of ...
Fang GL, Zheng Y, Zhang YX
doaj  

Stroke in MELAS is a Vasogenic Edema and not Ischemic

Basic and Clinical Neuroscience, 2020
We read with interest the article by Almasi et al. on a 48 years old female patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-like episodes (MELAS), diagnosed based on the clinical presentation, blood test results, and imaging and
Josef Finsterer, Sinda Zarrouk-Mahjoub
doaj