نتائج البحث

Multisystem clinicopathologic and genetic analysis of MELAS.

• Authors : Xu, Shuai¹ (AUTHOR) ; Jiang, Jialiu¹ (AUTHOR) ; Chang, Leilei¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/24/2024, Vol. 19 Issue 1, p1-15. 15p.

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Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study.

• Authors : Stoevesandt, Dietrich¹ (AUTHOR) ; Schlitt, Axel^2,3 (AUTHOR); Röntgen, Philipp¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2/10/2025, Vol. 20 Issue 1, p1-7. 7p.

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Comprehensive predictors of drug-resistant epilepsy in MELAS: clinical, EEG, imaging, and biochemical factors.

• Authors : Gao R; Department of Neurology, Tianjin Huanhu Hospital, Nankai University, Tianjin, China.; Gu L

Subjects: MELAS Syndrome*/MELAS Syndrome*/MELAS Syndrome*/complications ; MELAS Syndrome*/MELAS Syndrome*/MELAS Syndrome*/physiopathology ; MELAS Syndrome*/MELAS Syndrome*/MELAS Syndrome*/diagnostic imaging

• Source: BMC neurology [BMC Neurol] 2025 Feb 14; Vol. 25 (1), pp. 64. Date of Electronic Publication: 2025 Feb 14.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium:

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Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.

• Authors : Scarcella, Simone^1,2 (AUTHOR); Dell'Arti, Laura³ (AUTHOR); Gagliardi, Delia^1,2 (AUTHOR)

• Source: BMC Neurology. 10/13/2023, Vol. 23 Issue 1, p1-7. 7p.

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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.

• Authors : Alenezi AF; Ministry of Health, Kuwait City, Kuwait. .; College of Medicine and Medical Sciences, Arabian Gulf University, Manama, Kingdom of Bahrain. .

Subjects: Acidosis, Lactic*/Acidosis, Lactic*/Acidosis, Lactic*/diagnosis ; MELAS Syndrome*/MELAS Syndrome*/MELAS Syndrome*/complications ; MELAS Syndrome*/MELAS Syndrome*/MELAS Syndrome*/diagnosis

• Source: Journal of medical case reports [J Med Case Rep] 2022 Oct 10; Vol. 16 (1), pp. 361. Date of Electronic Publication: 2022 Oct 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium:

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Modeling of mitochondrial bioenergetics and autophagy impairment in MELAS-mutant iPSC-derived retinal pigment epithelial cells.

• Authors : Bhattacharya S; Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, 2311 Pierce Avenue, Nashville, TN, 37232, USA.; Yin J

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; MELAS Syndrome*/MELAS Syndrome*/MELAS Syndrome*/genetics ; MELAS Syndrome*/MELAS Syndrome*/MELAS Syndrome*/metabolism

• Source: Stem cell research & therapy [Stem Cell Res Ther] 2022 Jun 17; Vol. 13 (1), pp. 260. Date of Electronic Publication: 2022 Jun 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium:

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Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report.

• Authors : Yokota, Yuki¹ (AUTHOR); Hara, Makoto¹ (AUTHOR) ; Akimoto, Takayoshi¹ (AUTHOR)

• Source: BMC Neurology. 6/17/2020, Vol. 20 Issue 1, p1-9. 9p. 3 Color Photographs, 1 Diagram, 3 Charts, 1 Graph.

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Neuroimaging pattern and pathophysiology of cerebellar stroke-like lesions in MELAS with m.3243A>G mutation: a case report.

• Authors : Oyama M; Department of Neurology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo, 160-8582, Japan.; Iizuka T

Subjects: Cerebellum*/Cerebellum*/Cerebellum*/diagnostic imaging ; Cerebellum*/Cerebellum*/Cerebellum*/pathology ; Cerebellum*/Cerebellum*/Cerebellum*/physiopathology

• Source: BMC neurology [BMC Neurol] 2020 May 01; Vol. 20 (1), pp. 167. Date of Electronic Publication: 2020 May 01.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium:

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

• Authors : Sinnecker T; Neurologic Clinic and Policlinic, Departments of Medicine, Clinical Research and Biomedical Engineering, University Hospital and University of Basel, Petersgraben 4, CH-4031, Basel, Switzerland.; Medical Imaging Analysis Center AG, Basel, Switzerland.

Subjects: MELAS Syndrome/MELAS Syndrome/MELAS Syndrome/*diagnosis; Age of Onset ; Female

• Source: BMC neurology [BMC Neurol] 2019 May 08; Vol. 19 (1), pp. 91. Date of Electronic Publication: 2019 May 08.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium:

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Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE.

• Authors : Du, Jixiang^1,2,3 (AUTHOR); Liu, Fuchen² (AUTHOR); Liu, Xihan⁴ (AUTHOR)

• Source: Journal of Translational Medicine. 5/13/2024, Vol. 22 Issue 1, p1-19. 19p.

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