Results 141 to 150 of about 12,239 (244)

Phenotypic heterogeneity of MELAS

Molecular Genetics and Metabolism Reports, 2017
Josef Finsterer, Sinda Zarrouk-Mahjoub
openaire   +3 more sources

Walsh & Hoyt: MELAS Syndrome [PDF]

, 2005
The main diagnostic features are myopathy, encephalopathy, lactic acidosis, and stroke-like episodes at a young age (MELAS) (308). Affected patients may have episodic vomiting, seizures, and multiple neurologic deficits including hemiparesis ...
Michael X. Repka, MD
core  

Clinical Spectrum, Heteroplasmy-Phenotype Correlation, and Prognosis of the MT-ND3 m.10191 T > C Mutation. [PDF]

CNS Neurosci Ther
He Z, Jiang H, Li T, Liu Y, Zou Y, Xu C, Liu Z, Shen D, Duan R, Song M, Zhang Y, Zhang Z, Sun M, Shen R, Xue H, Fang F.   +15 more
europepmc   +1 more source

Phenotypic heterogeneity within twins with MELAS with epilepsy: Case report. [PDF]

Medicine (Baltimore)
Wu H, Wang Y, Kong Q.
europepmc   +1 more source

MELAS [PDF]

, 2020
openaire   +1 more source

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases. [PDF]

Clin Transl Sci
Stern S, Crisamore K, Patton J, Schuck R, Pacanowski M.   +4 more
europepmc   +1 more source

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements. [PDF]

Eur J Neurol
Mancuso M, Bellusci M, Carelli V, de Coo I, Diodato D, Distelmaier F, Hikmat O, Hirano M, Horvath R, Karaa A, Klopstock T, Koenig MK, Kornblum C, La Morgia C, Lopriore P, Martikainen MH, McFarland R, Musumeci O, Pitceathly RDS, Primiano G, Rahman S, Scaglia F, Schaefer A, Schiff M, Semmler L, Lamperti C, Servidei S.   +26 more
europepmc   +1 more source

Issue Information

Small Science, Volume 6, Issue 8, August 2026.
wiley   +1 more source

From confusion to diagnosis: a rare case of melas syndrome in a patient with familial consanguinity, recurrent stroke-like episodes, and concurrent FSGS. [PDF]

BMC Neurol
Mohsen M, Juma S, Saleh D, Saleh T, Amayra A, Atrash J.   +5 more
europepmc   +1 more source

Cerebral vasodilation and lesion patterns in stroke-like episodes of MELAS: a quantitative angiographic investigation. [PDF]

Quant Imaging Med Surg
Song K, Yoon MK, Yang W, Chang JY, Kang DW, Kwon SU, Kim BJ.   +6 more
europepmc   +1 more source