Results 11 to 20 of about 48,917 (272)

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
We report a novel IBA57 variant in a pediatric case, with pathogenicity confirmed through familial segregation analysis, Sanger sequencing, 3D protein modeling, and evolutionary conservation studies. Mitochondrial complex activity assays demonstrated functional impairment. A comprehensive review of literature further elucidates the genotypic‐phenotypic
Xu J, Zhang X, Hua Y, Yang L, Shi D, Qiu S.   +5 more
europepmc   +2 more sources

Post Blood Transfusion Reversible Cerebral Vasoconstriction with Posterior Leukoencephalopathy Syndrome

Türk Nöroloji Dergisi, 2020
Reversible Cerebral Vasoconstriction syndrome is an uncommon and often under-diagnosed neurologic disorder. It is characterized by thunderclap headache with or without focal neurologic deficits and seizures.
Kiran Kumar Ramineni, Ravi Kanth Jakkani
doaj   +1 more source

Progressive multifocal leukoencephalopathy in a young adult with DOCK8 deficiency: a case of JC virus reactivation in primary immunodeficiency. [PDF]

J Neurovirol
Naydovich L, Berger JR, Milutinovic PS.
europepmc   +3 more sources

Studying the evolution and the magnetic resonance findings of reversible posterior leukoencephalopathy in children Estudo da localização e evolução da leucoencefalopatia posterior reversível em crianças usando ressonância magnética

Arquivos de Neuro-Psiquiatria, 2006
PURPOSE: To describe the evolution and the magnetic resonance imaging (MRI) findings of the reversible posterior leukoencephalopathy (RLPS) in children.
José Roberto Ferraz-Filho, José Alves Rocha-Filho, Tatiana Fantin Bichuette, Regina Celia Ajeje P. de Albuquerque, Rafael Angelo Sanchez, Antonio Soares Souza   +5 more
doaj   +1 more source

A programme for risk assessment and minimisation of progressive multifocal leukoencephalopathy developed for vedolizumab clinical trials [PDF]

, 2018
Introduction Over the past decade, the potential for drug-associated progressive multifocal leukoencephalopathy (PML) has become an increasingly important consideration in certain drug development programmes, particularly those of immunomodulatory ...
Berger, Joseph R, Clifford, David B, Fox, Irving, Lev, Michael H, Major, Eugene, McAuliffe, Megan, Milch, Catherine, Parikh, Asit, Patti, Mark, Provenzale, James M, Sankoh, Serap, Shick, Jesse, Stephens, Kristin   +12 more
core   +3 more sources

Leucoencefalopatia megalencefálica com substância branca evanescente e cistos subcorticais Megalencephalic leukoencephalopathy with vanishing white matter and cystic formation

Arquivos de Neuro-Psiquiatria, 2004
Apresentamos três casos de leucoencefalopatia megalencefálica com substancia branca evanescente e cistos subcorticais, diagnosticados através da ressonância nuclear magnética.Os casos estudados apresentam quadro clinico e radiológico de acordo com os ...
Hélio Araújo Oliveira, Marbene Guedes Machado, Alan Chester Feitosa de Jesus, Emanoella Faro de Oliveira, Arthur Maynart Pereira Oliveira   +4 more
doaj   +1 more source

EFFICIENT PROPAGATION OF ARCHETYPE JC POLYOMAVIRUS IN COS-7 CELLS: EVALUATION OF REARRANGEMENTS WITHIN NCCR STRUCTURAL ORGANIZATION DURING TRANSFECTION. [PDF]

, 2017
John Cunningham virus (JCPyV) is an ubiqui-tous human pathogen that causes disease in immunocom-promised patients. The JCPyV genome is composed of an early region and a late region, which are physically sepa-rated by the ...
Anzivino, Elena, Bellizzi, Anna, Palamara, ANNA TERESA, Pietropaolo, Valeria Antonietta, Prezioso, Carla, Rodio, DONATELLA MARIA, Scribano, D, Trancassini, Maria   +7 more
core   +1 more source

Magnetic Resonance Imaging and Clinical Features of Chlorfenapyr-Induced Toxic Leukoencephalopathy: A Case Report

대한영상의학회지, 2020
Chlorfenapyr is widely used as an insecticide, despite it being fatal to humans. However, chlorfenapyr- induced central nervous system toxicity has rarely been reported.
Jong Hyuk Kim, Noh Hyuck Park, Ji Yeon Park, Seon-Jeong Kim   +3 more
doaj   +1 more source

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

Molecular Genetics & Genomic Medicine, 2021
Background Biallelic pathogenic variants in HTRA1 cause CARASIL. More recently, monoallelic variants have been associated with the autosomal dominant disorder CADASIL2 but not all carriers develop disease manifestations. We describe the clinicoradiologic
Karthik Muthusamy, Alejandro Ferrer, Eric W. Klee, Klaas J. Wierenga, Ralitza H. Gavrilova   +4 more
doaj   +1 more source

Case report: Bilateral globus pallidus lesions and delayed progressive leukoencephalopathy in COVID-19: Effects of hypoxia alone or combination of hypoxia and inflammation?

Frontiers in Neurology, 2023
BackgroundThe globus pallidus is a highly mitochondria-rich metabolic structure that is particularly sensitive to metabolic disturbances and hypoxia. Symmetric lesions of globus pallidus and delayed diffuse leukoencephalopathy were documented in toxic ...
Ahmad A. Ballout, Michael Kolesnik, Yuna Choi, Marc S. Ayoub, Asaff Harel, Souhel Najjar   +5 more
doaj   +1 more source