Results 101 to 110 of about 48,917 (272)
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
Clinical Genetics, Volume 109, Issue 2, Page 356-362, February 2026.Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad +11 more
wiley +1 more source
Neurobrucellosis Presenting As Leukoencephalopathy and Deafness
Türk Nöroloji Dergisi, 2011 Neurological involvement of the central nervous system in brucellosis is uncommon. Sensorineural hearing loss is a rare complication of neurobrucellosis, which has not attracted enough attention among known manifestations.
Feray Güleç +2 more
doaj +2 more sources
Annals of Indian Academy of Neurology, 2019 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome, caused by mutations in the thymidine phosphorylase gene, manifests as a multisystemic disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis and ...
Hongyan Huang +3 more
doaj +1 more source
Immunological biomarkers identifying natalizumab-treated multiple sclerosis patients at risk of progressive multifocal leukoencephalopathy [PDF]
, 2014 Natalizumab-induced progressive multifocal leukoencephalopathy (PML) appears to be unleashed by complex interactions between viral and immunological host factors leading the latent form of JC virus to become pathogenic.
A.SOTTINI +8 more
core +1 more source
An Unusual Motor OFF in Parkinson's Disease
Movement Disorders Clinical Practice, EarlyView.
Shreyashi Jha, Mandar S. Jog
wiley +1 more source
ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome
Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 287-294, February 2026.ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve +26 more
wiley +1 more source
Safety monitoring of the newer disease modifying therapies in multiple sclerosis patients in Mater Dei hospital [PDF]
, 2016 Patients with highly active Multiple Sclerosis can be started on the newer pharmaceutical agents, Dimethyl Fumarate or Fingolimod. Safety monitoring recommended includes regular blood analysis and also ophthalmic tests and MRI scans in the case of ...
Aquilina, Josanne, Zammit, Daniela
core
International Journal of Laboratory Hematology, Volume 48, Issue 1, Page 12-25, February 2026.ABSTRACT Monocytes are key components of the Mononuclear Phagocyte System, crucial in immune defense, inflammation, and tissue repair. Accurate identification and classification of monocyte lineage cells are essential for diagnosing both reactive and clonal hematologic disorders.
Gina Zini +10 more
wiley +1 more source
DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy [PDF]
, 2014 Fed Univ São Paulo UNIFESP, Dept Neurol & Neurosurg, Div Gen Neurol, BR-04023900 São Paulo, BrazilFed Univ São Paulo UNIFESP, Dept Neurol & Neurosurg, Div Gen Neurol, BR-04023900 São Paulo, BrazilWeb of ...
Pinto, Wladimir Bocca Vieira de Rezende +1 more
core +1 more source